F Med Genet 2001;38:896-907 VOLUME 38 * AUTHOR INDEX Aaltonen LA see Aaltonen L-M er a/ Baker L ez a/. Chromosome 2 interstitial deletion (del(2)(q14.1q21 see Avizienyte E et al associated with connective tissue laxity and an attention deficit Aaltonen L-M ez a/. Role of 7P53 P72R polymorphism in human disorder: /etter, 493 papillomavirus associated premalignant laryngeal neoplasm: BaldisseraI see Janecke AR letter, 327 Balendran N see Veal CD « Abel A sex ee A et al Balko MG see Steigerwald K Adams G see Talks SJ er al Ballabio A see Kayserili H Adér HJ see Henneman L er al Balmer D sec Rothlisberger | Adoun M< see Amaral MD er a/ Barber JCK see Sumption } wd Barber JCK Affara NA see Boucher CA ert al Barber RC Veal CD see Ross NL] et al Barbera R see Moreno-Pelayo M: A Ahmed M see Henwood J et al Bardoel AFJ see Ausems MGI M Ahmed Z see Ben-YosefT ez al Barkardottir RB see Bergthorsso1 ‘1 Ahmed ZM < see Ben-Yosef T er a Barker JNWN see Veal CD Ahonen T see Nopola-Hemmi J er a/ Barker K ez PTEN mutati are uncommon in Proteus Aittomaki K see Gaff C er al syndrome, 480 Akaboshi S see Yamamoto T er a/ Barlow-Stewart K see Mei Akbas F er a/. Molecular and clinical study of two myotonic Barreto C see Amaral MD dystrophy homozygotes: /etrer, e40 Barros F see Ruiz-Ponte ¢ Akrami SM< er a/. Detection of a large TBX5 deletion in a family Barrot S see de Lonlay P with Holt-Oram syndrome, e44 Barrow M< see Watson P Aktan-Collan K er a/. Comprehension of cancer risk one and 12 Barton DE see Rowland JS months after predictive genetic testing for hereditary Barton J Tobias S et a non-polyposis colorectal cancer: /etter, 787 Basaran S$ Kayserili H Albers A see Eggermann T ¢ Baser ME « Maternal gene effect in neurofibromatosis Albrecht B e¢ a/. Uniparental isodisomy for paternal 2p and artefact?: /etter, 783 maternal 2q in a phenotypically normal female with two Bateman A see Eccles D er a isochromosomes, i(2p) and i(2q): /etter, 214 Bates AW. A case of Robert ndrome described in 173 Al-Din A see Hampshire DJ er a/ Batista A Seixas S Al-Gazali LI see Bayoumi R er a/ Baty CJ see Blair I Allada V see Vitale E et al Baumann C see Faivre | Alonso LG see Nadal M et a/ egos « Ret Locali 1 gene for an autosomal recessive Altehéfer C see Bender BU yndrome of mz acroce ly, muluple epiphyseal dysplasia, and Alvarado D see Rainier S er dati nctive facies to chromosome 15q26, 369 Amaral MD ¢ ai. Cystic fibrosis patients with the 3272-26A>G Beals RK, LaFranchi S.D I a new type with splicing mutation have milder disease than F508del distinct facial ippearal r,e22 homozygotes: a large European study, 777 Beck S Amaral MD Ameen M< see Veal CD « Bedeschi M i Amidon D see Lossie AC et a Begnini A iS Amiel J see Imessaoudene B et ai Beis MJ Coulter I 1 AmielJ , Lyonnet S. Hirschsprung disease associated syndromes, Bekiesin- Figatowska MB hrzamn ka KH ¢ and genetics: a review: review, 729 Benda TA \ AmielJ ez a/. Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy : /erter, 850 Bender BU 1utation confers a high age related penet e but 1 ncreased overall mortality, 508 Andersen PS e7 a/. Myosin light chain mutations in familial Benet:t azzo MG f hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations, e43 Bennett CP Andersen PS see Mogensen J er ai Bensimon A id Andrade JAD see Nadal M et Ben-Yishay M see Dat Angelopoulou R see Siffroi JP er Ben-YosefT er a/. Novel MPRSS3 in four Annuss G see Tonnies H e7 a DFNB8’/B10 families congenital autosomal recessi Antinolo G see Li Y et al deafness: /etter, 396 Antoccia A see Maraschio P et a/ Benzacken B Siffroi J] Antonarakis SE see Ben-Yosef ‘1 Berger DP Be Antoniuk SA see Kwok JB] ez Bergthorsson JT ez / and BRCA2 mutation status and Anvret M see Villard L er al cancer family history of Danish women affected with multifocal Arias IM see Kadakol A er a or bilateral breast cancer at a young age, 361 Arico M see Clementi R er Berry PJ see Kelly Al Ariga T see Kobayashi I er a/ Berthaut I see Siffroi JP Armour JAL see Akrami SM er Besana D Maraschio P Arpaia E see Grunebaum E et a Besmond C see Gabolde M Arte §S see Pirinen S et al Bevan §S sce Barker K et « Arveiler B see Coupry I et a Bhattacharya SS see Payne AM er Aslan M see Fritz B ez al Bialecka M see Chrzanowska KH er Au K-S see Khare L et al Biancalana V see Giraudeau F et a Aubert D see Giraudeau F « Bienvenu T Amaral MD er Aubry MC see Viot G et al see Bourdon V et a Aurias A see Gad S et al BierlJa see Jaruzelska J Ausems CWST see Ausems MGEM er a/ Bik E see W agner A et Ausems MGEM see van der Luijt RB er a/ Billingsley G see Vincent A Ausems MGEM ¢ ai. Dutch patients with glycogen storage disease Bird AC see Payne AM type II show common ancestry for the 325delT and del exon 18 ee Tarttelin EE et a mutations: /etter, 527 Bird L see Vitale E et al AutereJ see Finnila S et al Birembaut P see Amaral MD Avizienyte E et al. E-cadherin is not frequently mutated in hereditary Biswas P see Dollfus H ez a gastric cancer: /etter, 49 Bitner-Glindzicz M see Houseman MJ et al Aysal F see Akbas F et a/ Bitner-Glindzicz M see Rickard S et ai Ayuso C see Lorda-Sanchez I et al see Hutchin TP et al see Kelsell DP et a Black G see Watson P et a Badiali M see Steigerwald K er a/ Black S see Ungaro P et a Bahuau M er al. GDNF as a candidate modifier in a type | BlackburnJ see Tarttelin EE « neurofibromatosis (NF1) enteric phenotype: etter, 638 Blackman V see Ehrlich M ez a Bailey IC see McConnell RS er al Blair E er al. Mutations in cis can confound genotype-phenotype Bailey JN see Khare L et al correlations in hypertrophic cardiomyopathy: /etter, 385 F Med Genet 2001;38:896-907 VOLUME 38 * AUTHOR INDEX Aaltonen LA see Aaltonen L-M er a/ Baker L ez a/. Chromosome 2 interstitial deletion (del(2)(q14.1q21 see Avizienyte E et al associated with connective tissue laxity and an attention deficit Aaltonen L-M ez a/. Role of 7P53 P72R polymorphism in human disorder: /etter, 493 papillomavirus associated premalignant laryngeal neoplasm: BaldisseraI see Janecke AR letter, 327 Balendran N see Veal CD « Abel A sex ee A et al Balko MG see Steigerwald K Adams G see Talks SJ er al Ballabio A see Kayserili H Adér HJ see Henneman L er al Balmer D sec Rothlisberger | Adoun M< see Amaral MD er a/ Barber JCK see Sumption } wd Barber JCK Affara NA see Boucher CA ert al Barber RC Veal CD see Ross NL] et al Barbera R see Moreno-Pelayo M: A Ahmed M see Henwood J et al Bardoel AFJ see Ausems MGI M Ahmed Z see Ben-YosefT ez al Barkardottir RB see Bergthorsso1 ‘1 Ahmed ZM < see Ben-Yosef T er a Barker JNWN see Veal CD Ahonen T see Nopola-Hemmi J er a/ Barker K ez PTEN mutati are uncommon in Proteus Aittomaki K see Gaff C er al syndrome, 480 Akaboshi S see Yamamoto T er a/ Barlow-Stewart K see Mei Akbas F er a/. Molecular and clinical study of two myotonic Barreto C see Amaral MD dystrophy homozygotes: /etrer, e40 Barros F see Ruiz-Ponte ¢ Akrami SM< er a/. Detection of a large TBX5 deletion in a family Barrot S see de Lonlay P with Holt-Oram syndrome, e44 Barrow M< see Watson P Aktan-Collan K er a/. Comprehension of cancer risk one and 12 Barton DE see Rowland JS months after predictive genetic testing for hereditary Barton J Tobias S et a non-polyposis colorectal cancer: /etter, 787 Basaran S$ Kayserili H Albers A see Eggermann T ¢ Baser ME « Maternal gene effect in neurofibromatosis Albrecht B e¢ a/. Uniparental isodisomy for paternal 2p and artefact?: /etter, 783 maternal 2q in a phenotypically normal female with two Bateman A see Eccles D er a isochromosomes, i(2p) and i(2q): /etter, 214 Bates AW. A case of Robert ndrome described in 173 Al-Din A see Hampshire DJ er a/ Batista A Seixas S Al-Gazali LI see Bayoumi R er a/ Baty CJ see Blair I Allada V see Vitale E et al Baumann C see Faivre | Alonso LG see Nadal M et a/ egos « Ret Locali 1 gene for an autosomal recessive Altehéfer C see Bender BU yndrome of mz acroce ly, muluple epiphyseal dysplasia, and Alvarado D see Rainier S er dati nctive facies to chromosome 15q26, 369 Amaral MD ¢ ai. Cystic fibrosis patients with the 3272-26A>G Beals RK, LaFranchi S.D I a new type with splicing mutation have milder disease than F508del distinct facial ippearal r,e22 homozygotes: a large European study, 777 Beck S Amaral MD Ameen M< see Veal CD « Bedeschi M i Amidon D see Lossie AC et a Begnini A iS Amiel J see Imessaoudene B et ai Beis MJ Coulter I 1 AmielJ , Lyonnet S. Hirschsprung disease associated syndromes, Bekiesin- Figatowska MB hrzamn ka KH ¢ and genetics: a review: review, 729 Benda TA \ AmielJ ez a/. Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy : /erter, 850 Bender BU 1utation confers a high age related penet e but 1 ncreased overall mortality, 508 Andersen PS e7 a/. Myosin light chain mutations in familial Benet:t azzo MG f hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations, e43 Bennett CP Andersen PS see Mogensen J er ai Bensimon A id Andrade JAD see Nadal M et Ben-Yishay M see Dat Angelopoulou R see Siffroi JP er Ben-YosefT er a/. Novel MPRSS3 in four Annuss G see Tonnies H e7 a DFNB8’/B10 families congenital autosomal recessi Antinolo G see Li Y et al deafness: /etter, 396 Antoccia A see Maraschio P et a/ Benzacken B Siffroi J] Antonarakis SE see Ben-Yosef ‘1 Berger DP Be Antoniuk SA see Kwok JB] ez Bergthorsson JT ez / and BRCA2 mutation status and Anvret M see Villard L er al cancer family history of Danish women affected with multifocal Arias IM see Kadakol A er a or bilateral breast cancer at a young age, 361 Arico M see Clementi R er Berry PJ see Kelly Al Ariga T see Kobayashi I er a/ Berthaut I see Siffroi JP Armour JAL see Akrami SM er Besana D Maraschio P Arpaia E see Grunebaum E et a Besmond C see Gabolde M Arte §S see Pirinen S et al Bevan §S sce Barker K et « Arveiler B see Coupry I et a Bhattacharya SS see Payne AM er Aslan M see Fritz B ez al Bialecka M see Chrzanowska KH er Au K-S see Khare L et al Biancalana V see Giraudeau F et a Aubert D see Giraudeau F « Bienvenu T Amaral MD er Aubry MC see Viot G et al see Bourdon V et a Aurias A see Gad S et al BierlJa see Jaruzelska J Ausems CWST see Ausems MGEM er a/ Bik E see W agner A et Ausems MGEM see van der Luijt RB er a/ Billingsley G see Vincent A Ausems MGEM ¢ ai. Dutch patients with glycogen storage disease Bird AC see Payne AM type II show common ancestry for the 325delT and del exon 18 ee Tarttelin EE et a mutations: /etter, 527 Bird L see Vitale E et al AutereJ see Finnila S et al Birembaut P see Amaral MD Avizienyte E et al. E-cadherin is not frequently mutated in hereditary Biswas P see Dollfus H ez a gastric cancer: /etter, 49 Bitner-Glindzicz M see Houseman MJ et al Aysal F see Akbas F et a/ Bitner-Glindzicz M see Rickard S et ai Ayuso C see Lorda-Sanchez I et al see Hutchin TP et al see Kelsell DP et a Black G see Watson P et a Badiali M see Steigerwald K er a/ Black S see Ungaro P et a Bahuau M er al. GDNF as a candidate modifier in a type | BlackburnJ see Tarttelin EE « neurofibromatosis (NF1) enteric phenotype: etter, 638 Blackman V see Ehrlich M ez a Bailey IC see McConnell RS er al Blair E er al. Mutations in cis can confound genotype-phenotype Bailey JN see Khare L et al correlations in hypertrophic cardiomyopathy: /etter, 385 Author index Blakley P ez a/. A clinical study of patients with multiple isolated Cabanas R neurofibromas: /etter, 485 Cabrol D BlancatoJ see Stratakis CA et a Caethoven G Blanchet P see Lefort G er al Cairns N Blayau M see Amaral MD er Cali A Blescia A see Gong W et al Calvas P BoardmanJP et a/. A novel mutation in the endothelin B receptor Carey A gene in a patient with Shah-Waardenburg syndrome and Down Carles S syndrome: /etter, 646 Carracedo A Bobrow M< see Michie S et a Carrozzo R Boer H see Whittington JE er a Carter N Boetes C see Bongers EMHF Carter ND Boisson C see Olschwang §S « Casals T Bom SJH see Fransen E et a Caselli D Bonaiti-Pellié C see Chompret A er Casey B Bonaglia M see Rossi E Castellan C Bonaventure J see Francannet Castellani C 1e entire coding region of the cystic Bond J see Hampshire DJ et a brosis tr ine regulator gene in neonatal Bondurand N see Pingault V er a! pertrypsinaemia with normal sweat test: /erter, 202 Bongers EMHF ¢t a/. The small pate! i *: description of Castiglia L five cases from three families an <amination f possible allelism with familial patel] hypoplasia and nail-patella Castro M nnotti ta syndrome: /etter, 209 Caulder MS kson f Bonneau D see Giraudeau I Caux-Moncoutier V Gad S Cavalier L luffery-Giraud S Bonnefont J-P see Amiel J Cavani S$ Cerruti Mainardi P Imessaoudene B et a Cazeneuve C Amaral MD Bonne-Tamir B see Ben-Yosef T « Ceccherini I Pingault V et a Book reviews Lander E, Page D, Lif Cerosaletti KM Hiel JAP et a genomics and human genetics, 279 Cerruti Mainardi P ez Clinical and molecular characterisation of Sankoff D, Nadeau JH, editors. Comparative genomics, [ tion: genotype-phenotype correlation, Tanzi RE, Parsons AB. Decoding darkness - the 151 genetic causes of Alzheimer’s lisease, 894 Chabrol B Verlinsky Y, Kuliev A atlas of preimp! Chadwick RB i und somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma: /etter, 461 Borck G et a/. Molecular cy Chae CU Vita 46, XY,t(738311513) chr Chamberlin GP Moebius syndrome Chandra T S Borg A see Bergthorsson J] Chantrel K Borgatti R see Rossi E er a Charbonnier F Borgione E er a/. How microsatellite analy Saugi subtelomeric chromosomal re Chartier-Harlin retardation: /etter, el Chatelain P I Berglum AD see And Chaze AM Mogensen J et a Chelly J Borrego S see Li Y J Bost M see Faivre L a Chen BLS Boucher CA see Ross NL] Chen ] Li Boucher CA « Breakpoint Chen P Xp deletions: implicati Chen RW $91 Chevillard ( Bougeard G Chitayat D mutations Chitty LS French families witl Chomel J-C syndrome: /etter, Chompret A and predictive value of criteria for p53 Bourdon V et a/. Eviden cern m , ett r, 43 mutation in females v Chong B tter, 867 Chou S-P Bourgeron T see Quintana Chouery E Boutouyrie P er a/. Non-invasi Chowdhury in patients affected with Chowdhury Bramsen I see Henneman | Chowdhury Brancolini V see Vitale E et al Chowdhury S Brayne C see Taylor AE er al Chretien D Breen C see McEntagart M et a Christian SL Brennan P ez a/. Congenital diaphragmatic hernia and interstitial Christiansen M deletion of chromosome 3: etter, 556 Mogensen J er a Breuning M see Maat-Kievit A er al Chrzanowska KH er a/. Atypical clinical picture of the Nijmegen Breuning MH see Wagner A et ai breakage syndrome associated with developmental abnormalities Briard M-L see Edery P er a! yff > brain tter, e3 Brink PA see Andersen PS et al Chu CE see Flintoff KJ et a Brécker-Vriends AHJT see Wagner A er a Cinti R Molecular characterisation of a supernumerary ring Brody LC see Eng C et a chromosome in a patient with VATER association: Jeter, e6 Brondum-Nielsen K see Borck G er a! Claes E see Welkenhuysen M eta l Brook JD see Akrami SM er ai Clark AT Dee SL et a Brown R see Ho LW et ai Clarke D see Wh zton JE er a Brugiéres L see Chompret A er Claustres M see Amaral MD et al Bruk I see Kwok JBJ er a! luffery-Giraud S et a Brundler MA see Delozier-Blanchet CD et ai ClavelC see Amaral MDet ai Brunoni D see Nadal M et a! Clayton-Smith J see Watson P er al Bryce G see Tobias S et ai Clementi R ez a/. Six novel mutations in the PRF1 gene in children Budarf ML see Gong W et ai vith haemophagocytic lymphohistiocytosis: /erter, 643 Bugge M see Borck G et a! Clough RL see Veal CD et al Buller RE see Mahavni V er a/ Coates J see Lambert J-C er al Bulman DE see Scoggan KA er al Cohen-Tanugi A see Francannet C eta l Bundgaard H see Andersen PS ez ai Cole TR see Baker L et a Burden AD see Veal CD et al ColganJ see Tobias S et al Burger J see Vanita et al Colistro F see Giannotti A et al Butler J see Whittington JE er al Collins J see Gong W er a Buzhievskaya TI see Rothlisberger B er al Concannon P see Hiel JAP ez Byers PH see Pace JM et al Conde R see Ruiz-Ponte C « Author index Conter V see Clementi R er a/ Deymeer F see Akbas F er ai Cooke A see Dundar M et al Di WL see Houseman MJ e7 a see Tobias S et al Diaw L see Siwarski D et a/ Cordier MP see Faivre L et a/ Dietz H see Gong W eta Corfield VA see Andersen PS et al Dietze I see Fritz B et a/ Cormier-Daire V see de Lonlay P er a/ Dietzmann K see Kirches E et a/ see Faivre L et al Digilio MC see Giannotti A et a see Huber C er al Dinulos MB see Parisi MA et a see Huber C et al di Rocco M see Rossi E et al see Imessaoudene B et a/ Dobyns WB see Ungaro P et a see von Kleist-Retzow J-C et al Dollfus H et a/. Identification of a new TWIST mutation (7p21 with Cornelisse CJ see Wagner A er al variable eyelid manifestations supports locus homogeneity of Costello JF, Plass C. Methylation matters: review, 28 BPES at 3q22: /etter, 470 Coubes P see Tuffery-Giraud S et a/ Dommergues M see Amie! J et Coucke P see van Laer L et al Dong HJ see Lossie AC er a Coucourde G see Cerruti Mainardi P ez al Dork T see Amaral MD et a Coulter-Mackie MB et a/. Multiple metachromatic leucodystrophy see Hughes D et al alleles in an unaffected subject: a case of dispermic chimaerism, see Ockenga J et al els Doudounakis $ see Amaral MD er al Coupry I ez a/. Leucodystrophy and oculocutaneous albinism in a Downes SM< see Payne AM et a child with an 11q14 deletion, 35 Downing S see O'Shaughnessy KM er a! CousinJ see Faivre L et al Downs CA see Erickson RP et a Cox LL see Kayserili H et al Driscoll DA see Gong W Cox TC see Kayserili H et al Driscoll DJ see Lossie AC Cox T see Kelly AL et al Drouin V see de Lonlay P Cremers CWRJ see Fransen E et a/ Drouot N see Saugier-Veber P et ai Cremers FPM< see Fransen E er a/ Duisterhof M ez a/. Psychological studies in Huntington’s disease Croaker GD see Brennan P et a/ making up the balance: /etter, 852 Croquette MF see Giraudeau F er a/ Duncan AMV see Lemyre E et a Crow TJ see Ross NLJ et al Dundar M< er a/. A novel acropectoral syndrome maps to Crow Y see Hampshire DJ er al chromosome 7q36, 304 Crow YJ see Henwood J et a/ Dupont JM see Viot G et Cucci RA see van Laer L et a/ Cummings A see Lambert J-C et a/ Easton D see Taylor AE et a Cummings SA see Fackenthal JD er a/ Ebeling T see Kytola S Cuppens H see Amaral MD er a/ Ebenezer N see Talks SJ Cusin V see Huber C et al Eccles D et al. A novel 3’ m utation in the APC gene in a family presenting with a des id tumour: /etter, 861 Dadoune JP see Siffroi JP er a/ Echenne B see Tuffery-G d S etal Dagenais SL see Erickson RP er al Edery P ez a/. B cell immunodeficiency, distal limb abnormalities, Dagna Bricarelli F see Cerruti Mainardi P et a/ and urogenital malformations in a three generation family: a see Rossi E et al novel autosomal dominant syndrome?: etter, 488 Dagoneau N see Huber C et a/ Egeblad H see Mogensen J et a Dahl H-HM see Houseman MJ er a/ Eggermann K see Albrecht B Dallapiccola B see Giannotti A et al see Eggermann T et a D’ Amelio P see Pescarmona GP et a/ Eggermann T see Albrecht B et a/ Danesino C see Clementi R et a/ Eggermann T ¢t a/. Identification of interstitial maternal uniparental see Maraschio P et al disomy (UPD) (14) and complete maternal UPD(20) in a see Rossi E et al cohort of growth retarded patients, 86 DapenaJ see Amaral MD et a/ Ehrlich M ez a/. High frequencies of ICF syndrome-like Dar P ez al. Potential mapping of corneal dermoids to Xq24-qter: pericentromeric heterochromatin decondensation and breakage letter, 719 in chromosome | in a chorionic villus sample : /erter, 882 David A see Giraudeau F et a/ Eisenbruch M< see Meiser B eta i Dearlove AM see Reid E et a/ Ejlertsen B see Bergthorsson JT « de Blois M-C see de Leersnyder H et a/ Elghezal H see Mégarbanée A et a de Boeck K see Amaral MD er a/ Eller P er al. Wolfram syndrome: a clinical and molecular genetic Debré M see Edery P er ai. analysis: etter, e37 Declau F see Fransen E er a/ Ellis LA see Houseman MJ et a Decruyenaere M see Welkenhuysen M e7 al Emanuel BS see Gong W er a Dee SL et al. A case of ring chromosome 2 with growth retardation, Eng C see Bender BU et a mild dysmorphism, and microdeletion of 2p detected using see Fackenthal JD er a FISH, e32 see Parisi MA et al de Fusco C see Clementi R et al see Reardon W et al de Kok YJM< see Fransen E et al Eng C et ai. Interpreting epidemiological research: blinded del Castillo I see Moreno-Pelayo MA et a/ comparison of methods used to estimate the prevalence of de la Chapelle A see Chadwick RB er a/ inherited mutations in BRCA]/ , 824 Delague V see Mustapha M et a/ Erginel-Unaltuna N see Akbas F ez a/ Delattre O see Bougeard G et al Erickson RP ¢: a/. Clinical heterogeneity in de Leersnyder H ez ai. (},-adrenergic antagonists improve sleep and lymphoedema-distichiasis with FOXC2 truncating mutations, behavioural disturbances in a circadian disorder, Smith-Magenis 761 syndrome, 586 Escayg A see Reid E et ai de Leeuw WJF see Wagner A et al Esiri MM< see Taylor AE et a Delobel B see Giraudeau F er a/ Estivill X see Amaral MD et al de Lonlay P e a/. A broad spectrum of clinical presentations in see Nadal M et al congenital disorders of glycosylation I: a series of 26 cases, 14 Evans C see Fokstuen S et a Delozier-Blanchet CD er a/. Diaphragmatic hernia, hydrocephalus, Evans DGR see Baser ME et a/ and cardiac rnalformations in four pregnancies of a See Hopwood P et al non-consanguineous couple: /etter, 269 see Verma L et al Demaille J see Lefort G er al Evans DGR et al. Science or black magic?: letter, e16 Denayer L see Welkenhuysen M er al Evans JG see Taylor AE et al Denton M< see Dollfus H ez a/ Evers-Kiebooms G see Welkenhuysen M et a/ Depetris D see Mignon-Ravix C et a/ Extermann P see Delozier-Blanchet CD er al de Rienzo A see Vitale E et al der Kaloustian VM see Lemyre E er a/ Fackenthal JD ez a/. Male breast cancer in Cowden syndrome patients des Georges M see Amaral MD er a/ with germline PTEN mutations, 159 Devilee P see Eng C et al Fahsold R see Luijten M et a/ Devoto M see Vitale E et al Failla P see Borgione E et al Devriendt K see Witters I et al Faivre L see Viot G et a/ de Vries BBA et al. Clinical studies on submicroscopic subtelomeric Faivre L et ail. Acromicric dysplasia: long term outcome and rearrangements: a checklist, 145 evidence of autosomal dominant inheritance, 745 Submicroscopic subtelomeric I qter deletions: a recognisable Fallet-Bianco C see Viot G et al phenotype?: /etter, 175 Fannin TF see McConnell RS ez al Author index Fantes JA see Ungaro P et al Germain DP. Pseudoxanthoma elasticum: evidence for the existence FAP Collaborative Research Group see Michie et al of a pseudogene highly homologous to the ABCC6 gene: letter, Faravelli F see Rossi E et a/ 457 Farinha CM see Amaral MD er al Ghassibeh M see Mustapha M et al Farmer G see Tobias S er al Ghosh SS see Kadakol A et al Fawkner M see Hegde MR ez a/ Giangaspero F see Steigerwald K et al FeingoldJ see Amiel J et a/ Giannotti A ez a/. Coeliac disease in Williams syndrome, 767 see Gabolde M et al Gille JJP see Henneman L et al Fenger K see Bergthorsson JT er al Gimelli G see Cinti R et al Férec C see Mura C et al Girardet A see Lefort G et al see Amaral MD er al Giraudeau F . Use of a set of highly polymorphic minisatellite Ferreira JC see Dar P et ai probes for the identification of cryptic 1p36.3 deletions in a large Ferreira P see Coulter-Mackie MB er a/ collection of patients with idiopathic mental retardation: /etter, Ferrero GB see Vitale E er ai 121 Ferretti F see Giannotti A ez ai Girodon-Boulandet E see Amaral MD et al Ferry B see Veal CD et al Gismondi V Montera M et al FeunteunJ see Chompret A er a/ Steigerwald K et al Fichera M see Borgione E et al Giudice ML Borgione E et al Filocamo M< ez al. A simple non-isotopic method to show pitfalls Glaser T see Vincent A et al during mutation analysis of the glucocerebrosidase gene etter, Glover TW Erickson RP et al e34 Goizet C see Coupry I et al Finidori G see Faivre L et al Goldmuntz E Gong W et al Fink JK see Rainier S et al Goldstein D see Meiser B et al Finkenstedt G see Eller P er ai Golinick HPM Zouboulis CC et al Finnila § ez a/. Increased risk of sensorineural hearing loss and Gong W et a/. Mutation analysis of TBX/ in non-deleted patients migraine in patients with a rare mitochondrial DNA variant with features of DGS/VCFS or isolated cardiovascular defects, $336A>G in tRNA“: lerter, 400 e45 Firatli E see Zhang Y et al Goodman FR see Dundar M et al Fischer A see Edery P et ai Goodship JA see Tompson SWJ er al Fischer H see Haberlandt E er ai Goossens M Amaral MD et al Fitzpatrick J see Grunebaum E er a! e Pingault V er a Flaman J-M see Bougeard G er al Gordon TM see Dundar M et al FlintJ see de Vries BBA et al Gore M< see Hallowell N et al Flinter FA see King K et al Gorry MC see Zhang Y Flintoff KJ ez ai. Submicroscopic deletions of the APC gene: a Gosset P 24 frequent cause of familial adenomatous polyposis that may be Gottlieb S overlooked by conventional mutation scanning: /etter, 129 Goudev A Flint J see de Vries BBA et ai Gout J-P Flothmann K see van Laer L et ai Graham C see Hi Flynn DM < see Kelly AL er a Graham JS Steiger Fodde R see Wagner A et al Greco D see Rossi E et Foger B see Eller P et al Green AJ see Willa é Fokstuen § et a/. Eight years’ experience of direct molecular testing Green PM see King K et a for myotonic dystrophy in Wales: etter, e42 Greenamyre JT see Simon DK er al Presymptomatic testing in myotonic dystrophy: genetic counselling Green AJ see McEntagart M et al approaches : /etter, 846 Gregersen N Mogensen J er al Fontés M see Villard L et ai Gregorek H see Chrzanowska KH et al Foulkes WD see Kasprzak L et a Gregory-Evans CY see Talks SJ et ai Francannet C et a/. Genotype-phenotype correlation in hereditary Tarttelin EE et al multiple exostoses, 430 Gregory-Evans K s« Talks SJ et al Frank TS see Eng C et al ee Tarttelin EE et a Fransen E see van Laer L et a! Griffith AJ. Genetic analysis of the connexin-26 M34T variant: Fransen E er a/. A common ancestor for COCH related etter, e24 cochleovestibular (DFNA9) patients in Belgium and The Griscelli C see Edery P et ai Netherlands bearing the P51S mutation: /erter, 61 GrodenJ see Steigerwald K et al Frébourg T see Bougeard G er al Grénberg H see Liu T et al see Saugier-Veber P et al Gross SJ see Dar P et ai Fricker J-P see Bougeard G er al Grossmann JG see Evans DGR et al Friedman JM see Baser ME er a/ Grumpelt U see Tonnies H et al Friedman TB see Ben-Yosef T er al Grunebaum E ¢7 a/. A missense mutation in the SEDL gene results Fritz B er ai. A supernumerary marker chromosome with a in delayed onset of X linked spondyloepiphyseal dysplasia in a neocentromere derived from 5p14-—spter: /etter, 559 large pedigree: /etter, 409 Fryns J-P see Syrrou M and Fryns J-P Grunfeld J-P see Boutouyrie P er al see Witters I et al Guala A see Maraschio P et al Fu B see O’Shaughnessy KM et a/ Guanti G see Montera M et al Fu M see Sham MH er ai Guilloud-Bataille M see Gabolde M et al Fujimoto S see Muroya K ert a/ Guittard C see Tuffery-Giraud S et al Fukushima Y see Muroya K er al Haaf T see Borck G et al Fusch C see Eggermann T et a/ Haberlandt E ez a/. Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, Gabolde M er a/. The mannose binding lectin gene influences the hypodontia, congenital vertical talus, and deletion of eight severity of chronic liver disease in cystic fibrosis, 310 microsatellite markers in 7q21.1-q21.3: letter, 405 Gaboury L see Kasprzak L er al Haddad BR see Stratakis CA et al Gabreéls FJM see Hiel JAP ez a/ Hagerman PJ see Tassone F et a/ Gabriel BM< see de Lonlay P et al Hagerman RJ see Tassone F er al Gad § et al. Identification of a large rearrangement of the BRCA Hahn AF see Scoggan KA et al gene using colour bar code on combed DNA in an American Hall CM< see Offiah AC et al breast/ovarian cancer family previously studied by direct Hallowell N ez a/. Surveillance or surgery? A description of the sequencing: /etter, 388 factors that influence high risk premenopausal women’s GaffC er ail. Oncology nurse training in cancer genetics: /etter, 691 decisions about prophylactic oophorectomy: /etter, 683 Galesi O see Borgione E et al Hallowell U see Hallowell N et al see Rossi E et al Haltia T see Nopola-Hemmi J et al Gambarara M< see Giannotti A et a/ Hamel BCJ see Bongers EMHF et al Gander R see Eller P er a/ Hampel H see Chadwick RB et al Ganev V see Horvath A et al Hampshire DJ er a/. Kufor-Rakeb syndrome, pailido-pyramidal Gartner S see Amaral MD et al degeneration with supranuclear upgaze paresis and dementia, Gassner I see Janecke AR er al maps to 1p36, 680 Gatti R see Filocamo M et al Hannula K et a/. Do patients with maternal uniparental disomy for Gauthier G see Monnier N er al chromosome 7 have a distinct mild Silver-Russell phenotype?: Gerbitz K-D see Jaksch M er al letter, 273 Germain DP see Boutouyrie P er al Harboe TL see Bergthorsson JT er al 900 Author in Hardt T see Borck G et al Hubert D see Amaral MD HarperJ see Barker K er al Gabolde M et a Harper P. Cyril Clarke, Journal of Medical Genetics, and the Hudgins L see Parisi MA foundation of clinical genetics, 283 Huggare J see Wong FK Harper PS see Fokstuen S er a/ Hughes AE McConnell RS et a see Fokstuen § et al Hughes D er 1 1 an lotype analysis of the CFTR gene see Simpson SA et al in atypically mild cystic f s patients from Northern Ireland Harris JM see Lambert J-C er ai etter, 136 Hart PS see Zhang Y et a/ Hughes HE Baker Hart TC see Zhang Y et al Hugot J-P Pingaul Hartikainen P see Finnila S er a Hulsebos TJM HarveyJ see Eccles D et al Hunt DM Payn Hasegawa T see Muroya K er al Huppi K Sit Hasegawa Y see Muroya K ez al Hurst JA Hasnain SS see Evans DGR er a Hutchin TP Hata A see Yabe | er al hildhoo Hauck Y see Giraudeau F er al Haukkala A see Aktan-Collan K er Hutson A see Ls Havndrup O see Andersen PS er Huygen PLM Heath M< see Brennan P er ai Hwu W-L Heathcote G see Vincent A ef a Hedera P see Rainier S er ai e2 Hegde MR et a/. Microdeletion in the FMR-/ gene: an apparent null Hykin P allele using routine clinical PCR amplification: /erter, 624 Heiman-Patterson T see Rainier S er ai Ibanez A Heinz-Erian P see Haberlandt E Ibi T Sahas! Hendriks Y see Wagner A er a/ Iguchi A Koba Heng CK see Liu Y et a Imamura A Henneman L et a/. Participation in preconceptional carrier couple group Ap screening: characteristics, attitudes, and knowledge of both Imessaouder ne B partners: /etter, 695 Hennies H-C see T6nnies H Inoue I Yabe | Henske EP see Khare L et a Isaia GC Pescarm HenwoodJ et a/. A region of homozygosity within 22q11.2 Ishikawa N Koba associated with congenital heart disease: recessive Isotani H Mut DiGeorge’ velocardiofacial syndrome?: /etter, 533 Ito Y Muroya K Héon E see Vincent A et ail Iwata Y Mur Herman G see Erickson RP er a Iwatsubo T Hermsen KJM< see Zusterzeel PLM er ai Jacobs I Hallowell Hernandez-Calvin FJ see Moreno-Pelayo MA et al Jaeken J de ray Herraiz C see Moreno-Pelayo MA et ai Jaksch M ial transfer RNA mutatior Herrera D see Ehrlich M et a innda dad elc presenting with respiratory chair Hiel JAP er a/. Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS/: letter, e19 1 using hair to screen for Hill S see Stratakis CA et al breast can Hirst-Stadlmann A see Haberlandt E er a Janecke AR Hab Hitchins M see Monk D er ai Janecke AR b-club foot syndrome in sibs of a Hitchins MP ¢7 a/. Silver-Russell syndrome: a dissection of the consanguineous Austrian fa y: letter, 265 genetic aetiology and candidate chromosomal regions: ? , $10 Janka G Ho LW ert ai. Wild type huntingtin reduces the cellular toxicity of Jansen RPM mutant huntingtin in mammalian cell models of Huntington’s Jaruzelska J er $5,X cell line may accentuate the disease, 450 severity of defects in men with AZFc deletion, Hoffman-Radvanyi H see Amiel J e¢ a 798 H6ég A see Kytéla S et al Javed AA Dar P Hofstra R see Wagner A et al Jedrzejczak P Hoganson GE see Tahmaz FE Jeffery S Hokezu Y see Yabe I et al Jozwiak S Holder SE see Boardman JP er ai Johnson CK Holland AJ see Whittington JE er a Johnson S$ Holloway S see Dundar M er a Johns DR Holmberg E see Liu T et a/ Johnston H I Holmberg C see Hannula K er a Joly G Megarbané Holmes A see MacDermot KD Jonasson JG ee MacDermot KD et al Jones AB Homfray T see de Vries BBA Jones KJ ng phenotype of laminin a2 chain Hong § see Liu Y et a/ merosin) abnormalities: case series and review: reviez , 649 Hopwood P ¢r a/. Risk perception and cancer worry: an exploratory Jones MC ickson study of the impact of genetic risk counselling in women with a Jonveaux P Bourdot family history of breast cancer: /etter, 139 sougeard G Horn D er a/. Anauxetic dysplasia, a spondylometaepiphyseal Jouannet P s dysplasia with extreme dwarfism: /etter, 262 Jouannic J-M Horvath A er al. High frequency of the ApoB-100 R3500Q mutation Jouk P-S see Pingaul in Bulgarian hypercholesterolaemic subjects: /etter, 536 Journel H Loniay I Horvath R see Jaksch M et al see Giraudeau F 1 Houlston R see Barker K er a/ Judmaier W Haberlan Houlston RS see Tomlinson IPM er al Jung M see Vanita et a Houseman M< see van Laer L er a/ Houseman MJ see Kelsell DP er a/ Kadakol A er a raction of coding region mutations and the Houseman MjJ ¢: a/. Genetic analysis of the connexin-26 M34T abnormality of the UGTIA1 gene causes variant: identification of genotype M34T/M34T segregating with of unconjugated hyperbilirubinaemia and may mild-moderate non-syndromic sensorineural hearing loss, 20 lead to neonatal Kernicterus t ter, 244 Howell A see Evans DGR et a/ Kaariadinen H see Aktan-Collan K eza l Howell RT see Baker L et a/ Kagawa S see Kanayama H-O et a Howell A see Hopwood P et al Kaji M see Yorifuji T et a HrafnkelssonJ ¢7 a/. Familial non-medullary thyroid cancer in Kalache KD ¢ a/. Laryngeal atresia, encephalocele, and limb Iceland: /etter, 189 deformities (LEL): a possible new syndrome: letter, 420 Hu Y-H see Hwu W-L ez al Kanafani § see Siffroi JP et a Huber C er al. SHOX point mutations in dyschondrosteosis: /etter, Kanavakis E see Amaral MD et al 323 Kanayama H-O er a/. Association of a novel constitutional Sulphate transporter gene mutations in apparently isolated club translocation t(1q;3q) with familial renal cell carcinoma, 165 foot: letter, 191 Karshelova E see Horvath A et al Author index Karsten A see Wong FK et a Kuslich CD Pace JM era l Kasprzak L ez a/. Familial medullary thyroid carcinoma and Kwok JBJ ez a/. Mutations in the glycine receptor a1 subunit prominent corneal nerves associated with the germline V804M GLRAI ne in hereditary hyperekplexia pedigrees: evidence and V778I mutations on the same allele of RET: letter, 784 for non-p rance of mutation Y279C: letter, e17 Kattner E see Fritz B er al Kyt6la S 1 effect in multiple endocrine neoplasia type 1 Kawai M see Yorifuji T 1 MEN 1) in Finland: /erter, 185 Kawamura N see Kobayashi I et a Kayserili H er a/. Molecular Labelle V microphthalmia wit! “a Lacombe I Prenat Kedra D see Kanayama H-O ez Keitzer R rénnies H « Kelly AL eza l. Classification ar Lafferty A I ta haemochromatosis: a st LaFranchi S Be K and LaFranchi S molecular analysis « Lagana C Pri M and Lagana ¢ Kelly B McConnell RS Lakhoo K Boardman JP er a Kelly DA see Kelly Al Lalloo F Hop dPera Kelsell DP Houseman Laloux B Boutouvrie P et a ee Rickard S eta Lam C-W ez Homoplasmic 3316G—A in the ND1 gene of the Kelsell DP er a/. Reply n hondr rent pathogenic mutation or a neutral Kemperman MH see Franse Kenneson A see Hegde MR ambert J-(€ polymorphism in the presenilin 1 Kentala A n in increased risk of developing KereJ \lzheimer’s disease and an increased Af load in brain, 353 é Nopola- mi ambiris N Wong FK er a amireau T Kerr B see Watson P et a arsen LA Kerstjens-Frederikse WS arson O Khare L et a/. A novel miss -arsson C protein homology Kytola S$ Kida tuHb erosee usY abs e a tif WFo ng ‘ \FX K I Kikuchi S see Komeichi K aubenberger |] Kili¢ G see Kayserili H ez aunonen \ Killian A see Bougeard G « aurent J Kim J see Siwarski D « aurent § Kim SC see Mahavni avinha J Kindermans C see de .e Bail B Bourhis C King K er a/. Hair root testing: /erter, e20 echleitner M Ledbetter DH King MD McEntagart M er Le Deist F Kirches E ez a/. Heterogeneo Lee DD DNA polymorphism in h Lee Y-A mitochondrial disorders, Leek JP s Kirchhoff M er a/. High resolution comparative Lees M ta hybridisation in clinical cytogenetics, 740 Lefebvre S 1ugier-Veber tal Kirov S see Horvath A et a Lefort G ytogenetic and molecular study of a jumping Kirste G see Bender BL ranslocation in a baby with Dandy-Walker malformation: /etter, Kiviluoto T see Avizienyte E et ai 67 Kjeldsen K see Andersen PS er Le Gac G Mura C eta Klausen § see Bergthorsson JI Legeai-Mallet L Francannet (¢ Klein ML see Tarttelin EE er Legius E Witt Kleinle S see Jaksch M er a Lehtovirta M Kleopa KA see Rainier S et a Leisti J Kytoél Klersy C see Clementi R et a Le Lorc’h M Mégarbané A er Klopstock T see Jaksch M er a Lemaire F Fransen E eta Knight SJL see de Vries BBA er a Le Merrer M ee de Vries BBA et al Faivre I Knoers NVAM see Bongers EMHF er a Kobayashi I er a/. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, Hube ( enteropathy, X linked syndrome (IPEX): etter, 874 Lemmon H Kobayashi K see Hwu W-L er a/ Lemort N see Kobayashi I er a Lemyre E non-Robertsonian dicentric chromosomes: Koenig B see Bourdon V er al four nev ses and ar eview: /etter, 76 Koillinen H see Wong FK et ai Lenaerts C ide Meta Komeichi K ez a/. Twenty CAG repeats are sufficient to cause the Lench NJ Henwood J et a/ SCA6 phenotype: /erter, e38 Lendon C ; Kondo N see Imamura A et a/ Leppig KA Kooyman MAP see Bongers EMHF er a Lerone M i ‘ Korcz A see Jaruzelska J et a Leroy A nlay P eta Kordich JJ see Steigerwald K er al Lespinasse J s lozier-Blanchet CD et al Korner C see de Lonlay P er ai Levin A nt ta Kotecki M see Jaruzelska J et a/ LévNy see V iLeta Kotzot D see Rothlisberger B er a Li Y ez ai. Evaluation of the ELOVL4 gene in families with retinitis Kotzot D. Complex and segmental uniparental disomy (UPD pigmentosa linked to the RP25 locus: letter, 478 review and lessons from rare chromosomal complements: revie Lidove O see Boutouyrie P et a/ 497 Lidral AC see Erickson RP et al Kotzot D er al. Maternal uniparental isodisomy 11q13-—qter in a Liechti-Gallati S see Jaksch M et al dysmorphic and mentally retarded female with partial trisomy Ligtenberg M see Hiel JAP er a/ mosaicism 11q13-—qter : /erter, 876 LimacheJr-M see Bougeard G et ai } Kpebe A see Villard L et a/ Lindblom U see Liu T et al Krajewska-Walasek M see Chrzanowska KH Linder-Aronson § see Wong FK et al Krause G see Kirches E et al Lindhout D see Wagner A et a Kreczy A see Janecke AR et ai Linnemann K see Eggermann T et al Kretz M see de Lonlay P er a/ Lipsanen-Nyman M< see Hannula K et a/ Kroos MA see Ausems MGEM ez ai Liu HX et ai. Interstitial deletion of 3p22.2-p24.2: the first reported KudohJ see Ben-Yosef T ez al case: /etter, 349 Kuismanen § see Liu T er al Liu T et a/. Screening families with endometrial and colorectal Kumaramanickavel G see Dollfus H er al cancers for germline mutations: /etter, e29 Kunze J see Horn D et al Liu Y et a/. Fibrinogen genotypes (a and f§) are associated with Kuroki Y see Kanayama H-O er al plasma fibrinogen levels in Chinese, e30 Author index Lochmuller H see Jaksch M er al Martinez A see Barker K LéfflerJ see Haberlandt E er a/ Mason §S see Veal CD er a Loiseau HA see Giraudeau F er al Mastella G see Castellani ( Loiselet J see Mustapha M et al Masturzo B see Kalache KD Longy M< see Bougeard G er al Mathieu M see Huber (¢ Lopes AI see Seixas S et al Matsell D see Rupar CA er a Lopes B see Amaral MD er a/ Matsuo N see Ogata T er Lorda-Sanchez I er a/. Does Bardet-Bied! syndrome have a Mattei MG see Giraudeau | characteristic face?: /etter,e14 Mattei M-G see Mign« Losekoot M see Maat-Kievit A et a/ Matthijs G see de Lonlay Lossie AC er a/. Distinct phenotypes distinguish the molecular Maw M< see Dollfus H classes of Angelman syndrome, 834 Mawrin C see Kirches I Louis DN see Blakley P er ai Maxwell M Ho LW Love DR see Hegde MR et al Mazzotti R see Filocamo Low PS see Liu Y et a/ MeckJM see Stratal Lowenheim M< see Kadakol A er a! Mecklin J-P see Aktan-( Lowy AM < see Steigerwald K et al Meek JE Chadwick RB Ludman MD see Coulter-Mackie MB er al Mégarbaneé A Must Lui VCH see Sham MH et ai Meégarbané A er a/. Pu ymy including the TWIST, Lui W-O see Kanayama H-O er a! HOXA, and GLI3 g Luijten M ez a/. Limited contribution of interchromosomal gene Meijers-Heijboer EJ conversion to NF/ gene mutation: /erter, 481 Meiser B er a/. Cultural *r genetics: setting a research Lunardi J see Monnier N et a/ agenda wv, 425 Lundgren T see Zhang Y et al Meisler MH e Reid I Lundsteen C see Kirchhoff M er a/ Melaragno MI see Nada Lunt PW see Kelly AL et a/ Mercier A-Y Mura ¢ Lyon G see Imessaoudene B er a/ Meredith L see Fokstuen Lyonnet S see Amiel J and Lyonnet S Mergenthaler S see Albr see Bahuau M er al Eggermann T et a see Edery P et al Michael M see Kirches E see Imessaoudene B er al Michatkiewicz J see Chrzanowska KH eta i see Viot G et al Michie S Predictive genetic testing in children and adults: a study of emotional ir act, 519 Maat-Kievit AA see van den Boer-van den Berg HM and Maat-Kievit Mieli-Vergani G see Kelly 7 Mignon-Ravix C lly inherited duptl ication of the Maat-Kievit A er a/. New problems in testing for Huntington’s possible imprinted 14q gi letter, 343 disease: the issue of intermediate and reduced penetrance alleles: Mikelsaar RV e Mosaic termi q13.33:) in a girl with letter, e12 seizures and mental ret MacArdle B see Rickard S et a/ Miners AH MacDerm MacCollin M see Blakley P er a/ see MacDermot KD McConnell RS er a/. Autosomal dominant polycystic kidney Miosczka H disease unlinked to the PKD/ and PKD2 loci presenting as Mischung C s familial cerebral aneurysm: /etter, 238 Missirian C MacDermot KD ¢ a/. Anderson-Fabry disease: clinical Mitchell EA manifestations and impact of disease in a cohort of 60 obligate Moerman P carrier females: /etter, 769 Mogensen J Anderson-Fabry disease: clinical manifestations and impact of Mogensen J 1 application of linkage analysis in disease in a cohort of 98 hemizygous males, 750 genetic diagnc ypertrophic cardiomyopathy McDonald M< see Erickson RP ez al 193 McDonald-McGinn DM see Gong W er a Momoi T Macdonald F see Verma L er a/ Monk D r mosaicism in Silver-Russell syndrome McEntagart M< er a/. Molecular characterisation of a proximal ter, ell chromosome 18q deletion: /erter, 128 Monnier N 0+11.5 kb C>G homozygous splicing McGaughranJ see Hegde MR er al mutation in n, consanguineous CF family: /etter, e4 McGaughran JM see Liu HX er ai Montera M er ai. A silent mutation in exon 14 of the APC gene Is McGuirt WT see Fransen E er ai issociated Ww vith exon skipping in a FAP family tter, 863 MackayJ see Hallowell N er a/ Moolman-Smook JC see Andersen PS et a McKenna WM « see Syrris P er al Moore AT Payne AM MacKenzie JJ see Grunebaum E er a/ Moore GE Hitchins MP McKeown C see de Vries BBA er a/ ¢é Monk Dera McKiernan PJ see Kelly AL er al Morell RJ 3en- Yosef T McKinstry CS see McConnell RS er ai Moreno F see Moreno-Pelay MA et a McKusick VA. Persisting memories of Cyril Clarke in Baltimore, 284 Moreno-Pelayo MA e a/. A cysteine substitution in the zona McQuaid S see McEntagart M er al pellucida domain of a-t ctorin results in autosomal dominant, Mahavni V e7 a/. The androgen receptor and DXS15-134 markers postlingual, progressive, mid frequency hearing loss in a Spanish show a high rate of discordance for germline X chromosome family ,e13 inactivation: /etter, 474 Morgan G see Jones K] Maher ER. 7MG Online: exploiting the potential of electronic see Kwok JB] et a publication and manuscript submission: editorial, 809 Morichon N see Amiel ] Z Maher ER see Verma L et a/ Morra E see Pescarmona GP et Majamaa K see Finnila S er al Morreau H see Wagner A Makitie AA see Aaltonen L-M er ai Morris AG see Payne AM I Malcolm §S see de Vries BBA er al Morris NH see O’Shaughnessy KM er a see Ungaro P et al Morrison N see Tobias S et a Maltby EL see Shannon NL er a/ Morrow BE see Dar P et a Mamada M< see Yorifuji T et a/ Mortemousque B see Coupry I et al Mann DMA see Lambert J-C ez ai Mouridsen HT see Bergthorsson JT et al Mannermaa A see Finnila S er al Mubaidin A see Hampshire DJ er a/ Maraschio P er a/. A novel mutation and novel features in Nijmegen Mueller RF see Houseman MJ breakage syndrome: /etter, 113 ee Hutchin TP et al Marchese C see Montera M et al see Kelsell DP era l Marcos I see Li Y et al see van Laer L et al Mareni C see Montera M et a/ Mugneret F see Mignon-Ravix (¢ Marks JJ see Zhang Y er al Muller T see Haberlandt E Maroteaux P see Faivre L et a/ see Janecke AR et al Marsh DJ see Fackenthal JD er a/ Muller-HéckerJ see Jaksch M era / Marteau TM see Michie S et a/ Munnich A see Amiel J et a Martin C see Bougeard G er al see Bahuau M et al Martin DM er a/. Ocular malformations, postaxial polydactyly, and see de Leersnyder H et a delayed intramembranous ossification: a new autosomal see de Lonlay P et al dominant condition: /etter, 547 See Edery P et al é Luthor inde \ é Faivre L ¢ Ohnishi A see Francannet C Ohno K Sah e Huber Ce Okano M é HuberC eta i Olafsdottir G e Imessaoudene B ¢ Oliver E Vincent A 1 ee Quintana- oe I Ollikainen V Ni ypola-Hemmi J e Saugier-VebeP re z Olopade OI hal JD eta von Kleist-Retzow ]-¢ Olschewski M rBU eta Mura C er ai. Variation of iron loading expression in ¢ 2R2Y Olschwang§ e7 ™ gheer s f munities unlinked to » STRI1 LKB! homozygous haemochroma tosis probands and 632 Murday V see Barker K Olsen JH MuroiJ see Yorifuji 1 Olveira C Muroya K er al. GATA3 abr Orfanos CE »f HDR syndrome, 374 Orii T In Murray A see Syrris P et a Oriola J Musebeck J s« ' Ponnies H eta Orszagh M Mustapha M « Autosomal 1 Osborn AH H ian MJ in the “yet eeta popu O’Shaughnessy KM Thrombophilic polymorphisms in ind report of two nov | equency of the functional 98C>T gene, e36 oprotein IIIa: etter, 775 Mutirangura A Ostman-Smith I Myllyluoma B Ostrander E Eng MyringJ see Foks Osumi T Imat Fokstuen S ¢ Ouvrier RA Overhauser J Nadal M er ai i Ozkul Y D with Down synd Ozyazgan I etter, 73 Nagai T see Muroya K er Pace JM I 1 of one intra-chain disulphide bond in the Nagamiatsu K see Yabe | yropeptide of the prow] (I) chain of type I pro- Nakahata T see Yorifuji 1 w assemblblyy and secretion of overmodified, but Nakahori Y see Kanayam: 1 H-Oe r mers and results in mild osteogenesis Nanba E see Yamamoto 1 mnertects, 443 Nance WE see Ben-Yosef 1 Pacheco P Am MD Nanko §S see Ross NI J Padovani P H r Naroda T see Kanayai 1 H-O « Page DC Ja € iJ Nathanson KL En o ( Pages-Berhouet S Navas ( Moreno -Pe o MA « Pages S Cl Naz S sei sR en teaat | Pagnamenta A Neitzel H Tonnies H eta Pandya A Ben- Nelson CC see Erickson RP Pang C-P Nelson R see Scoggan KA Pannier E Neri G Ro ssi E et a Parenti G Neu N see Janecke AR Parent P Neumann HPH se Bend “T Neumann L see Tonn Parisi MPTAE N m pepocstirtiuvme acnasde s evoofl uBtaionnn ayofa np-hReinloetyy-pRiucv aflicnadbinag s Neumann LM se Newton V see Hutchin IP. Parker M s Nicholls AC er al. Homoz\ Parsons [JM COLIA2 gene yields unct 10nal EDS/OI clinical phen« etter, Paskaleva I Nicholls RD see Lossie AC Passarge E Niebuhr A see Bergthorsson J] Pastore G Niebuhr E see Bergthorsson JI Paterson AD Nielsen KV see Bergthorsson JT ez PatschC leJmR I Niemann TH see Chadwick RB « Nieminen P see Pirinen S et ai Pavia C Niermeijer M see Maat-Kievit . Pawelczyk L Niermeijer MF see de Vries Payne AM et ing oy frequency of mutations in the retinal ée Duisterhof M et a GUCY2D gene in patients with dominant e Wagner A et al tter, 611 Ninomiya H see Yamamoto Pearson P Nishimura G see Ogata T et Pedespan D Nishizawa M< see Yabe | et Pelet A Bahuau Nitowsky HM see Dar P er a Pellestor F Nogueira P see Amaral MD Peltomaki P Nolet S see Kasprzak L et a Penet C see Hut Nopola-Hemmi J ez a/. A domina t gene for devek ypmental dyslexia Penque D s¢ I on chromosome 3, 658 Pérez-Frias J s ral MD. Nord B see Kyt6la S et ai Perfumo C Mainardi P et a North KN se Jones K] el ee Rossi E 2 Northrup H see Khare L et « Perrin-Schmitt F Dollfus H et al Notarangelo LD see Clementi R er a Pescarmona GP Haptoglobin genotype as a risk factor for Nothwang H-G see Borck G et a ostmenopausal SteOporosis: fe tter, 636 Nur-E-Kamal M see Bayoumi R er Peters H see Hegde MR et al Nurnberg G see Bayoumi R et a Peters WHM Zust erzeel PLM et al Nurnberg P see Luijten M et a Petit C sec Mustapha M et a Philippe C sec Bourdon V et Ochs HD see Kobayashi I et ai Piaggio F Montera M OckengaJ er a/. Low prevalence of SPINK] gene mutations in adult Piccini F Rossi E patients with chronic idiopathic pancreatitis: /etter, 243 Pickard C ;s sh:- nwood he a Oda T see Yabe I et al Pierluigi M s Truti i Mainardi P Odent S see Huber C er al Rossi E Oei PTSP see Liu HX et al Pignatti P see C astellaniC Offiah AC ez a/. Sponastrime dysplasia: presentation in infancy Pigott RW see Turnr penny P D ail Pigott RW 889 Pin I see Monnier N Ogata T see Boucher CA et ai Pingault V e a A heterozygous endothelin 3 mutation in see Muroya K et al Waardenbur z-Hirschsprung disease: is there a dosage effect of Ogata T et al. SHOX haploinsufficiency and overdosage: impact of EDN3/EDN R B gene mutations on neurocristopathy gonadal function status: revleU, phenotypes? er, 205 Oguzkaya F see Dundar M et al Pinto M see Gad S Author index Pirinen § er ai. Recessively inherited lower incisor hypodontia: /etter, Rodrigues F see Kelly AL era $51 Roelofs HMJ see Zusterzee! PLM era / Pirinen S see Hannula K er a/ RoggenbuckJ see Ehrlich M et a Plass C see Costello JF and Plass C Roifman CM see Grunebaum E et al Polak M< see Faivre L et al Romana SP see Meéegarb A etal Pongratz D see Jaksch M er al Romano C see Borgione } Pope FM< see Nicholls AC er a/ see Rossi E et a Porter TR see Verma L et al Romero L see Moreno-Pelayo MA et Pouliquen JC see Faivre L er al Roos RAC see Duisterhof M et Powis SH see Veal CD et al Ropers H-H see Borck G er Prasad SD see van Laer L et al Rose H see Kirchhoff M Preece M see Monk D et al Preece MA see Hitchins MP et al veral PARI genes and part of the Price SJ see Blair E er al } 2/Xq21. 3 region of homology in a Prieur M see Mégarbané A et ai 16,X,t 2) male with schizophrenia: /erter, 710 Priolo M see Cinti R et al Rossi E ric rearrangements in subjects with Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic mental retardation associated with dysmorphism and congenital classification: review, 579 maliormation € Prior TW see Chadwick RB er al Roth S Aaltonen Priston M see Vincent A et al Rothlisberger B Pritchard M see Nadal M er al R6éthlisberger B e a irker chromosome (1) of Pyatt RE see Chadwick RB et al paternal ori; materr | ntal disomy | ina developn y delayed child : letter, 885 Quan F see Tahmaz FE et a/ Rétig A Juintana-Murc ta Quarrell OWJ see de Vries BBA er al von Kleist- 7 see Shannon NL et al Roubertie A s raud Seta Quillet R see Dollfus H er al Roumelioti KN Au ms MGEM er Quintana-Murci L et a/. Mitochondrial DNA inheritance in Rowland J van Laer I patients with deleted mtDNA: etter, e28 Rowland JS ez a/. A comparison of methods for gene dosage analysis in HMSN type 1, 90 Raclin V see Amiel J et a/ Royer G Imessaoudene Radhakrishna U see Ben-Yosef T er al Roylance R n Raguenes O see Mura C et a/ Rubinsztein DC see Ho LW Ragusa A see Borgione E et al ¢ McConnell I ta see Rossi E et al Reid I a Rai M see Mustapha M er a/ e Taylor AE et« Rainier §S et a/. Hereditary spastic paraplegia linked to chromosome Ruiz-Perez VL s npson SW] 14q11-q21: reduction of the SPG3 locus interval from 3.3 to 2.7 Ruiz-Ponte C I sp1822Val variant of the APC gene is a cM: letter, e39 common polymorphism without clinical implications er, e33 Rajpar MH see Verma L er a/ Rumeur S$ Huber t Rajput K see Rickard S er a/ Rupar CA \ G339R mutation in the CTNS gene is a common Ramsden § see Watson P et al cause of nephropathic cystinosis in the south western Ontario Ranke MB see Eggermann T er a/ Amish Mennonite population: /etter, 615 Ranta R see Wong FK er a/ Rupar C Rupar CA Raskin S see Kwok JBJ er al Rupprecht E Horn D Ratner N see Steigerwald K er al Russell K Faivre L et Rautio J see Wong FK er al Russo S see Monk D Ravazzolo R see Cinti R et a/ Rustin P Quintana-Murc Ravine D see Fokstuen S et a/ von Kleist-Retzow J-( Ray PN see Grunebaum E er al Reardon W see Houseman MJ er ai Saar K see Bay see Kelsell DP et al Saha N see Liu Y et a Reardon W ¢1 ai. A novel germline mutation of the PTEN gene in a Sahashi K see Sahash patient with macrocephaly, ventricular dilatation, and features of Sahashi K Functional characterisation of mitochondrial VATER association, 820 tRNA‘ mutation (5 G-—A) associated with familial chronic Rees DRZ see Baker L et al progressive external oph thalmoplegia, 703 Rees MI see Baker L er al Saheki T see Hwu W-L Regan R see de Vries BBA et a/ Sakiyama Y see Kobayashi I Regis S see Filocamo M et a/ Salahshor§ S see Liu T et Reid E ez a/. The spastic paraplegia SPG10 locus: narrowing of Salazar-De-Sousa J see Seixas S et al critical region and exclusion of sodium channel gene SCN8A as Salem N see Mustapha M a candidate: /etter, 65 Salgueiro C see Seixas S Reis A see Bayoumi R et a/ Salmela PI see Kytola S er see Chrzanowska KH et a/ Salovaara R see Avizienyte | see Maraschio P er al Sam §S see Tahmaz FE et a see Vanita et al Samaras L see Mégarbané A et Renvert S see Zhang Y et al Sancandi M< see Pingault V ez a Resta N see Montera M er a/ Sanders L see Mahavni V et a Reuser AJJ see Ausems MGEM er al Sandkuijl LA see Ausems MGEM et al Reynolds J see Ungaro P er al Santoro IM see Steigerwald K er a Riazuddin S$ see Ben-Yosef T er a/ Santra A see Kadakol A see Ben-Yosef T er al Sanz R see Lorda-Sanchez I er Richards FM see Verma L et al Sappal BS see Kadakol A Richards M see Hallowell N er a/ Sarda P see de Lonlay P Richards SK see Chadwick RB er al see Lefort G et al Richardson A-L see Fackenthal JD er al Sargent CA see Boucher CA Rickard S see Houseman MJ er al see Ross NL] et al Rickard §S er a/. Recurrent mutations in the deafness gene G7B2 Sarhadi V see Vanita et a connexin 26) in British Asian families: /erter, 530 Sasaki H Komeichi K Ricordy R see Maraschio P er al ee Yabe I et a Riegel M see Kotzot D er al SaudubraJyM see de Lonlay P et al Rigby AS see Shannon NL et al Saugier-Veber P ez a/. Detection of heterozygous SMN/ deletions in Rihkanen H see Aaltonen L-M er a/ SMA families using a simple fluorescent multiplex PCR method: RipJ see Coulter-Mackie MB er a/ letter, 240 Rivera-Fillat F see Kasprzak L er al Sauper T see Eller P et ai Road F see Hallowell N er al Savoldi G see Clementi R et a Roberts E see Hampshire DJ er a/ Savov A see Horvath A et a see Henwood J et al Scharfe C see Jaksch M et ai Robertson NJ see Boardman JP er ai Scheuner MT see Gad S et a Robinson BG see Fackenthal JD er a/ Schinzel A see Kotzot D er a RochaJ see Seixas S et al see Mikelsaar RV et al Rodeck CH see Kalache KD er ai see R6thlisberger B et al