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Preview The American Journal of Human Genetics 2002: Vol 70 Table of Contents

Contents of Volume 70 January 2002 i This Month in the Journal Kathryn Beauregard ASHG Commentary Response to Allegations against James V. Neel in Darkness in El Dorado, by Patrick Tierney American Society of Human Genetics Articles A Mutation in the LDL Receptor—Related Protein 5 Gene Results in the Autosomal Dominant High-Bone-Mass Trait Randall D. Little, John P. Carulli, Richard G. Del Mastro, Josée Dupuis, Mark Osborne, Colleen Folz, Susan P. Manning, Pamela M. Swain, Shan-Chuan Zhao, Brenda Eustace, Michelle M. Lappe, Lia Spitzer, Susan Zweier, Karen Braunschweiger, Youssef Benchekroun, Xintong Hu, Ronald Adair, Linda Chee, Michael G. FitzGerald, Craig Tulig, Anthony Caruso, Nia Tzellas, Alicia Bawa, Barbara Franklin, Shannon McGuire, Xavier Nogues, Gordon Gong, Kristina M. Allen, Anthony Anisowicz, Arturo J. Morales, Peter T. Lomedico, Susan M. Recker, Paul Van Eerdewegh, Robert R. Recker, and Mark L. Johnson Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency Andreas Holzinger, Esther M. Maier, Cornelius Biick, Peter U. Mayerhofer, Matthias Kappler, James C. Haworth, Stanley P. Moroz, Hans-Beat Hadorn, J. Evan Sadler, and Adelbert A. Roscher Molecular and Clinical Characteristics of MSH6 Variants: An Analysis of 25 Index Carriers of a Germline Variant Maran J. W. Berends, Ying Wu, Rolf H. Sijmons, Rob G. J. Mensink, Tineke van der Sluis, Jannet M. Hordijk-Hos, Elisabeth G. E. de Vries, Harry Hollema, Arend Karrenbeld, Charles H. C. M. Buys, Ate G. J. van der Zee, Robert M. W. Hofstra, and Jan H. Kleibeuker C>U Editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type I! Transcript and apobec-1, the Catalytic Subunit of the Apolipoprotein B mRNA-Editing Enzyme Debnath Mukhopadhyay, Shrikant Anant, Robert M. Lee, Susan Kennedy, David Viskochil, and Nicholas O. Davidson Genomewide Linkage Analysis of Celiac Disease in Finnish Families Jianjun Liu, Suh-Hang Juo, Paivi Holopainen, Joseph Terwilliger, Xiaomei Tong, Adina Grunn, Miguel Brito, Peter Green, Kirsi Mustalahti, Markku Maki, T. Conrad Gilliam, and Jukka Partanen Evidence for a Language Quantitative Trait Locus on Chromosome 7q in Multiplex Autism Families Maricela Alarcon, Rita M. Cantor, Jianjun Liu, T. Conrad Gilliam, Autism Genetic Resource Exchange Consortium, and Daniel H. Geschwind Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study Mary F. Feitosa, Ingrid B. Borecki, Stephen S. Rich, Donna K. Arnett, Phyliss Sholinsky, Richard H. Myers, Mark Leppert, and Michael A. Province Contents of Volume 70 Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22 Jeffrey A. Bailey, Amy M. Yavor, Luigi Viggiano, Doriana Misceo, Juliann E£. Horvath, Nicoletta Archidiacono, Stuart Schwartz, Mariano Rocchi, and Evan E. Eichler The Map Problem: A Comparison of Genetic and Sequence-Based Physical Maps Andrew T. DeWan, Antonio R. Parrado, Tara C. Matise, and Suzanne M. Leal Nucleotide Diversity and Haplotype Structure of the Human Angiotensinogen Gene in Two Populations Toshiaki Nakajima, Lynn B. Jorde, Tomoaki Ishigami, Satoshi Umemura, Mitsuru Emi, Jean-Marc Lalouel, and Ituro Inoue A Unified Stepwise Regression Procedure for Evaluating the Relative Effects of Polymorphisms within a Gene Using Case/Control or Family Data: Application to HLA in Type 1 Diabetes Heather J. Cordell and David G. Clayton Likelihood Formulation of Parent-of-Origin Effects on Segregation Analysis, Including Ascertainment Fatemeh Haghighi and Susan E. Hodge Bayesian Haplotype Inference for Multiple Linked Single-Nucleotide Polymorphisms Tianhua Niu, Zhaohui $. Qin, Xiping Xu, and Jun S. Liu Relationship Inference from Trios of Individuals, in the Presence of Typing Error Solveig K. Sieberts, Ellen M. Wijsman, and Elizabeth A. Thompson Statistics for Nonparametric Linkage Analysis of X-Linked Traits in General Pedigrees Kyunghee K. Song, Eleanor Feingold, and Daniel E. Weeks The Dual Origin and Siberian Affinities of Native American Y Chromosomes Jeffrey T. Lell, Rem |. Sukernik, Yelena B. Starikovskaya, Bing Su, Li Jin, Theodore G. Schurr, Peter A. Underhill, and Douglas C. Wallace Molecular Analysis of the 6-Globin Gene Cluster in the Niokholo Mandenka Population Reveals a Recent Origin of the 6° Senegal Mutation Mathias Currat, Guy Trabuchet, David Rees, Pascale Perrin, Rosalind M. Harding, John B. Clegg, André Langaney, and Laurent Excoffier Reports Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively Debra A. Thompson, Christina L. McHenry, Yun Li, Julia E. Richards, Mohammad |. Othman, Eberhard Schwinger, Douglas Vollrath, Samuel G. Jacobson, and Andreas Gal Gene-Gene Interaction in Asthma: /L4RA and /L13 in a Dutch Population with Asthma Timothy D. Howard, Gerard H. Koppelman, Jianfeng Xu, Siqun L. Zheng, Dirkje S. Postma, Deborah A. Meyers, and Eugene R. Bleecker Chromosome-12 Mapping of Late-Onset Alzheimer Disease among Caribbean Hispanics R. Mayeux, J. H. Lee, S$. N. Romas, D. Mayo, V. Santana, J. Williamson, A. Ciappa, H. Z. Rondon, P. Estevez, R. Lantigua, M. Medrano, M. Torres, Y. Stern, B. Tycko, and J. A. Knowles Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies Valerie A. Street, Jeff D. Goldy, Alana $. Golden, Bruce L Tempel, Thomas D. Bird, and Phillip F. Chance Contents of Volume 70 251 A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, Francois Salachas, Fran¢gois Gros-Louis, Ana Amélia Simdes Lopes, Veronique Mayeux-Portas, Robert H. Brown, Jr., Vincent Meininger, William Camu, and Guy A. Rouleau Can a Place of Origin of the Main Cystic Fibrosis Mutations Be Identified? Eva Mateu, Francesc Calafell, Maria Dolors Ramos, Teresa Casals, and Jaume Bertranpetit Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny Ornella Semino, A. Silvana Santachiara-Benerecetti, Francesco Falaschi, L. Luca Cavalli-Sforza, and Peter A. Underhill A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes Michel van Geel, Evan E. Eichler, Amy F. Beck, Zhihong Shan, Thomas Haaf, Silvere M. van der Maarel, Rune R. Frants, and Pieter J. de Jong Book Review Genetics and Criminal Behavior. Edited by David Wasserman and Robert Wachbroit Reviewed by David T. Lykken Announcements Employment Opportunities; Conference Errata Detection of the Signature of Natural Selection in Humans: Evidence from the Duffy Blood Group Locus Hamblin and Di Rienzo (May 2000 [66:1669-1679]) Genomewide Search for Type 2 Diabetes Susceptibility Genes in Four American Populations Ehm et al. June 2000 [66:1871-1881]) The Genetic Dissection of Complex Traits in a Founder Population Ober et al. (November 2001 [69:1068-1079]) February 2002 i This Month in the Journal Kathryn Beauregard 2001 ASHG Presidential Address On Black Boxes and Storytellers: Lessons Learned in Human Genetics Huntington F. Willard 2001 William Allan Award Address Introductory Speech for Charles J. Epstein Arno G. Motulsky Contents of Volume 70 From Down Syndrome to the “Human” in “Human Genetics” Charles J. Epstein 2001 ASHG Award for Excellence in Education Introductory Speech for Charles Scriver David Valle ... And Know the Place for the First Time Charles R. Scriver Articles Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse Hanlin Gao, Rose-Mary N. Boustany, Janice A. Espinola, Susan L. Cotman, Lakshmi Srinidhi, Kristen Auger Antonellis, Tammy Gillis, Xuebin Qin, Shumei Liu, Leah R. Donahue, Roderick T. Bronson, Jerry R. Faust, Derek Stout, Jonathan L. Haines, Terry J. Lerner, and Marcy E. MacDonald Inherited Interleukin-12 Deficiency: /L12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds Capucine Picard, Claire Fieschi, Frédéric Altare, Suliman Al-Jumaah, Sami Al-Hajjar, Jacqueline Feinberg, Stéphanie Dupuis, Claire Soudais, Ibrahim Zaid Al-Mohsen, Emmanuelle Génin, David Lammas, Dinakantha S$. Kumararatne, Tony Leclerc, Arash Rafii, Husn Frayha, Belinda Murugasu, Lee Bee Wah, Raja Sinniah, Michael Loubser, Emi Okamoto, Abdulaziz Al-Ghonaium, Haysam Tufenkeji, Laurent Abel, and Jean-Laurent Casanova A Genomewide Search for Type 2 Diabetes—Susceptibility Genes in Indigenous Australians Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M. Walker, ' Paul K. Lovelock, ' David Good, Heather Tate, Denise Watego, Maureen Marczak, Noel Hayman, and Joanne T. E. Shaw Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy Markus Feldk6tter, Verena Schwarzer, Radu Wirth, Thomas F. Wienker, and Brunhilde Wirth Complex Signatures of Natural Selection at the Duffy Blood Group Locus Martha T. Hamblin, Emma E. Thompson, and Anna Di Rienzo A Genomewide Scan Identifies Two Novel Loci Involved in Specific Language Impairment The SLI Consortium A Statistical Method for Identification of Polymorphisms That Explain a Linkage Result Lei Sun, Nancy J. Cox, and Mary Sara McPeek A Score-Statistic Approach for the Mapping of Quantitative-Trait Loci with Sibships of Arbitrary Size K. Wang and J. Huang Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous Daniel J. Schaid, Charles M. Rowland, David E. Tines, Robert M. Jacobson, and Gregory A. Poland Gdnf Haploinsufficiency Causes Hirschsprung-Like Intestinal Obstruction and Early-Onset Lethality in Mice Liya Shen, José G. Pichel, Thomas Mayeli, Hannu Sariola, Bai Lu, and Heiner Westphal Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene Andrea L. Vincent, Gail Billingsley, Yvonne Buys, Alex V. Levin, Megan Priston, Graham Trope, Donna Williams- Lyn, and Elise Héon Contents of Volume 70 461 A Perspective on Epistasis: Limits of Models Displaying No Main Effect Robert Culverhouse, Brian K. Suarez, Jennifer Lin, and Theodore Reich Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis Shih-hsin Kan, Navaratnam Elanko, David Johnson, Laura Cornejo-Roldan, Jackie Cook, Elsa W. Reich, Susan Tomkins, Alain Verloes, Stephen R. F. Twigg, Sahan Rannan-Eliya, Donna M. McDonald-McGinn, Elaine H. Zackai, Steven A. Wall, Maximilian Muenke, and Andrew O. M. Wilkie Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data Julie A. Douglas, Andrew D. Skol, and Michael Boehnke Detection and Integration of Genotyping Errors in Statistical Genetics Eric Sobel, Jeanette C. Papp, and Kenneth Lange Reports Genomewide Search for Type 2 Diabetes Mellitus Susceptibility Loci in Finnish Families: The Botnia Study C. M. Lindgren, M. M. Mahtani, E. Widén, M. I. McCarthy, M. J. Daly, A. Kirby, M. P. Reeve, L. Kruglyak, A. Parker, J. Meyer, P. Almgren, M. Lehto, T. Kanninen, T. Tuomi, L. C. Groop, and E. S. Lander Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23 David A. Good, Frances Busfield, Barbara H. Fletcher, David L. Duffy, Janine B. Kesting, John Andersen, and Joanne T. E. Shaw Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs Michael C. Neale, Benjamin M. Neale, and Patrick F. Sullivan Truncation of the GABA,-Receptor y2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wailace, Michaella C. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, and Steven Petrou The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth E. Williams, and Sara E. Mole Evidence for Linkage of Stature to Chromosome 3p26 in a Large U.K. Family Data Set Ascertained for Type 2 Diabetes Steven Wiltshire, Timothy M. Frayling, Andrew T. Hattersley, Graham A. Hitman, Mark Walker, Jonathan C. Levy, Stephen O’Rahilly, Christopher J. Groves, Stephan Menzel, Lon R. Cardon, and Mark |. McCarthy A 117-kb Microdeletion Removing HOXD9-HOXD13 and EVX2 Causes Synpolydactyly Frances R. Goodman, Frank Majewski, Amanda L. Collins, and Peter J. Scambler Letters to the Editor HLODs Remain Powerful Tools for Detection of Linkage in the Presence of Genetic Heterogeneity Susan E. Hodge, Veronica J. Vieland, and David A. Greenberg Reply to Hodge et al. Alice S. Whittemore and Jerry Halpern Contents of Volume 70 Announcements Employment Opportunities; Fellowship; Conference; Call for Abstracts; Awards; Online Analysis Tool; Meeting Erratum Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma Astuti et al. July2001 [69:49-54]) March 2002 i This Month in the Journal Kathryn Beauregard Articles A Quantitative-Trait Locus in the Human Factor XII Gene Influences Both Plasma Factor XII Levels and Susceptibility to Thrombotic Disease José Manuel Soria, Laura Almasy, Juan Carlos Souto, Delphine Bacq, Alfonso Buil, Alexandra Faure, Elisabeth Martinez-Marchan, José Mateo, Montserrat Borrell, William Stone, Mark Lathrop, Jordi Fontcuberta, and John Blangero Bias in Estimates of Quantitative-Trait-Locus Effect in Genome Scans: Demonstration of the Phenomenon and a Method-of-Moments Procedure for Reducing Bias David B. Allison, Jose R. Fernandez, Moonseong Heo, Shankuan Zhu, Carol Etzel, T. Mark Beasley, and Christopher |. Amos Localization of a Gene for Peripheral Arterial Occlusive Disease to Chromosome 1p31 Gudmundur Gudmundsson, Stefan E. Matthiasson, Haukur Arason, Halldor Johannsson, Freyr Runarsson, Hj6rdis Bjarnason, Katrin Helgadottir, Steinthora Thorisdottir, Gudrun Ingadottir, Klaus Lindpaintner, Jesus Sainz, Vilmundur Gudnason, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, and Kari Stefansson Localization of a Susceptibility Gene for Common Forms of Stroke to 5q12 Solveig Gretarsdottir, Sigurlaug Sveinbjérnsdottir, Hjortur H. Jonsson, Finnbogi Jakobsson, Elisabet Einarsdottir, Uggi Agnarsson, Dana Shkolny, Gisli Einarsson, Herdis M. Gudjonsdottir, Einar M. Valdimarsson, Olafur B. Einarsson, Gudmundur Thorgeirsson, Radinka Hadzic, Sif Jonsdottir, Sigridur Th. Reynisdottir, Sigrun M. Bjarnadottir, Thorunn Gudmundsdottir, Gudrun J. Gudlaugsdottir, Ramanjit Gill, Klaus Lindpaintner, Jesus Sainz, Helgi H. Hannesson, Gunnar Th. Sigurdsson, Michael L. Frigge, Augustine Kong, Vilmundur Gudnason, Kari Stefansson, and Jeffrey R. Gulcher Epigenetic Alterations of H19 and LIT1 Distinguish Patients with Beckwith-Wiedemann Syndrome with Cancer and Birth Defects Michael R. DeBaun, Emily L. Niemitz, D. Elizabeth McNeil, Sheri A. Brandenburg, Maxwell P. Lee, and Andrew P. Feinberg Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1 Alison M. Motley, Pedro Brites, Lisya Gerez, Eveline Hogenhout, Janet Haasjes, Rob Benne, Henk F. Tabak, Ronald J. A. Wanders, and Hans R. Waterham Contents of Volume 70 625 Mutation Patterns at Dinucleotide Microsatellite Loci in Humans Qing-Yang Huang, Fu-Hua Xu, Hui Shen, Hong-Yi Deng, Yong-Jun Liu, Yao-Zhong Liu, Jin-Long Li, Robert R. Recker, and Hong-Wen Deng Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese Yong-Gang Yao, Qing-Peng Kong, Hans-Jiirgen Bandelt, Toomas Kivisild, and Ya-Ping Zhang A Susceptibility Locus for Migraine with Aura, on Chromosome 4q24 Maija Wessman, Mikko Kallela, Mari A. Kaunisto, Pia Marttila, Eric Sobel, Jaana Hartiala, Greg Oswell, Suzanne M. Leal, Jeanette C. Papp, Eija Hamdldinen, Petra Broas, Geoffrey Joslyn, liris Hovatta, Tero Hiekkalinna, Jaakko Kaprio, Jiirg Ott, Rita M. Cantor, John-Anker Zwart, Matti Ilmavirta, Hannele Havanka, Markus Farkkila, Leena Peltonen, and Aarno Palotie Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin-Ligase Gene Patrick Frosk, Tracey Weiler, Edward Nylen, Thangirala Sudha, Cheryl R. Greenberg, Kenneth Morgan, T. Mary Fujiwara, and Klaus Wrogemann Extensive Linkage Disequilibrium in Small Human Populations in Eurasia Henrik Kaessmann, Sebastian Zdllner, Anna C. Gustafsson, Victor Wiebe, Maris Laan, Joakim Lundeberg, Mathias Uhlén, and Svante Paabo Fine-Scale Mapping of Disease Loci via Shattered Coalescent Modeling of Genealogies A. P. Morris, J. C. Whittaker, and D. J. Balding Association of Polymorphisms in the Apolipoprotein E Region with Susceptibility to and Progression of Multiple Sclerosis Silke Schmidt, Lisa F. Barcellos, Karen DeSombre, Jacqueline B. Rimmler, Robin R. Lincoln, Patricia Bucher, Ann M. Saunders, Eric Lai, Eden R. Martin, Jeffery M. Vance, Jorge R. Oksenberg, Stephen L. Hauser, Margaret A. Pericak-Vance, and Jonathan L. Haines, for the Multiple Sclerosis Genetics Group A Polymorphism in the Human UGRP7 Gene Promoter That Regulates Transcription Is Associated with an Increased Risk of Asthma Tomoaki Niimi, Mitsuru Munakata, Catherine L. Keck-Waggoner, Nicholas C. Popescu, Roy C. Levitt, Michie Hisada, and Shioko Kimura Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Meriem Tazir, Nadia Kassouri, Pierre Szepetowski, Tarik Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Dijamel Grid, and Nicolas Lévy Ethnic-Difference Markers for Use in Mapping by Admixture Linkage Disequilibrium Heather E. Collins-Schramm, Carolyn M. Phillips, Darwin J. Operario, Jane S. Lee, James L. Weber, Robert L. Hanson, William C. Knowler, Richard Cooper, Hongzhe Li, and Michael F. Seldin Reports Testing for Genetic Linkage in Families by a Variance-Components Approach in the Presence of Genomic Imprinting Sanjay Shete and Christopher |. Amos The Frequent 5,10-Methylenetetrahydrofolate Reductase C677T Polymorphism Is Associated with a Common Haplotype in Whites, Japanese, and Africans Nurit Rosenberg, Mitsuru Murata, Yasuo Ikeda, Ohene Opare-Sem, Ariella Zivelin, Eli Geffen, and Uri Seligsohn Contents of Volume 70 A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX71, Maps to Chromosome 12p13 |. A. Meijer, C. K. Hand, K. K. Grewal, M. G. Stefanelli, E. J. Ives, and G. A. Rouleau A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human Pigmentation Peter A. Kanetsky, Jennifer Swoyer, Saarene Panossian, Robin Holmes, DuPont Guerry, and Timothy R. Rebbeck CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle Elizabeth Goldmuntz, Richard Bamford, Jayaprakash D. Karkera, June dela Cruz, Erich Roessler, and Maximilian Muenke Association between Single-Nucleotide Polymorphisms in Selectin Genes and Immunoglobulin A Nephropathy Takashi Takei, Aritoshi lida, Kosaku Nitta, Toshihiro Tanaka, Yozo Ohnishi, Ryo Yamada, Shiro Maeda, Tatsuhiko Tsunoda, Sachiyo Takeoka, Kyoko Ito, Kazuho Honda, Keiko Uchida, Ken Tsuchiya, Yasushi Suzuki, Tomoaki Fujioka, Takashi Ujiie, Yutaka Nagane, Satoru Miyano, Ichiei Narita, Fumitake Gejyo, Hiroshi Nihei, and Yusuke Makamura Evidence for a Susceptibility Gene for Anorexia Nervosa on Chromosome 1 D. E. Grice, K. A. Halmi, M. M. Fichter, M. Strober, D. B. Woodside, J. T. Treasure, A. S. Kaplan, P. J. Magistretti, D. Goldman, C. M. Bulik, W. H. Kaye, and W. H. Berrettini Evidence of Genetic Interaction between the 8-Globin Complex and Chromosome 8q in the Expression of Fetal Hemoglobin Chad P. Garner, Thanusak Tatu, Steve Best, Lisa Creary, and Swee Lay Thein A Genomewide Linkage Screen for Relative Hand Skill in Sibling Pairs Clyde Francks, Simon E. Fisher, |. Laurence MacPhie, Alex J. Richardson, Angela J. Marlow, John F. Stein, and Anthony P. Monaco A Variation in 3’ UTR of hPTP7B Increases Specific Gene Expression and Associates with Insulin Resistance Rosa Di Paola, Lucia Frittitta, Giuseppe Miscio, Maura Bozzali, Roberto Baratta, Marta Centra, Daniela Spampinato, Maria Grazia Santagati, Tonino Ercolino, Carmela Cisternino, Teresa Soccio, Sandra Mastroianno, Vittorio Tassi, Peter Almgren, Antonio Pizzuti, Riccardo Vigneri, and Vincenzo Trischitta Individual-Specific Liability Groups in Genetic Linkage, with Applications to Kindreds with Li-Fraumeni Syndrome Sanjay Shete, Christopher |. Amos, Shih-Jen Hwang, and Louise C. Strong Letter to the Editor Sibling Recurrence Risk Ratio as a Measure of Genetic Effect: Caveat Emptor! Sun-Wei Guo Book Review Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects Edited by Peter S. Harper and Max Perutz Reviewed by Albert R. La Spada Announcements Employment Opportunities; Fellowship; Awards; Meetings; Subjects Needed; Request for Research Proposals; Resource for Genetics Research Contents of Volume 70 April 2002 i This Month in the Journal Kathryn Beauregard Review Article Protean PTEN: Form and Function Kristin A. Waite and Charis Eng Articles CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease Suzanne Lesage, Habib Zouali, Jean-Pierre Cézard and the EPWG-IBD group, Jean-Frédéric Colombel and the EPIMAD group, Jacques Belaiche and the GETAID group, Sven Almer, Curt Tysk, Colm O’Morain, Miquel Gassull, Vibeke Binder, Yigaei Finkel, Robert Modigliani, Corinne Gower-Rousseau, Jeanne Macry, Francoise Merlin, Mathias Chamaillard, Anne-Sophie Jannot, Gilles Thomas, and Jean-Pierre Hugot Distinct BRCA7 Rearrangements Involving the BRCA7 Pseudogene Suggest the Existence of a Recombination Hot Spot Nadine Puget, Sophie Gad, Laure Perrin-Vidoz, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Gilbert M. Lenoir, and Sylvie Mazoyer Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”) Pasca! Brouillard, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Michella Ghassibé, Matthew L. Warman, O. T. Tan, Bjorn R. Olsen, and Miikka Vikkula Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome Kinji Ohno, Andrew G. Engel, Xin-Ming Shen, Duygu Selcen, Joan Brengman, C. Michel Harper, Akira Tsujino, and Margherita Milone Ascertainment-Adjusted Parameter Estimates Revisited Michael P. Epstein, Xihong Lin, and Michael Boehnke Genomewide Scan of Hoarding in Sib Pairs in Which Both Sibs Have Gilles de la Tourette Syndrome Heping Zhang, James F. Leckman, David L. Pauls, Chin-Pei Tsai, Kenneth K. Kidd, M. Rosario Campos, and The Tourette Syndrome Association International Consortium for Genetics The Structure of Diversity within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America Ripan S. Malhi, Jason A. Eshleman, Jonathan A. Greenberg, Deborah A. Weiss, Beth A. Schultz Shook, Frederika A. Kaestle, Joseph G. Lorenz, Brian M. Kemp, John R. Johnson, and David Glenn Smith Quantitative-Trait Homozygosity and Association Mapping and Empirical Genomewide Significance in Large, Complex Pedigrees: Fasting Serum-Insulin Level in the Hutterites Mark Abney, Carole Ober, and Mary Sara McPeek A Polymorphism in the 61 Adrenergic Receptor Is Associated with Resting Heart Rate Koustubh Ranade, Eric Jorgenson, Wayne H.-H. Sheu, Dee Pei, Chao Agnes Hsiung, Fu-tien Chiang, Yii-der |. Chen, Richard Pratt, Richard A. Olshen, David Curb, David R. Cox, David Botstein, and Neil Risch Contents of Volume 70 A Mutation in the SOS7 Gene Causes Hereditary Gingival Fibromatosis Type 1 Thomas C. Hart, Yingze Zhang, Michael C. Gorry, P. Suzanne Hart, Margaret Cooper, Mary L. Marazita, Jared M. Marks, Jose R. Cortelli, and Debora Pallos Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP7 Erica R. Eichers, Jane S. Green, David W. Stockton, Christopher S$. Jackman, James Whelan, J. Arch McNamara, Gordon J. Johnson, James R. Lupski, and Nicholas Katsanis Protecting Subjects’ Interests in Genetics Research Jon F. Merz, David Magnus, Mildred K. Cho, and Arthur L. Caplan The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin Christa Lese Martin, Andrew Wong, Alyssa Gross, June Chung, Judy A. Fantes, and David H. Ledbetter Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled Yi-Ju Li, William K. Scott, Dale J. Hedges, Fengyu Zhang, P. Craig Gaskell, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, Rajesh Pahwa, Matthew B. Stern, Bradley C. Hiner, Joseph Jankovic, Fred H. Allen, Jr., Christopher G. Goetz, Frank Mastaglia, Jeffrey M. Stajich, Rachel A. Gibson, Lefkos T. Middleton, Ann M. Saunders, Burton L. Scott, Gary W. Small, Kristin K. Nicodemus, Allison D. Reed, Donald E. Schmechel, Kathleen A. Welsh-Bohmer, P. Michael Conneally, Allen D. Roses, John R. Gilbert, Jeffery M. Vance, Jonathan L. Haines, and Margaret A. Pericak-Vance Reports Alternative Splicing in the a-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype Satoshi Ishii, Shoichiro Nakao, Reiko Minamikawa-Tachino, Robert J. Desnick, and Jian-Qiang Fan A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 Laurent Villard, Karine Nguyen, Carlos Cardoso, Christa Lese Martin, Ann M. Weiss, Mara Sifry-Platt, Arthur W. Grix, John M. Graham, Jr., Robin M. Winter, Richard J. Leventer, and William B. Dobyns Traces of Early Eurasians in the Mansi of Northwest Siberia Revealed by Mitochondrial DNA Analysis Olga A. Derbeneva, Elena B. Starikovskaya, Douglas C. Wallace, and Rem |. Sukernik Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition Heidemarie Neitzel, Luitgard M. 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