¥ Med Genet 1996;33:1057-1060 VOLUME 33 * AUTHOR INDEX Key: (E) = Editorial: (RA) = Review article: (H) = Hypothesis: (L) = Letter Abbott M, 947 Billes C, 618 Chitty LS, 707 Deville J-L, 444 Abbs SJ, 550 Billingsley G, 823 Chiu E, 1051 (L) Devriendt K, 224, 349 (L), 469 Adam S, 856 Binedell J, 173 (L), 912 Choo K-B, 371 Differ A-M, 128 Adés LC, 665 Bingham EA, 972 Chorney K, 842 Digilio MC, 416, 1052 (L) Agid Y, 661 Bink-Boelkens MThE, 47 Chorney M, 842 Distante S, 157 Ahmad NN, 678 Bird AC, 518 Chow CW, 965, 968 Dixon J, 107 Aida N, 877 Bittner R, 1019 Christian SL, 1011 Dixon MJ, 603 Akesson HO, 764 Blackwell JM, 672 Christianson AL, 89 (RA) Dixon P, 678 Al-Awadi SA, 165 Blaichman S, 42 Chrzanowska KH, 153 Dobbie Z, 274 Al-Gazali LI, 203 Blanc B, 731 Chuang L-M, 521 Dobin A, 753 Al-Maghtheh M, 262 (L) Blanco A, 221 Chudley AE, 952 Dodd C, 120 Al Saleh Q, 165 Blanton SH, 559 Clarke A, 693 Dokal I, 993 Al-Sawan R, 165 Blennow E, 399 Claustres M, 802 Dolan OM, 972 Al Talabani J, 203 Bloch M, 856 Clayton D, 672 Dom R, 737 Alba LG, 227 Bobrow M, 265 (E), 313, 550 Clayton PE, 143 Donnai D, 59, 82, 928 Alberman E, 387 Bodmer WF, 268 Clerget-Darpoux F, 661 Dore J, 82 Albrechts JCM, 562 Bolduc N, 534 Clericuzio C, 947 Dow D, 1022 Alcolado JC, 253 Bonardot A-M, 358 Clermont O, 281 Drumheller T, 842 Alday P, 636 Bonaventure J, 450, 749 Cloostermans T, 737 Dubois B, 661 Ali M, 837 Bonneau D, 77 Cobo AM, 221 Dubowitz V, 93 Allan L, 187 Bonthron D, 248 Cockwell AE, 216, 515 Duits AA, 1007 Allen JC, 947 Boogaerts A, 737 Cole WG, 193, 965, 968 Durocher F, 814 Almeida R, 244 Boot-Handford RP, 450 Coll MJ, 458 Alos L, 409 Borrone C, 786 Colleaux L, 353 Economou-Petersen E, 1043 Amann T, 233 Bottani A, 132 Colley A, 107 Edwards A, 253 Amman R, 274 Bouman K, 47 Colley AF, 665 Edwards SJ, 603 Anderson CE, 793 Bout M, 935 Converse CA, 714 Eisinger F, 731 Ando M, 80 Boutin AM, 767 Cook JA, 480 Elder GH, 437 Andria G, 786 Bowen DJ, 143 Cooke A, 197 Eliason W, 132 Antifiolo G, 820 Béwing B, 618 Cookson WOCM, 689 Ellis JP, 744 Antonarakis SE, 636 Boyd E, 197 Corbett CH, 567 Elmslie FV, 435 Apak MY, 469 Bozon D, 358 Corfield VA, 567 Elorz J, 820 Apfelstedt-Sylla E, 233 Bras A, 244 Corsolini F, 251 Enders H, 103 Appleton RE, 419 Brassett C, 726, 981 Costa T, 823 Endo F, 645 Aradhya S, 1011 Braun-Quentin C, 618 Couturier A, 636 Endomoto T, 525 (L) Aranda EI, 227 Brayne C, 1002 Covanis T, 435 Engel W, 103 Asenbauer B, 422 Brice A, 661 Cox DW, 521 Engelen JJM, 562 Ashcroft GS, 928 Bridge JA, 376 Cox JN, 132 Ercolini P, 475 Atkey N, 66 Brink PA, 567 Cox TM, 837 Erickson L, 237 Atkinson SE, 672 Brock DJH, 1022 Cremers CWRJ, 753 Esakowitz L, 714 Au K-S, 559 Brook CGD, 798 Cremonesi L, 1052 (L Estivill X, 338, 409, 820 Aula P, 36 Brown BD, 574 Crolla JA, 66, 216, 515 Evans BAJ, 143 Aurran Y, 731 Bruni N, 358 Cross I, 66 Evans CD, 289 Avey C, 798 Buckler A, 559 Crossey PA, 328 Evans DGR, 120, 726, 981 Avramopoulos D, 1043 Bueno MRP, 439 (L) Cuevas J, 429 Evers-Kiebooms G, 737 Aymé S, 719 (L) Buerstedde J-M, 636 Cullen R, 56 Everse LA, 923 Azpitarte M, 221 Buiting K, 848 Curtis A, 435 Eydoux P, 42 Bulman DE, 823 Cust MP, 603 Babyn P, 823 Bundey S, 56 Faber JAJ, 923 Badenhorst JCW, 567 Burghes AHM, 324 Dahl R, 237 Faldella G, 786 Baiget M, 783 Biirglen L, 281 Dallapiccola B, 416, 884, 1052 (L) Farag TI, 165, 887 (L) Bakalinova D, 203 Burlet P, 281 D’Amato L, 636 Farah S, 165 Bakker E, 29, 97, 379, 935 Burn J, 498 Damsten M, 116 Farrar J, 630 (L) Bakker PLG, 47 Buscarini E, 441 Danesino C, 441 Farriaux JP, 996 Ballabio A, 823 Buscarini L, 441 Dapena J, 820 Feingold J, 767 Balling R, 655 Bushby K, 97 Dauwerse HG, 82 Felbor U, 233 Baraitser M, 707 Butler MG, 719 (L) Davies K, 1019 Felicetti L, 361 Barber JCK, 986 Davies KE, 93 Fellman J, 116 Barbierato L, 366 Cabanas R, 820 Davies SJ, 403, 758 Fellous M, 767 Barbosa ACC, 611 Cabrera VM, 413 Davison BCC, 594 Fensom AH, 295 Bardien S, 511 Cachat F, 636 Dawson AJ, 952 Ferguson MWJ, 928 Barisi¢ I, 882 Cacurri S, 361 de Jager T, 567 Fernandez JL, 84 (L) Barrett JH, 336 Calenda A, 661 de Jong G, 384 Ferrari M, 1052 (L) Barron L, 197 Cameron DJS, 157 de Jong JGN, 458 Ferrero GB, 823 Barron LH, 1022 Campion D, 661 de Jong PTVM, 869 Fidalgo P, 244 Bartolo C, 324 Canadian Collaborative Study of de la Chapelle A, 116 Fielding D, 197 Barton DE, 919 Predictive Testing, 856 de Nef JJEM, 261 (L) Filocamo M, 251 Bashir R, 97 Cantu ES, 906 de Ravel TJL, 802 Fitzpatrick DR, 863, 1022 Bastert G, 633 Carel J-C, 767 de Ritis G, 73, 475 Fitzpatrick J, 823 Bateman JF, 965, 968 Carles S, 802 de Silva D, 187, 493 Flanders TY, 889 Bech-Hansen T, 952 Carson L, 493 de Vries BBA, 1007 Floyd M, 84 (L) Becher H, 633 Casals T, 820 Dean JCS, 493 Fontes A, 341 Behrner D, 842 Cassiman J-J, 52, 469, 737, 899 Debauche C, 444 Fontes M, 353 Beighton P, 511 Castaldo G, 73, 475 Decker-Phillips M, 760 Forni GL, 993 Bell C, 714 Castellvi-Bel S, 338 Decorte R, 52 Forrest S, 1051 (L) Bellis M, 661 Castriota Scanderbeg A, 884 Decruyenaere M, 737 Forrest SM, 157 Belougne J, 353 Catto A, 336 Deidda G, 361 Forsius H, 116 Benitez J, 783 Cerqueira A, 173 (L) Del Piano G, 786 Foulkes WD, 534, 889 Benjamin N, 25 Cerretini RI, 227 Dellavecchia C, 441 Fowlie A, 603 Berardinelli A, 366 Chabal F, 731 Delozier-Blanchet C, 636 Foy CA, 336 Berg JN, 256 Chabas A, 458 DeLozier-Blanchet CD, 132 Frants R, 366 Bergen AAB, 869 Chan D, 968 Demyttenaere K, 737 Frants RR, 29 Berkovic SF, 308 Chang-Claude J, 633 den Dunnen JT, 935 Frebourg T, 661 Berkovitz GD, 465 Chao H-T, 371 Den Otter W, 923 Freimer NB, 544 Bernard LE, 432 Chapman CJ, 977 Dening T, 1002 Freire-Maia N, 230 Bernert G, 1019 Charbonnier F, 661 Dennis N, 426, 707 French Alzheimer’s Disease Berry AC, 806 (L) Chatkupt S, 655 Dennis NR, 986 Collaborative Study Group, 174 (L) Beverstock G, 848 Chauvergne J, 333 Der Kaloustian V, 77 French Alzheimer’s Disease Study Bhattacharya S, 262 (L) Chen C-P, 615 Der Kaloustian VM, 42 Group, 661 Bhattacharya SS, 518 Chen F, 716 Desgeorges M, 802 Froggatt NJ, 726, 981 Biesecker LG, 585, 947 Chen Y-T, 760 Desguerre I, 767 Fryer A, 173 (L), 419 Bignon Y-J, 731 Chevalier-Porst F, 358 D’Espallier L, 224 Fryns J-P, 52, 224, 349 (L), 562, Bill RM, 919 Chitayat D, 432 Devilee P, 379 737 1058 Author Index Funakoshi M, 645 Hatchwell E, 177 (H), 216, 261 Kere J, 507 Machelard-Roumagnac M, 731 Furniss D, 981 (L), 349 (L), 426, 515 Kerr B, 928 McIntosh A, 789 Furusho K, 621 Hawkins JR, 465, 800 Keulemans JLM, 458 MacKenzie H, 789 Furuyama J, 525 (L) Hayama T, 80 Kidd A, 493 MacKenzie JJ, 823 Hayashida M, 113 Kilpatrick M, 422 McKeown C, 313 Gagg J, 253 Hayden MR, 856 Kimberling WJ, 753 MacLeod P, 842 Gal A, 103 Healy JMS, 18 King M, 422 Maddock IR, 120 Galasko G, 1051 (L) Heeley AF, 837 Kingston HM, 69 Mage P, 333 Garcia A, 429 Heffron JJA, 18 Kishida T, 716 Maher ER, 120, 328, 726, Gardiner RM, 435, 833 Helali N, 600 Kishnani P, 760 981 Gardner RJM, 157 Henriksen KF, 161 Kitazos CA, 802 Maheshwar MM, 47 Garvin AM, 721 Hermans CJ, 47 Kitsos G, 1043 Maire I, 358 Gates LJ, 25 Hermans MMP, 458 Kiwaki K, 645 Majid A, 253 Gatti R, 251 Hernandez-Chico C, 590 Kleijer WJ, 607 Malcolm S, 744 Gaudin M, 636 Herrmann R, 721 Klineburgess A, 132 Manouvrier S, 996 Gaunt KL, 69 Herrtage ME, 284 Kliinder K, 103 Mansergh F, 630 (L) Gaunt L, 82 Hewitt JE, 366 Knight SW, 993 Mansie S, 1051 (L) Gedde-Dahl T, 137 Higuchi S, 113 Knowler WC, 336 Mao H-Q, 525 (L) George NDL, 919 Hill DF, 623 Knudtzon J, 700 Maraschio P, 366 Geraedts JPM, 562 Hiraishi Y, 1027 Knuutila S, 507 Marchessi J, 221 Gerber S, 77 Hodgson S, 128 Kobayashi R, 80 Marchuk DA, 256 Geurds MPA, 655 Hodgson SV, 540, 726 Koch DJ, 726 Marie SK, 97, 439 (L) Gewillig M, 349 (L) Hoff M, 47 Kohonen-Corish M, 240 Mariman ECM, 655 Giannotti A, 416, 1052 (L) Hogervorst FBL, 935 Kolehmainen J, 116 Marino B, 416, 1052 (L) Gibas L, 793 Hol FA, 655 Komaki S, 645 Marks R, 107 Gillessen-Kaesbach G, 848 Holmes J, 493 Kondo I, 80 Maroteaux P, 450, 749 Giltay JC, 261 (L) Hoodfar E, 212 Koten JW, 923 Marteau T, 313, 806 (L) Ginjaar IB, 935 Hook EB, 387 Kotze MJ, 384 Marti Mass6 JF, 221 Ginsburg O, 534 Hope P, 444 Kotzot D, 618 Martin C, 661 Giunta A, 1052 (L) Hopkin JM, 525 (L) Koulischer L, 444 Martin R, 511 Godfrey M, 760 Horan MA, 928 Kovacic A, 789 Martinez-Frias ML, 429 Godwin-Austen RB, 504 Horsthemke B, 848 Kroos MA, 458 Martinez M, 661 Goemans N, 469 Horwich A, 86 (L) Kubota T, 1011 Martorell L, 783 Goldman A, 802 Hoshide R, 645 Kuroki Y, 877 Mary J-L, 274 Goliath R, 511 Hou JW, 879 Kuwano A, 80 Marynen P, 52 Gonzales M, 996 Houlston R, 86 (L) Kwok C, 465, 800 Marzano MT, 1052 (L) Gonzalez A, 413 Howell RA, 308 Mason PJ, 993 Goodfellow PN, 465, 800 Hubert A-F, 444 Lacour M, 258 Massa C, 73 Goodship J, 498 Huddart RA, 86 (L) Lam TP, 193 Massoud AF, 798 Gosalvez J, 84 (L) Hughes HE, 148 Lambert D, 534 Masuno M, 877 Goudie D, 1022 Hughes I, 465 Lan C-C, 615 Mathew CG, 550 Gould S, 444 Hughes IA, 574 Langlois S, 432 Mathieu M, 77, 358 Goyanes V, 84 (L) Humphries P, 630 (L) Lanzi G, 366 Matsuda I, 645 Graff C, 630 (L) Huppert FA, 1002 Larget-Piet D, 77 Matsumoto T, 645 Graham JM, 585, 947 Hiirliman R, 274 Lavilla NR, 413 Matsumura M, 621 Grant ME, 450 Hurst JA, 977 Lavin M, 120 Matsuo N, 1027 Grant PJ, 336 Hutchings SM, 435 Lawrence MD, 704 Matsushita S, 113 Gray JR, 403, 758 Hutter P, 636 Lawson K, 856 Matsuura T, 645 Grebe T, 947 Lazaro C, 338 Matthijs G, 469 Grebner EE, 829 Iafolla AK, 600 Le Merrer M, 749 Maugard-Louboutin C, 731 Green AJ, 574, 594, 962 Ignatius J, 93, 507 Leanage R, 300 May M, 353 Green J, 485 Illa I, 783 Ledbetter DH, 69, 1011 Maynard J, 148 Green JS, 328 Ilus TE, 344 Lee H-H, 371 Mears AJ, 952 Green T, 856 Imaizumi K, 877 Lee J, 485 Meire F, 869 Greenberg J, 511 Inglehearn C, 262 (L) Lefebvre S, 281 Melki J, 281 Greenberg SA, 1048 Inglehearn CF, 518 Legeai-Mallet L, 749 Mendell JR, 324 Greenspan DS, 940 Ion A, 767 Legius E, 469 Mendizabal H, 719 (L) Gregersen PK, 1015 Ionasescu VV, 1048 Lehane M, 18 Mendonca BB, 465 Gregory DW, 493 Ippel PF, 29 Leitao N, 244 Michie S, 313, 806 (L) Gregory H, 187 Irvine AD, 972 Lepaslier D, 353 Michon A, 661 Gregory JW, 143 Ishihara T, 1027 Levade T, 682 Middleton-Price HR, 258 Grigoriadou M, 1043 Iughetti P, 97, 439 (L) Lévy A, 719 (L) Mikelsaar RV, 344 Grobbelaar JJ, 384 Izzo P, 786 Levy HL, 161 Mila M, 338 Grover VK, 887 (L) Levy R, 128 Miller N, 672 Gu S-M, 103 Tackson L, 793 Lich C, 848 Miller R, 981 Gu XX, 52 Jalal SM, 237 Lifton RP, 25 Milner B, 187 Guittard C, 802 ames C, 795 Liguti¢ I, 882 Milunsky A, 1045 Guldberg P, 161 ames CL, 837 Lin AE, 1045 Minelli A, 441 Guldenschuh I, 274 ames RS, 515 Lin BJ, 521 Mingarelli R, 884 Gittler F, 161 ames WH, 806 (L) Lindenmayer DAE, 923 Mingroni-Netto RC, 611 Guttmacher AE, 256 Jammu V, 240 Lindhout D, 47 Mira C, 244 an S-W, 615 Lindor N, 237 Mitchison HM, 1041 Haan E, 107 ang M-H, 521 Liu DTY, 603 Mithieux G, 358 Haan EA, 665 ansen CCAM, 1007 Liu F-F, 615 Mohamed Z, 714 Haddad BR, 1045 Jansen JC, 379 Llewellyn DH, 437 Mole SE, 1041 Hadden DR, $72 Jansen RPM, 682 Lloyd J, 1051 (L) Moll AC, 923 Hagberg B, 764 arvela I, 1041 Longy M, 333 Mollevanger P, 848 Haites N, 187, 493 jaspers NGJ, 607 Loots WJG, 562 Momoi T, 621 Haites NE, 25, 714 auch A, 795 Lopez de Munain A, 221 Monteiro C, 244 Hall CD, 324 Jawaheer D, 1015 Love DR, 97 Monton FI, 413 Halley DJJ, 47, 1007 Johnson A, 1011 Lovestone S, 128 Moore AT, 328, 919 Halse J, 700 Johnson WG, 655 Lund PM, 641 Moore IE, 515 Hamann U, 633 oris F, 636 Lurie IW, 344 Moran A, 120 Hamburg A, 923 oseph M, 906 Lyngstadaas SP, 137 Moreira ES, 97 Hamel BC], 607, 655 ouet M, 59, 248 Lyonnet S, 996 Moreno F, 590 Hamers AJH, 562 oyce CA, 986 Morimoto K, 525 (L) Hammer HM, 714 oyce JA, 981 Maat-Kievit A, 848 Morimoto Y, 80 Handrock M, 597 Julian-Reynier C, 731 McCarron S, 940 Morrison N, 197 Haner M, 274, 721 McCarthy TV, 18 Morrison PJ, 504, 779 Hannequin D, 661 Kagalwalla AF, 833 McClure RJ, 625 Moss C, 744 Hardy C, 422 Kahler SG, 600, 760 MacConnachie AA, 25 Motoh PCC, 562 Harper Jl, 258 Kallén B, 809 McCormack LJ, 336 Mowrey P, 719 (L) Harper PS, 2 (RA), 173 (L), 912 Kalousek DK, 529 (RA) McDermid H, 952 Mueller RF, 480 Harris A, 623 Kang S, 947 McDonald-McGinn DM, 678 Miller H, 274, 721 Harris H, 346 Kaplan J, 77 McDonald T, 240 Mulley JC, 308 Harris J, 809 Kato S, 1027 McDonald V, 313 Mulvihill J, 716 Harris R, 266 (E), 346 Kawai M, 525 (L), 621 McElreavey K, 767 Mundlos S, 511 Harrison JB, 940 Kayserili H, 469 McFadden DE, 842 Munnich A, 77, 281, 749, 996 Harrison PR, 437 Keating KE, 18 McGaughran JM, 82 Munroe PB, 1041 Hartley N, 120 Keen J, 262 (L) McGill J, 107 Muntoni F, 93 Hashimoto T, 525 (L) Kelley RI, 947 McGillivray BC, 842 Muramatsu T, 113 Hata A, 645 Kelly K, 1022 MacGregor AJ, 1015 Murayama M, 113 Hata J, 1027 Kenwrick S, 59, 248 Macha M, 1011 Muroi J, 621 Author Index Murrell J, 559 Potter NT, 168 Schwanitz G, 848 Tanner MS, 833 Mutton D, 387 Poza JJ, 221 Schwartz C, 353 Tarttelin E, 262 (L) Prence EM, 829 Schwarze U, 649 Tarttelin EE, 518 Nambu M, 621 Prior TW, 324 Schwinger E, 103 Tasman WS, 678 Narod SA, 534, 814 Proesmans W, 349 (L) Scobie GA, 437 Tayebi N, 132 Nasioulas S, 157 Psilas K, 1043 Scorer J, 203 Taylor AK, 376 Natowicz MR, 829 Pulleyn LJ, 744 Scott D, 928 Teare MD, 120 Neale K, 268 Scott RJ, 274, 636, 721 Tebbutt SJ, 623 Nee HL, 1011 Quane KA, 18 Scourfield J, 912 Teebi AS, 212 Nellist M, 47 Quarrell OWJ, 319 Searby C, 1048 Telford N, 625 Nerup J, 899 Qumsiyeh MB, 600 Searle AG, 289 Telvi L, 767 Nevin NC, 779, 972 Sebastio G, 475, 786 Temple IK, 444 Newbury-Ecob RA, 300 Raams A, 607 Seculi JL, 820 ten Brink JB, 869 Newell SJ, 625 Raas-Rothschild A, 996 Sedano MJ, 783 ten Kate LP, 526 (L) Newsom-Davis J, 1 Raeburn JA, 300, 504 Sedra MS, 324 Terao A, 80 Ng H-T, 371 Raeymaekers P, 52, 899 Seia M, 1052 (L) Tézenas du Montcel S, 719 (L) Nicholls AC, 940 Raia V, 73, 475, 1052 (L) Sekido K, 877 Tharapel AT, 772 Nicholls EJ, 86 (L) Ramalho AS, 525 (L) Selby R, 107 Thiart R, 802 Nicolaides P, 419 Ramalho E, 244 Semper J, 187 Thies C, 597 Niermeijer MF, 1007 Ramesar RS, 511 Sepp T, 962 Thomas AW, 253 Nishi T, 877 Ramesh KH, 395 Serin D, 731 Thompson C, 86 (L) Nishiyori A, 645 Ramos J, 409 Sham P, 128 Thompson PW, 148 Noguas C, 731 Ramsay M, 802 Shattuck-Eidens D, 814 Thompson RJ, 833 Nordbo H, 137 Rantanen J, 184 Shaw M-A, 672 Thrane PS, 137 Norio R, 184 Rash B, 450 Sheffield L, 1051 (L) Tiepolo L, 366 Norman A, 120 Ray PN, 823 Shen MH, 2 (RA) Tijmes N, 869 North KN, 806 (L) Reardon W, 744, 1037 Sherratt EJ, 253 Tillberg E, 399 Northover JM, 540 Reddy KS, 852 Shimadzu M, 645 Tipton RE, 772 Northrup H, 559 Redonnet-Vernhet I, 682 Shimizu K, 621 Tisherman SE, 716 Nur AMA, 887 (L) Rees M, 435 Shimura N, 574 Tolmie JL, 197, 578 Regis S, 251 Shirakawa T, 525 (L) Tomczak J, 829 Obenbergerova D, 165 Reid E, 197 Shugart YY, 655 Tomlin PI, 69 Ohhama Y, 877 Reis A, 597 Siassi B, 852 Tomlinson IPM, 268 Oksanen T, 184 Rellos P, 837 Sibthorpe D, 672 Tonin P, 814 Okuno T, 621 Renier WO, 458 Sidransky E, 132 Tonin PN, 534 Oley CA, 66 Reus VI, 544 Sillence DO, 965 Torhorst J, 721 Olien L, 534 Reuser AJJ, 458 Silman AJ, 1015 Torra R, 409 Oliveira JR, 97 Ribeiro H, 341 Silva ID, 525 (L) Toulouse C, 333 Oliver JE, 940 Ribeiro MG, 341 Simard J, 814 Trask B, 507 Oliver K, 480 Richards FM, 328 Simons P, 607 Treacy E, 42 Ollier WER, 1015 Richards M, 485, 1032 (H) Sirvent J, 820 Trembath RC, 873, 1037 Olney A, 947 Richards RI, 665 Sistonen P, 36 Trent RJ, 107 Oosterhof AW, 379 Riemslag F, 869 Skelly BJ, 284 Trojani M, 333 Oosterwijk JC, 379 Rippa E, 73, 475 Skoinick M, 814 Tupler R, 366 Oosthuizen CJJ, 384 Roberson J, 842 Slabbers GHPR, 261 (L) Tyler-Smith C, 465 Oostra BA, 1007 Robert E, 809 Sleegers E, 848 Tysoe C, 1002 O’Rawe AM, 1041 Roberts A, 56 Slife L, 716 Orsoni P, 731 Roberts AG, 437 Smeets D, 153 Uchino M, 80 Orstavik KH, 700 Roberts SH, 148 Smith A, 107, 795 Upadhyaya M, 2 (RA), 148 Orstavik RE, 700 Robinson D, 216, 1002 Smith ACM, 1011 Urioste M, 429 Orth U, 103 Robson L, 795 Smith DI, 842 Urquhart AJ, 437 Oscier D, 993 Rochlitz C, 721 Smith DP, 84 (L) Usha R, 887 (L) Oterino A, 413 Rodrigues N, 1019 Smith LB, 544 Uyama E, 80 Otto PA, 611 Rodrigues NR, 93 Smith ME, 704, 772 Oude Luttikiuis MEM, 873 Rodriguez JI, 429 Smith PJ, 143 Vainzof M, 97, 173 (L) Overhauser J, 240 Roest PAM, 935 Snel AL, 230 Vaiero A, 590 Owen N, 93 Rogers JG, 968 Snyder PJ, 324 Valero MC, 590 Rose SR, 772 Sobol H, 731 Valverde D, 84 (L) Padberg GW, 29 Rosell J, 783 Sokal EM, 444 van Aarem A, 753 Padoan R, 1052 (L) Rosenberg C, 611 Soldan JR, 173 (L), 912 Van Allen MI, 432 Pai GS, 906 Ross M, 42 Soler C, 820 van Bael M, 829 Palmeira MM, 341 Rosser EM, 977 Somers GR, 157 Van den Berghe H, 737 Papageorgiou C, 1043 Rossi A, 441 Sonin T, 341 van den Ouweland A, 848 Papenhausen PR, 906 Roth J, 274 Sorour E, 148 van den Ouweland AMW, 47, 458, Papp AC, 324 Rousseau F, 749 Spaepen M, 899 1007 Parad RB, 711 Rozet J-M, 77 Spencer V, 435 van der Burgt I, i153, 607 Passos-Bueno MR, 97, 173 (L) Rubinsztein DC, 1002 Sperling K, 597 van der Mey AGL, 379 Patel S, 93 RueffJ , 244 Spigelman AD, 268 van der Smagt JJ, 261 (L) Paykel ES, 1002 Rumsby G, 798 Spranger J, 649 van der Tuijn AC, 935 Payne SJ, 120, 328, 919 Rutland P, 744 Spycher M, 274, 721 Van der Wielen MJR, 29 Pella K, 633 Steinberg SJ, 295 van Diggelen OP, 458 Penet C, 661 Sa Miranda MC, 341 Steinmann B, 649 van Elburg RM, 47 Penman Split M, 498 Sabry MA, 165, 887 (L) Stewart FJ, 972 van Essen AJ, 47 Perandones C, 227 Saénz A, 221 Stéhr H, 233 van Hemel JO, 1007 Pereira S, 84 (L) Sakuraba H, 458 Stéss H, 649 van Ommen GJB, 935 Petersen MB, 1043 Salvatore D, 73, 475 Strachan T, 97 van Schothorst EM, 379 Petrij F, 82 Salvatore F, 73, 475, 786 Strain L, 248 Varady E, 203 Philip N, 719 (L) Salvayre R, 682 Strasberg P, 823 Vargas Vera RM, 227 Phillips RKS, 268 Sampson J, 47, 480 Strathdee G, 240 Varghese M, 203 Piantanida M, 441 Sanchez A, 338 Strautnieks SS, 833 Vasquez L, 97 Piazzo N, 361 Sandford RN, 594 Stroppiano M, 251 Vassilopoulos D, 1043 Pieke-Dahl S, 753 Santamaria R, 786 Stubblefield BK, 132 Vaughan M, 148 Pike SJ, 986 Sapers B, 544 Sue W-C, 521 Vazquez C, 820 Pilz DT, 319 Sargan DR, 284 Sulcova V, 852 Vekemans M, 42, 529 (RA) Pifieiro C, 84 (L) Sasaki H, 621 Super M, 120 Velagaleti GVN, 772 Pinheiro M, 230 Sasaki S, 525 (L) Superti-Furga A, 649, 957 Velasco E, 590 Pinto E, 341 Satish J, 1011 Surh LC, 1011 Venditti C, 842 Pinto F, 413 Say B, 84 (L) Sutherland GR, 308 Vennin P, 731 Pinto RA, 341 Scarpelli H, 42 Suzuki Y, 458 Verellen G, 444 Piraud M, 767 Schaffer AA, 947 Swillen A, 349 (L) Verheij C, 1007 Pivetta OH, 227 Scherer SW, 507 Sykes B, 450 Verhoef S, 47 Pivnick EK, 704, 772 Schindler D, 458 Syvanen A-C, 1041 Verloes A, 444 Pizzolato G-P, 132 Schinzel AA, 289 Verma RS, 395 Plant C, 518 Schleutker J, 36 Tahvanainen E, 116 Verp MS, 1011 Ploos van Amstel JK, 682 Schlésser M, 103 Tai T-Y, 521 Jeske A, 103 Pociot F, 899 Schmidt H, 749 Takahashi Y, 621 Vianna-Morgante AM, 611 Polychronakos C, 42 Schofield A, 187 Takakubo F, 80 Villa M, 338 Ponder BAJ, 726 Schollen E, 469 Takano T, 1027 Viner RM, 574 Ponder M, 485, 1032 (H) Schénherr U, 233 Talbot IC, 268 Viollet L, 281 Ponsot G, 767 Schrander-Stumpel CTRM, Talbot K, 93, 1019 Voorhoeve E, 29 Pope FM, 940 655 Tamasi S, 786 Vrtel R, 47 Porta J, 132 Schuitema-Dijkstra AR, 607 Tan KEWP, 923 Vulliamy T, 993 Porteous MEM, 256 Schuurman EJM, 869 Tanaka Y, 877 Wadelius C, 630 (L) 1060 Author Index Wahlstrém J, 764 Weiss L, 906 Williams H, 672 Yorifuji T, 621 Wallace G, 107 Weissenbach J, 518, 749 Wilroy RS, 772 Yoshikawa K, 52 5 (L) Wallace RH, 308 Weksberg R, 432 Winchester BG, 284 Yoshikawa T, 52 5 (L) Wallerstein R, 793 Westwood ATR, 802 Winter RM, 289, 744 Yoshino M, 645 Walley AJ, 689 Wevers RA, 458, 682 Winterpacht A, 649 Young ID, 300, 603 Wallis GA, 450 Whatley SD, 437 Wright M, 66 Young MA, 157 Walsh S, 981 Whiteford ML, 578 Wu H-P, 521 Walter AW, 704 Whitehouse R, 120 Wyandt H, 1045 Wang M, 760 Whitelaw S, 540 Wynne-Davis R, 450 Zabel B, 450, 649 Wang T-R, 521 Wiggins S, 856 Zackai EH, 678 WWaanngg TZ,R ,3 7867 9 WWiiljemse nCg,a 10C7, 29 Xu Y, 42 ZZaatmza nMi, M9,7, 819793 (L), 439 (L) Warner JP, 1022 Wilkes D, 744 Zbar B, 716 Watson N, 795 Wilkie AOM, 148 Yamagishi H, 1027 Zergollern L, 882 Webb T, 422 Willemsen R, 458, 1007 Yandell DW, 534 Zimmerman D, 237 Weber BHF, 233 Willi SM, 906 Yasuda T, 80 Zimmermann T, 633 Weber W, 721 Williams CB, 268 Yates JRW, 919, 962 Ziskind A, 384 Webster AR, 328 Williams DK, 873 Yau SC, 550 Zoeteweij MW, 379 Weemaes C, 153 Williams G, 981 Yip M-Y, 789 Zorich B, 986 J Med Genet 1996;33:1061-1074 VOLUME 33 « SUBJECT INDEX A Anal anomalies, An autosomal dominant syndrome of renal 2183 AAG mutation, Clinical features of cystic fibrosis and anogenital malformations with syndactyly, 594 patients with rare genotypes, 73 Androgen insensitivity, Down syndrome in association with Aberdeen Genetic Clinic, Ascertainment of familial ovarian features of the androgen insensitivity syndrome, 574 cancer in the Aberdeen Genetic Clinic, 187 Angelman syndrome Absent tibia, Femoral hypoplasia-unusual facies syndrome with Analysis of parent of origin specific DNA methylation at SNRPN bifid hallux, absent tibia, and macrophallus: a report of a and PW71 in tissues: implication for prenatal diagnosis, Bedouin baby, 165 1011 Acanthosis nigricans, A recurrent mutation, ala391glu, in the Clinical features in 27 patients with Angelman syndrome result- transmembrane region of FGFR3 causes Crouzon syndrome ing from DNA deletion, 107 and acanthosis nigricans, 744 Familial translocations involving 15q11-q13 can give rise to Acetylgalactosaminidase, Human a-N-acetylgalactosaminidase interstitial deletions causing Prader-Willi or Angelman (a-NAGA) deficiency: new mutations and the paradox syndrome, 848 between genotype and phenotype, 458 Angiomyolipoma, A cross sectional study of renal involvement Achondrogenesis type 1B, Achondrogenesis type 1B: syndrome in tuberous sclerosis, 480 of the month, 957 Angiotensin-I converting enzyme, The angiotensin-I con- Acromegaloid facies, An autosomal dominant syndrome of verting enzyme gene (ACE) I/D polymorphism and ACE lev- acromegaloid facial appearance and generalised hypertrichosis els in Pima Indians, 336 terminalis, 972 Animal homologues, An ovine CFTR variant as a putative cys- Acute intermittent porphyria, Acute intermittent porphyria tic fibrosis causing mutation, 623 caused by defective splicing of porphobilinogen deaminase Aniridia, FISH studies in a patient with sporadic aniridia and RNA: a synonymous codon mutation at -22 bp from the 5’ t(7;11)(q31.2;p13), 66 splice site skipping of exon 3, 437 Anotia, The epidemiology of anotia and microtia, 809 Adjacent 1 segregation Anticipation, Familial autosomal dominant dopa responsive Clinical outcomes of adjacent 1 segregation in a familial Parkinson’s disease in three living generations showing extreme translocation t(8;18)(p21.3;p11.23), 515 anticipation and childhood onset, 504 Der(22)t(11;22) resulting from a paternal de novo transloca- APC gene tion, adjacent 1 segregation, and maternal heterodisomy of Correlation between the development of extracolonic manifes- chromosome 22, 952 tations in FAP patients and mutations beyond codon 1403 Adolescence, Huntington’s disease predictive testing: the case in the APC gene, 274 for an assessment approach to requests from adolescents, 912 Modifying locus for familial adenomatous polyposis may be Africa, Distribution of oculocutaneous albinism in Zimbabwe, present on chromosome 1p35-p36, 268 641 Apolipoprotein E African blacks, First report of CFTR mutations in black cystic Apolipoprotein E genotype does not affect age at onset in fibrosis patients of southern African origin, 802 patients with chromosome 14 encoded Alzheimer’s disease: Albinism, Distribution of oculocutaneous albinism in letter, 174 Zimbabwe, 641 No founder effect in three novel Alzheimer’s disease families Albright hereditary osteodystrophy, Isolated autosomal with APP 717 Val-lIle mutation, 661 dominant type E brachydactyly: exclusion of linkage to candi- Arachnoid cyst, Arachnoid cyst and chronic subdural date regions 2q37 and 20q13, 873 haematoma in a child with osteogenesis imperfecta type III Alcoholism, Association between alcoholism and the dopamine resulting from the substitution of glycine 1006 by alanine in D4 receptor gene, 113 the pro «2(I) chain of type I procollagen, 193 Aldolase B Arylsulphatase A gene, Molecular analysis of the arylsul- Molecular basis of hereditary fructose intolerance in Italy: iden- phatase A gene in late infantile metachromatic leucodystrophy tification of two novel mutations in the aldolase B gene, 786 patients and healthy subjects from Italy, 251 Neonatal screening for hereditary fructose intolerance: fre- Asthma quency of the most common mutant aldolase B allele Association between serotonin type 2 receptor (HTR2) and (A149P) in the British population, 837 bronchial asthma in humans: letter, 525 Alpha-N-acetylgalactosaminidase, Human a-N-acetylgalac- Investigation of an interleukin-4 promoter polymorphism for tosaminidase (a-NAGA) deficiency: new mutations and the associations with asthma and atopy, 689 paradox between genotype and phenotype, 458 Asymmetry, Defects in the determination of left-right asymme- Alphoid sequences, Chromosome fragments with alphoid try: syndrome of the month, 498: letter, 1052 sequences derived from a pseudoisodicentric Y chromosome: Ataxia, Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and letter, 84 sensorineural hearing loss (CAPOS): a new syndrome, 419 Alzheimer’s disease Ataxia telangiectasia, Nijmegen breakage syndrome: syndrome Apolipoprotein E genotype does not affect age at onset in patients of the month, 153 with chromosome 14 encoded Alzheimer’s disease: /etter, 174 Atopy, Investigation of an interleukin-4 promoter polymorphism No founder effect in three novel Alzheimer’s disease families for associations with asthma and atopy, 689 with APP 717 Val-lle mutation, 661 ATP7B gene, High frequency of two mutations in codon 778 in The tRNAGIn 4336 mitochondrial DNA variant is not a high exon 8 of the ATP7B gene in Taiwanese families with Wilson penetrance mutation which predisposes to dementia before disease, 521 the age of 75 years, 1002 Atrioventricular canal, Orocardiodigital syndrome: an oral-facial- Amelia, Amelia, dextrocardia, asplenia, and congenital short digital type II variant associated with atrioventricular canal, 416 bowel in deleted ring chromosome 4, 879 Attitude, Attitudes to predictive DNA testing in familial adeno- Amino acid polymorphism, Linkage and association of the matous polyposis, 540 HLA gene complex with IDDM in 81 Danish families: strong Autosomal dominant inheritance linkage between DR®B1Lys71+ and IDDM, 899 Autosomal dominant syndrome of acromegaloid facial appear- Amino acid substitution, PAX genes and human neural tube ance and generalised hypertrichosis terminalis, 972 defects: an amino acid substitution in PAX] in a patient with Exclusion of candidate loci and cholesterol biosynthetic abnor- spina bifida, 655 malities in familial Pallister-Hall syndrome, 947 Amyloid precursor protein, No founder effect in three novel Exclusion of one pedigree affected by adult onset primary open Alzheimer’s disease families with APP 717 Val-lIle mutation, angle glaucoma from linkage to the juvenile glaucoma locus 661 on chromosome 1q21-q31, 1043 1062 Subject Index Autosomal recessive inheritance Emery AEH, Emery MLH. The history of genetic disease: Main clinical features of the three mapped autosomal recessive Duchenne muscular dystrophy or Meryon’s disease, 264 limb-girdle muscular dystrophies and estimated proportion Ferber R, Kryger M. Principles and practice of sleep medicine of each form in 13 Brazilian families, 97 in the child, 263 Neonatal Schwartz-Jampel syndrome: a common autosomal Friedman JM, Polifka JE. The effects of drugs on the fetus and recessive syndrome in the United Arab Emirates, 203 nursing infant, 1055 Odontomicronychial ectodermal dysplasia, 230 Gilbert P. The A-Z reference book of syndromes and inherited Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorders, 2nd ed, 350 malformation, 409 Glover DM, Hames BD, editors. DNA cloning 2: a practical Two sisters with a syndrome of ocular, skeletal, and abdominal approach. Expression systems, 86 abnormalities (OSA syndrome), 884 Harris H. Look back to the future. The cells of the body: a his- Autosome translocation, Hypomelanosis of Ito and X;auto- tory of somatic cell genetics, 1054 some translocations: a unifying hypothesis, 177 Howe C. Gene cloning and manipulation, 440 Isada NB, Drugan A, Johnson MP, Evans M, editors. Maternal genetic disease, 350 B Jackson JF. Genetics and you, 351 Basal cell carcinoma, A Scottish family with Bazex-Dupreé- Jalal SM, Law ME, Dewald GW. Atlas of whole chromosome Christol syndrome: follicular atrophoderma, congenital paint probes. Normal patterns and utility for abnormal hypotrichosis, and basal cell carcinoma, 493 cases, 527 Batten disease, Rapid diagnostic test for the major mutation Kearsey MJ, Pooni HS. The genetical analysis of quantitative underlying Batten disease, 1041 traits, 976 Bazex-Dupré-Christol syndrome, A Scottish family with Kricka LJ, editor. Nonisotopic probing, blotting, and sequenc- Bazex-Dupré-Christol syndrome: follicular atrophoderma, ing. 2nd ed, 87 congenital hypotrichosis, and basal cell carcinoma, 493 Levy ER, Herrington CS, editors. Non-isotopic methods in Becker muscular dystrophy molecular biology. A practical approach, 720 Accurate diagnosis of carriers of deletions and duplications in Locker J, editor. Transcription factors, 1054 Duchenne/Becker muscular dystrophy by fluorescent Markie D, editor. YAC protocols. Methods in molecular dosage analysis, 550 biology volume 54, 630 Identification of carriers of Duchenne/Becker muscular dystrophy Moss C, Savin J. Dermatology and the new genetics, 176 by a novel method based on detection of junction fragments Nicholas FW. Introduction to veterinary genetics, 887 in the dystrophin gene, 1027 Passarge E. Color atlas of genetics, 807 Novel splice site mutation in a Becker muscular dystrophy Pope FM, Smith R. Color atlas of inherited connective tissue patient, 324 disorders, 87 Splicing mutations in DMD/BMD detected by RI-PCR/PTT: Sessa A, Conte F, Serbelloni P, Milani S, editors. A-atosomal detection of a 19AA insertion in the cysteine rich domain dominant polycystic kidney disease, 631 of dystrophin compatible with BMD, 935 Shaw DJ, editor. Molecular genetics of human inherited dis- Bedouins, Indirect inguinal hernia among Bedouins: /etter, 887 ease, 631 Benign adult familial myoclonus epilepsy, Benign adult Shepard TH. Catalog of teratogenic agents, 8th ed, 263 familial myoclonus epilepsy (BAFME): an autosomal domi- Strachan T, Read A. Human molecular genetics, 720 nant form not linked to the dentatorubral pallidoluysian atro- Trent RJ, editor. Handbook of prenatal diagnosis, 526 phy (DRPLA) gene, 80 Brachydactyly type E, Isolated autosomal dominant type E Best’s vitelliform macular dystrophy, Still no evidence for brachydactyly: exclusion of linkage to candidate regions 2q37 heterogeneity in Best’s vitelliform macular dystrophy: /etter, and 20q13, 873 630 BRCAI Beta-hexosaminidase, Clinical, enzymatic, and molecular Ascertainment of familial ovarian cancer in the Aberdeen characterisation of a Portuguese family with a chronic form of Genetic Clinic, 187 G,.-gangliosidosis B1 variant, 341 BRCAI mutations in a selected series of breast/ovarian cancer Beta thalassaemia trait, Evidence of maternal segregation dis- patients, 721 tortion in the sickle cell and beta thalassaemia traits: Jetter, 525 Mutation analysis of the BRCAI1 gene in 23 families with cases Bipolar disorder, Attitudes towards bipolar disorder and pre- of cancer of the breast, ovary, and multiple other sites, 814 dictive genetic testing among patients and providers, 544 BRCA1; BRCA2, German family study of hereditary breast- Birmingham, The representation of ethnic minorities at ovarian cancer, 633 genetic clinics in Birmingham, 56 Breast cancer Blepharophi is, Two sisters with a syndrome of ocular, Attitudes towards cancer predictive testing and transmission of skeletal, and abdominal abnormalities (OSA syndrome), 884 information to the family, 731 Bin! restriction, Direct detection of 4q35 rearrangements BRCAI mutations in a selected series of breast/ovarian cancer implicated in facioscapulohumeral muscular dystrophy patients, 721 (FSHD), 361 Increased incidence of cancer in first degree relatives of women Book reviews with double primary carcinomas of the breast and colon, Bach FH, Auchincloss H, editors. Transplantation immunol- 534 ogy, 526 Mutation analysis of the BRCAI1 gene in 23 families with Baraitser M, Winter RM. Color atlas of congenital malforma- cases of cancer of the breast, ovary, and multiple other tion syndromes, 808 sites, 814 Boue A, editor. Fetal medicine: prenatal diagnosis and man- Breast-ovarian cancer, German family study of hereditary agement, 263 breast-ovarian cancer, 633 Brown TA. Gene cloning: an introduction, 3rd ed, 440 Bridges, Chromosome 3p23 break with ring formation and Chadwick D, Cardew G, editors. Variation in the human translocation of displaced 3p23~>pter segment to 6pter, 789 genome, 976 British Society for Human Genetics, BSHG is born: editori- Ciba Foundation Symposium 192. The molecular biology and al, 265 pathology of elastic tissues, 350 Brittle nails and hair, On the genetics of hypodontia and Ciba Foundation Symposium. Genetics of criminal and anti- microdontia: synergism or allelism of major genes in a family social behaviour, 807 with six affected members, 137 Clark EB, Markwald RR, Takao A, editors. Developmental mechanisms of heart disease, 86 Culver KW. Gene therapy: a handbook for physicians, 175 Cc Czeizel AE, Evans JA, Kodaj I, Lenz W. Congenital limb defi- CAG repeat, A general method for the detection of large CAG ciencies in Hungary. Genetic and teratologic epidemiologi- repeat expansions by fluorescent PCR, 1022 cal studies, 175 Campomelic dysplasia, Evidence to exclude SOX9 as a candi- Dodge JA, Brock DJH, Widdicombe JH, editors. Cystic fibro- date gene for XY sex reversal without skeletal m.~!formation, sis: current topics, 887 800 Subject Index 1063 (CA)n flanking markers, Presymptomatic diagnosis in Conclusive evidence for a distinct congenital stationary night Portuguese FAP families using intragenic RFLPs and (CA)n blindness locus in Xp21.1, 869 flanking markers by fluorescence based semiautomated DNA Confirmation of linkage of Sjégren-Larsson syndrome to chro- analysis, 244 mosome 17 in families of different ethnic origins, 258 Cancer families, Cancer families: what risks are they given and Currarino triad with a terminal deletion 7q35~qter, 877 do the risks affect management?, 977 Cytogenetic and clinical characteristics of a case involving Canine fucosidosis, The molecular defect underlying canine complete duplication of Xpter>Xq13, 237 fucosidosis, 284 Cytogenetic deletion, del(17)(q11.22q21.1), in a patient with Carrier diagnosis sporadic neurofibromatosis type 1 (NF1) associated with Accurate diagnosis of carriers of deletions and duplications in dysmorphism and developmental delay, 148 Duchenne/Becker muscular dystrophy by fluorescent Der(22)t(11;22) resulting from a paternal de novo transloca- dosage analysis, 550 tion, adjacent 1 segregation, and maternal heterodisomy of Identification of carriers of Duchenne/Becker muscular dystro- chromosome 22, 952 phy by a novel method based on detection of junction frag- Detection of a familial cryptic translocation by fluorescent in ments in the dystrophin gene, 1027 situ hybridisation: Jetter, 84 Carrier testing, Non-expression of a common mutation in the Diagnosis of ac omplex chromosomal rearrangement using flu- 21-hydroxylase gene: implications for prenatal diagnosis and orescent in situ hybridisation, 793 carrier testing, 798 Direct detection of 4q35 rearrangements implicated in Cartilage, Achondrogenesis type 1B: syndrome of the month, 957 facioscapulohumeral muscular dystrophy (FSHD), 361 Cataracts, Frequency of myotonic dystrophy gene carriers in Disclosure of five breakpoints in a complex chromosome cataract patients, 221 rearrangement by microdissection and FISH, 562 Central nervous system malformation, Mental retardation, Discordant segregation of Xq28 markers and a mutation in the distinct craniofacial dysmorphism, and central nervous system L1 gene in a family with X linked hydrocephalus, 248 malformation: confirmation of a syndrome, 224 Duplication of distal Xp associated with hypogonadotrophic Cerebellar ataxia, Cerebellar ataxia, areflexia, pes cavus, optic hypogonadism, hypoplastic external genitalia, mental atrophy, and sensorineural hearing loss (CAPOS): a new syn- retardation, and multiple congenital abnormalities, drome, 419 767 CFTR exon 11, Heterogeneity of phenotype in two cystic fibro- Evidence to exclude SOX9 as a candidate gene for XY sex sis patients homozygous for the CFTR exon 11 mutation reversal without skeletal malformation, 800 G551D, 711 Familial translocations involving 15ql1-q13 can give rise to CFTR mutations interstitial deletions causing Prader-Willi or Angelman syn- First report of CFTR mutations in black cystic fibrosis patients drome, 848 of southern African origin, 802 Fine mapping of the dyskeratosis congenita locus in Xq28, 993 Ovine CFTR variant as a putative cystic fibrosis causing muta- FRAXF in a patient with chromosome 8 duplication, 611 tion, 623 Hypomelanosis of Ito and X;autosome translocations: a unify- Thirteen cystic fibrosis patients, 12 compound heterozygous ing hypothesis, 177 and one homozygous for the missense mutation G85E: a Improved genetic mapping of X linked retinoschisis, 919 pancreatic sufficiency/insufficiency mutation with variable Isolated autosomal dominant type E brachydactyly: exclusion clinical presentation, 820 of linkage to candidate regions 2q37 and 20q13, 873 Charcot-Marie-Tooth neuropathy, Arginine-164-tryptophan Jacobsen syndrome: report of a patient with severe eye substitution in connexin32 associated with X linked dominant anomalies, growth hormone deficiency, and hypothy- Charcot-Marie-Tooth disease, 413 roidism associated with deletion 11(q23q25) and review of Chemotactic defect, Microcephaly, characteristic facies, joint 52 cases, 772 abnormalities, and deficient leucocyte chemotaxis: a further Large inv dup(15) chromosome in two generations: /etter, 261 case of the syndrome of Say et al, 227 Large scale deletions of the 5ql3 region are specific to Children Werdnig-Hoffmann disease, 281 Gene deletions in spinal muscular atrophy, 93 Linkage of a medium sized Scottish autosomal dominant Main clinical features of the three mapped autosomal recessive retinitis pigmentosa family to chromosome 7q, 714 limb-girdle muscular dystrophies and estimated proportion Localisation of a new gene for non-specific mental retardation of each form in 13 Brazilian families, 97 to Xq22-q26 (MRX35), 52 Cholestasis, Locus heterogeneity in progressive familial intra- Localisation of two candidate genes for mental retardation hepatic cholestasis, 833 using a YAC physical map of the Xq21.1—21.2 subbands, Chondrodysplasia 353 Mutations within the gene encoding the a1 (X) chain of type X Mapping of the gene for cleidocranial dysplasia in the histori- collagen (COL10A1) cause metaphyseal chondrodysplasia cal Cape Town (Arnold) kindred and evidence for locus type Schmid but not several other forms of metaphyseal homogeneity, 511 chondrodysplasia, 450 Mild phenotype associated with der(9)t(3;9)(p25;p23), 625 New case of fibrochondrogenesis from Spain, 429 Miller-Dieker syndrome resulting from rearrangement of a Chromosome abnormalities familial chromosome 17 inversion detected by fluorescence A 3 year old girl with distal trisomy 19q defined by FISH, 795 in situ hybridisation, 69 Amelia, dextrocardia, asplenia, and congenital short bowel in Modifying locus for familial adenomatous polyposis may be deleted ring chromosome 4, 879 present on chromosome 1p35-p36, 268 Apolipoprotein E genotype does not affect age at onset in Monosomy of distal 4q does not cause facioscapulohumeral patients with chromosome 14 encoded Alzheimer’s disease: muscular dystrophy, 366 letter, 174 Monozygotic twins with 22q11 deletion and discordant phe- Boy with developmental delay and a maternally inherited dele- notypes: /etters,173,261 tion in 15q11q13, 422 New deletion of 18q23 with few typical features of the 18q- Breakpoints in a, B, and satellite IIT DNA sequences of chro- syndrome, 240 mosome 9 result in a variety of pericentric inversions, 395 New family linked to the RP13 locus for autosomal dominant Case of duplication of 13q32-qter and deletion of retinitis pigmentosa on distal 17p, 518 18p11.32->pter with mild phenotype: Patau syndrome and Partial duplication of 3q and distal deletion of 11q in a still- duplications of 13q revisited, 600 birth with an omphalocele containing the liver, short Chromosome 3p23 break with ring formation and transloca- limbs, and intrauterine growth retardation, 615 tion of displaced 3p23~>pter segment to 6pter, 789 Precise localisation of 3p25 breakpoints in four patients with Chromosome fragments with alphoid sequences derived from the 3p- syndrome, 842 a pseudoisodicentric Y chromosome: letter, 84 Prenatal diagnosis in Treacher Collins syndrome using com- Clinical features in 27 patients with Angelman syndrome bined linkage analysis and ultrasound imaging, 603 resulting from DNA deletion, 107 Prevalence of 22q11 microdeletion: letter, 719 Clinical outcomes of adjacent 1 segregation in a familial “Pure” partial trisomy 4q25-qter owing to a de novo 4;22 translocation t(8;18)(p21.3;p11.23), 515 translocation, 344 1064 Subject Index Refined mapping of a gene for split hand-split foot malforma- Complex chromosomal rearrangement tion (SHFM3) on chromosome 10q25, 996 Diagnosis of a complex chromosomal rearrangement using flu- Renal and urological tract malformations caused by a 22q11 orescent in situ hybridisation, 793 deletion: letter, 349 Disclosure of five breakpoints in a complex chromosome Report of a critical recombination further narrowing the TSC1 rearrangement by microdissection and FISH, 562 region, 559 Conductive hearing loss, Possible autosomal recessive inheri- Small extra ring chromosome derived from chromosome 10p: tance of progressive hearing loss with stapes fixation, 597 clinical report and characterisation by FISH, 399 Confined placental mosaicism, Confined placental Split hand/split foot malformation, deafness, and mental retar- mosaicism: review article, 529 dation with a complex cytogenetic rearrangement involving Congenital adrenal hyperplasia, Direct molecular diagnosis 7q21.3, 507 of CYP21 mutations in congenital adrenal hyperplasia, 371 Suggestion of a major gene for familial febrile convulsions Congenital heart defect, Orocardiodigital syndrome: an oral- mapping to 8q13-—21, 308 facial-digital type II variant associated with atrioventricular Translocation between chromosomes 6 and 15 canal, 416 (45,XX,t(63;15)(q253;q11.2)) with further evidence for Congenital hypertrophy of the retinal pigment epithelium, lack of imprinting of the insulin-like growth factor II/man- A novel deletion at codon 441 of the APC gene associated with nose-6-phosphate receptor in humans, 42 ophthalmic lesions (CHRPE) in a South African family, 384 Two sibs with Wolf-Hirschhorn and DiGeorge deletions result- Congenital short bowel, Amelia, dextrocardia, asplenia, and ing from an unbalanced chromosome rearrangement, congenital short bowel in deleted ring chromosome 4, 879 45,XX/XY,der(4)t(4;22)(p16.3;q11.2)mat, -22, 852 Congenital stationary night blindness, Conclusive evidence Uneven X inactivation in a female monozygotic twin pair with for a distinct congenital stationary night blindness locus in Fabry disease and discordant expression of a novel mutation Xp21.1, 869 in the a-galactosidase A gene, 682 Connexin32, Arginine-164-tryptophan substitution in connex- Williams-Beuren syndrome: phenotypic variability and deie- in32 associated with X linked dominant Charcot-Marie-Tooth tions of chromosomes 7, 11, and 22 in a series of 52 disease, 413 patients, 986 Consanguinity, Rett syndrome, classical and atypical: genealog- X chromosome inactivation pattern in female carriers of X ical support for common origin, 764 linked hypophosphataemic rickets, 700 Cornea plana congenita, The genetics of cornea plana con- X inactivation analysis in a female with hypomelanosis of Ito genita, 116 associated with a balanced X;17 translocation: evidence for Craniocerebellocardiac syndrome, Should the 3C (cranio- functional disomy of Xp, 216 cerebellocardiac) syndrome be included in the spectrum of Xp pseudoautosomal gene haploinsufficiency and linear velocardiofacial syndrome and DiGeorge sequence? letter, 719 growth deficiency in three girls with chromosome Craniofacial dysmorphism, Mental retardation, distinct cran- Xp22;Yq11 translocation, 906 iofacial dysmorphism, and central nervous system malforma- Chromosome microdissection, Disclosure of five breakpoints tion: confirmation of a syndrome, 224 in a complex chromosome rearrangement by microdissection Crouzon syndrome, A recurrent mutation, ala39I1glu, in the and FISH, 562 transmembrane region of FGFR3 causes Crouzon syndrome Cleidocranial dysplasia, Mapping of the gene for cleidocranial and acanthosis nigricans, 744 dysplasia in the historical Cape Town (Arnold) kindred and Cryptic complex chromosomal rearrangement, Familial evidence for locus homogeneity, 511 Wolf-Hirschhorn syndrome resulting from a cryptic transloca- Cluster, Familial cluster of ovarian small cell carcinoma: a new tion: a clinical and molecular study, 197 mendelian entity? 333 Cryptic translocation, Detection of a familial cryptic translo- Cockayne syndrome, Xeroderma pigmentosum-Cockayne cation by fluorescent in situ hybridisation: /etter, 84 syndrome complex: a further case, 607 CTG repeat length, CTG repeat length in muscle from patients Codon 1309 mutation, Familial adenomatous polyposis in a 5 affected with myotonic dystrophy: /etter, 173 year old child: a clinical, pathological, and molecular genetic Currarino triad, Currarino triad with a terminal deletion study, 157 7q35~>qter, 877CYP21, Direct molecular diagnosis of CYP21 Codon 1403, Correlation between the development of extra- mutations in congenital adrenal hyperplasia, 371 colonic manifestations in FAP patients and mutations beyond Cystic fibrosis codon 1403 in the APC gene, 274 Clinical features of cystic fibrosis patients with rare genotypes, COFS syndrome, Xeroderma pigmentosum-Cockayne syn- 73 drome complex: a further case, 607 First report of CFTR mutations in black cystic fibrosis patients COL2A\1, The deletion of six amino acids at the C-terminus of of southern African origin, 802 the a1 (II) chain causes overmodification of type II and type XI First report of three cystic fibrosis patients homozygous for the collagen: further evidence for the association between small 1717-1G~>A mutation: /etter, 1052 deletions in COL2A1 and Kniest dysplasia, 649 Heterogeneity of phenotype in two cystic fibrosis patients COL2A!1 gene, PCR assay confirms diagnosis in syndrome with homozygous for the CFTR exon 11 mutation G551D, 711 variably expressed phenotype: mutation detection in Stickler Molecular epidemiology of cystic fibrosis mutations and hap- syndrome, 678 lotypes in southern Italy evaluated with an improved semi- Collagen automated robotic procedure, 475 Deletion of six amino acids at the C-terminus of the al( II) Ovine CFTR variant as a putative cystic fibrosis causing muta- chain causes overmodification of type II and type XI tion, 623 collagen: further evidence for the association between small Second cousins with cystic fibrosis and no common ancestor deletions in COL2Al1 and Kniest dysplasia, 649 who is a carrier: /etter, 526 Exon skipping mutation of a type V collagen gene (COL5A1) Thirteen cystic fibrosis patients, 12 compound heterozygous in Ehlers-Danlos syndrome, 940 and one homozygous for the missense mutation G85E: a Mutations within the gene encoding the a1 (X) chain of type X pancreatic sufficiency/insufficiency mutation with variable collagen (COLI0A1) cause metaphyseal chondrodysplasia clinical presentation, 820 type Schmid but not several other forms of metaphyseal Cytogenetic aberration, The dysmorphic human-mouse chondrodysplasia, 450 homology database (DHMHD): an interactive World-Wide Colon cancer Web resource for gene mapping, 289 Increased incidence of cancer in first degree relatives of women with double primary carcinomas of the breast and colon, D 534 Deafness Mutation screening of MSH2 and MLH1 mRNA in hereditary Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sen- non-polyposis colon cancer syndrome, 726 sorineural hearing loss (CAPOS): a new syndrome, 419 Colorectal cancer, Microsatellite instability in early onset and Pendred syndrome: syndrome of the month, 1037 familial colorectal cancer, 981 Degenerate oligonucleotide primer-PCR, Disclosure of five Columellar groove, Mirror hands and feet: a further case of breakpoints in a complex chromosome rearrangement by Laurin-Sandrow syndrome, 426 microdissection and FISH, 562 Subject Index 1065 Dejerine-Sottas disease, Dejerine-Sottas disease with sen- Molecular scanning of candidate mitochondrial tRNA genes in sorineural hearing loss, nystagmus, and peripheral facial nerve type 2 (non-insulin dependent) diabetes mellitus, 253 weakness: de novo dominant point mutation of the PMP22 Diagnostic test, Rapid diagnostic test for the major mutation gene, 1048 underlying Batten disease, 1041 Deletion DiGeorge deletion, Two sibs with Wolf-Hirschhorn and Accurate diagnosis of carriers of deletions and duplications in DiGeorge deletions resulting from an unbalanced chromsome Duchenne/Becker muscular dystrophy by fluorescent rearrangeme4n5,t , XX/XY,der(4)t(4;22) (p16.33;q11.2)mat, dosage analysis, 550 -22, 852 Amelia, dextrocardia, asplenia, and congenital short bowel in DiGeorge sequence, Should the 3C (craniocerebellocardiac) deleted ring chromosome 4, 879 syndrome be included in the spectrum of velocardiofacial syn- Boy with developmental delay and a maternally inherited dele- drome and DiGeorge sequence? letter, 719 tion in 15q11q13, 422 DiGeorge syndrome, Prevalence of 22q11 microdeletion: letter, Case of duplication of 13q32-qter and deletion of 719 18p11.32~pter with mild phenotype: Patau syndrome and Disrupted growth plates, Disrupted growth plates and pro- duplications of 13q revisited, 600 gressive deformities in osteogenesis imperfecta as a result of Currarino triad with a terminal deletion 7q35->qter, 877 the substitution of glycine 585 by valine in the a2(I) chain of Cytogenetic deletion, del(17)(q11.22q21.1), in a patient with type I collagen, 968 sporadic neurofibromatosis type 1 (NF1) associated with Dizygotic twins, Unexpected HLA haplotype sharing in dizy- dysmorphism and developmental delay, 148 gotic twin pairs discordant for rheumatoid arthritis, 1015 Deletion of six amino acids at the C-terminus of the a1( II) DNA diagnosis chain causes overmodification of type II and type XI colla- Diagnostic, predictive, and prenatal testing for facioscapulo- gen: further evidence for the association between small dele- humeral muscular dystrophy: diagnostic approach for spo- tions in COL2A\1 and Kniest dysplasia, 649 radic and familial cases, 29 Familial translocations involving 15ql1l-ql3 can give rise to Direct detection of 4q35 rearrangements implicated in interstitial deletions causing Prader-Willi or Angelman syn- facioscapulohumeral muscular dystrophy (FSHD), 361 drome, 848 Relationship between (CAG)n repeat number and age of onset Gene deletions in spinal muscular atrophy, 93 in a family with dentatorubral-pallidoluysian atrophy Jacobsen syndrome: report of a patient with severe eye anoma- (DRPLA): diagnostic implications of confirmatory and pre- lies, growth hormone deficiency, and hypothyroidism associ- dictive testing, 168 ated with deletion 11(q23q25) and review of 52 cases, 772 DNA repair, Rothmund-Thomson syndrome: two case reports Large scale deletions of the 5q13 region are specific to show heterogeneous cutaneous abnormalities, an association Werdnig-Hoffmann disease, 281 with genetically programmed ageing changes, and increased Mild phenotype associated with der(9)t(3;9)(p25;p23), 625 chromosomal radiosensitivity, 928 Monozygotic twins with 22q11 deletion and discordant phe- Dopamine D4 receptor, Association between alcoholism and notypes: /etters, 173, 261 the dopamine D4 receptor gene, 113 Mosaicism for the fragile X syndrome full mutation and dele- Dot blot analysis, Molecular epidemiology of cystic fibrosis tions within the CGG repeat of the FMRI gene, 338 mutations and haplotypes in southern Italy evaluated with an New deletion of 18q23 with few typical features of the 18q- improved semiautomated robotic procedure, 475 syndrome, 240 Down syndrome Novel deletion at codon 441 of the APC gene associated with Cytogenetic and epidemiological findings in Down syndrome, ophthalmic lesions (CHRPE) in a South African family, 384 England and Wales 1989 to 1993, 387 Partial duplication of 3q and distal deletion of 11q in a still- Down syndrome in association with features of the androgen birth with an omphalocele containing the liver, short limbs, insensitivity syndrome, 574 and intrauterine growth retardation, 615 Down syndrome in sub-Saharan Africa: review article, 89 Prevalence of 22q11 microdeletion: Jetter, 719 The male excess in Down’s syndrome: letter, 806 Renal and urological tract malformations caused by a 22q11 DRPLA deletion: /etter, 349 Benign adult familial myoclonus epilepsy (BAFME): an auto- Rubinstein-Taybi syndrome with deletions of FISH probe RT 1 somal dominant form not linked to the dentatorubral palli- at 16p13.3: two UK patients, 82 doluysian atrophy (DRPLA) gene, 80 Two sibs with Wolf-Hirschhorn and Di George deletions The relationship between (CAG)n repeat number and age of resulting from an unbalanced chromosome rearrangement, onset in a family with dentatorubral-pallidoluysian atrophy 45,XX/YY,der(4)t(4;22)(p16.33;q11.2)mat,-22, 852 (DRPLA): diagnostic implications of confirmatory and pre- Williams-Beuren syndrome: phenotypic variability and dele- dictive testing, 168 tions of chromosomes 7, 11, and 22 in a series of 52 Duchenne/Becker muscular dystrophy patients, 986 Accurate diagnosis of carriers of deletions and duplications in Dementia, The tRNAGIn 4336 mitochondrial DNA variant is Duchenne/Becker muscular dystrophy by fluorescent not a high penetrance mutation which predisposes to dementia dosage analysis, 550 before the age of 75 years, 1002 Identification of carriers of Duchenne/Becker muscular dystro- Dentatorubral pallidoluysian atrophy phy by a novel method based on detection of junction frag- Benign adult familial myoclonus epilepsy (BAFME): an auto- ments in the dystrophin gene, 1027 somal dominant form not linked to the dentatorubral palli- Splicing mutations in DMD/BMD detected by RT-PCR/PTT: doluysian atrophy (DRPLA) gene, 80 detection of a 19AA insertion in the cysteine rich domain of Relationship between (CAG)n repeat number and age of onset dystrophin compatible with BMD, 935 in a family with dentatorubral-pallidoluysian atrophy Duplication (DRPLA): diagnostic implications of confirmatory and pre- Accurate diagnosis of carriers of deletions and duplications in dictive testing, 168 Duchenne/Becker muscular dystrophy by fluorescent Dentition, Odontomicronychial ectodermal dysplasia, 230 dosage analysis, 550 Der(22)t(11;22), Der(22)t(11;22) resulting from a paternal de Case of duplication of 13q32~qter and deletion of novo translocation, adjacent 1 segregation, and maternal het- 18p11.32->pter with mild phenotype: Patau syndrome and erodisomy of chromosome 22, 952 duplications of 13q revisited, 600 Developmental delay Duplication of distal Xp associated with hypogonadotrophic A boy with developmental delay and a maternally inherited hypogonadism, hypoplastic external genitalia, mental retar- deletion in 15q11q13, 422 dation, and multiple congenital abnormalities, 767 A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with Large inv dup(15) chromosome in two generations: letter, 261 sporadic neurofibromatosis type 1 (NF1) associated with Mild phenotype associated with der(9)t(3;9)(p253;p23), 625 dysmorphism and developmental delay, 148 Partial duplication of 3q and distal deletion of 11q in a still- Diabetes mellitus birth with an omphalocele containing the liver, short limbs, Linkage and association of the HLA gene complex with IDDM and intrauterine growth retardation, 615 in 81 Danish families: strong linkage between DR®81Lys71+ Dyskeratosis congenita, Fine mapping of the dyskeratosis con- and IDDM, 899 genita locus in Xq28, 993 1066 Subject Index Dysmorphic features, A 3’ year old girl with distal trisomy Familial ovarian cancer, Ascertainment of familial ovarian 19q defined by FISH, 795 cancer in the Aberdeen Genetic Clinic, 187 Dysmorphic syndrome, The dysmorphic human-mouse Family, Attitudes towards cancer predictive testing and trans- homology database (DHMHD): an interactive World-Wide mission of information to the family, 731 Web resource for gene mapping, 289 Family history Dysmorphism, A cytogenetic deletion, Family history and perceived vulnerability to some common del(17)(q11.22q21.1), in a patient with sporadic neurofibro- diseases: a study of young people and their parents, 485 matosis type 1 (NF1) associated with dysmorphism and Increased incidence of cancer in first degree relatives of developmental delay, 148 women with double primary carcinomas of the breast and Dysplastic kidneys, Renal-hepatic-pancreatic dysplasia: an colon, 534 autosomal recessive malformation, 409 Febrile convulsions, Suggestion of a major gene for familial febrile convulsions mapping to 8q13-—21, 308 Femoral hypoplasia-unusual facies, Femoral hypoplasia- E unusual facies syndrome with bifid hallux, absent tibia, and Ectodermal dysplasia macrophallus: a report of a Bedouin baby, 165 Hidrotic ectodermal dysplasia of hair, teeth, and nails, 707 Fibrillin-1 mutations Odontomicronychial ectodermal dysplasia, 230 Characterisation of four novel fibrillin-1 (FBN1) mutations in On the genetics of hypodontia and microdontia: synergism or Marfan syndrome, 665 allelism of major genes in a family with six affected mem- Double mutant fibrillin-1 allele in a patient with neonatal bers, 137 Marfan syndrome, 760 Ectrodactyly, Refined mapping of a gene for split hand-split Fibroblast growth factor receptor 3, A recurrent mutation, foot malformation (SHFM3) on chromosome 10q25, 996 ala39lglu, in the transmembrane region of FGFR3 causes Ehlers-Danlos syndrome, An exon skipping mutation of a Crouzon syndrome and acanthosis nigricans, 744 type V collagen gene (COL5A1) in Ehlers-Danlos syndrome, Fibrochondrogenesis, A new case of fibrochondrogenesis from 940 Spain, 429 Endoglin, Clinical heterogeneity in hereditary haemorrhagic Fluorescence in situ hybridisation telangiectasia: are pulmonary arteriovenous malformations Detection of a familial cryptic translocation by fluorescent in more common in families linked to endoglin? 256 situ hybridisation: /etter, 84 Epilepsy Diagnosis of a complex chromosomal rearrangement using flu- Benign adult familial myoclonus epilepsy (BAFME): an auto- orescent in situ hybridisation, 793 somal dominant form not linked to the dentatorubral palli- FISH studies in a patient with sporadic aniridia and doluysian atrophy (DRPLA) gene, 80 t(7311)(q31.2;p13), 66 Clinical features in 27 patients with Angelman syndrome Miller-Dieker syndrome resulting from rearrangement of a resulting from DNA deletion, 107 familial chromosome 17 inversion detected by fluorescence Ethnic minorities, The representation of ethnic minorities at in situ hybridisation, 69 genetic clinics in Birmingham, 56 Molecular cytogenetic characterisation of the first familial case Ethnicity, The angiotensin-I converting enzyme gene (ACE) of partial 9p duplication (p22p24), 1045 I/D polymorphism and ACE levels in Pima Indians, 336 New deletion of 18q23 with few typical features of the 18q- Exon skipping, An exon skipping mutation of a type V collagen syndrome, 240 gene (COL5A1) in Ehlers-Danlos syndrome, 940 Rubinstein-Taybi syndrome with deletions of FISH probe RT1 Extra ring chromosome, Small extra ring chromosome at 16p13.3: two UK patients, 82 derived from chromosome 10p: clinical report and characteri- Small extra ring chromosome derived from chromosome 10p: sation by FISH, 399 clinical report and characterisation by FISH, 399 Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome F ° Xp22;Yq11 translocation, 906 Fabry disease, Uneven X inactivation in a female monozygotic FMRI gene twin pair with Fabry disease and discordant expression of a FMRI fully expanded mutation with minimal methylation in a novel mutation in the a-galactosidase A gene, 682 high functioning fragile X male, 376 Facioscapuloh al muscular dystrophy Mosaicism for the fragile X syndrome full mutation and dele- Diagnostic, predictive, and prenatal testing for facioscapulo- tions within the CGG repeat of the FMRI gene, 338 humeral muscular dystrophy: diagnostic approach for spo- Variable FMR1 gene methylation of large expansions leads to radic and familial cases, 29 variable phenotype in three males from one fragile X fami- Direct detection of 4q35 rearrangements implicated in ly, 1007 facioscapulohumeral muscular dystrophy (FSHD), 361 Follicular atrophoderma, A Scottish family with Bazex- Monosomy of distal 4q does not cause facioscapulohumeral Dupré-Christol syndrome: follicular atrophoderma, congenital muscular dystrophy, 366 hypotrichosis, and basal cell carcinoma, 493 Familial adenomatous polyposis Founder gene, Evidence of a long QT founder gene with vary- Attitudes to predictive DNA testing in familial adenomatous ing phenotypic expression in South African families, 567 polyposis, 540 Fourth locus, Evidence for a fourth locus in Usher syndrome Correlation between the development of extracolonic manifes- type I, 77 tations in FAP patients and mutations beyond codon 1403 Fragile X syndrome in the APC gene, 274 FMRI fully expanded mutation with minimal methylation in a Familial adenomatous polyposis in a 5 year old child: a clini- high functioning fragile X male, 376 cal, pathological, and molecular genetic study, 157 Mosaicism for the fragile X syndrome full mutation and dele- Modifying locus for familial adenomatous polyposis may be tions within the CGG repeat of the FMR1 gene, 338 present on chromosome 1p35-p36, 268 Variable FMR1 gene methylation of large expansions leads to Presymptomatic diagnosis in Portuguese FAP families using variable phenotype in three males from one fragile X fami- intragenic RFLPs and (CA)n flanking mar‘“xers by fluores- ly, 1007 cence based semiautomated DNA analysis, 244 Frameshift mutation, A novel deletion at codon 441 of the Familial adenomatous polyposis coli, A novel deletion at APC gene associated with ophthalmic lesions (CHRPE) in a codon 441 of the APC gene associated with ophthalmic lesions South African family, 384 (CHRPE) in a South African family, 384 FRAXF, FRAXF in a patient with chromosome 8 duplication, 611 Familial cluster, Familial cluster of ovarian small cell carcino- French patients, Mutation analysis in 24 French patients with ma: a new mendelian entity?, 333 glycogen storage disease type la, 358 Familial colorectal cancer, Microsatellite instability in early Fructose intolerance onset and familial colorectal cancer, 981 Molecular basis of hereditary fructose intolerance in Italy: Familial hypodontia, On the genetics of hypodontia and identification of two novel mutations in the aldolase B microdontia: synergism or allelism of major genes in a family gene, 786 with six affected members, 137 Neonatal screening for hereditary fructose intolerance: fre-