Volume 70; Issue 3

The American Journal of Human Genetics

Volume 70; Issue 3

1

Testing for Genetic Linkage in Families by a Variance-Components Approach in the Presence of Genomic Imprinting

Sanjay Shete, Christopher I. Amos

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 98 KB

english, 2002

2

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, Uri Seligsohn

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

3

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13

I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives, G.A. Rouleau

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.84 MB

english, 2002

4

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, Andrew P. Feinberg

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 124 KB

english, 2002

5

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, Hong-Wen Deng

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 336 KB

english, 2002

6

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, Hans R. Waterham

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 563 KB

english, 2002

7

Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese

Yong-Gang Yao, Qing-Peng Kong, Hans-Jürgen Bandelt, Toomas Kivisild, Ya-Ping Zhang

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 751 KB

english, 2002

8

A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human Pigmentation

Peter A. Kanetsky, Jennifer Swoyer, Saarene Panossian, Robin Holmes, DuPont Guerry, Timothy R. Rebbeck

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

9

Association between Single-Nucleotide Polymorphisms in Selectin Genes and Immunoglobulin A Nephropathy

Takashi Takei, Aritoshi Iida, Kosaku Nitta, Toshihiro Tanaka, Yozo Ohnishi, Ryo Yamada, Shiro Maeda, Tatsuhiko Tsunoda, Sachiyo Takeoka, Kyoko Ito, Kazuho Honda, Keiko Uchida, Ken Tsuchiya, Yasushi Su

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 690 KB

english, 2002

10

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 Hämäläinen, Petra Broas, Geoffrey Joslyn, Iiris Hovatta,

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 847 KB

english, 2002

11

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, Maximilian Muenke

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 407 KB

english, 2002

12

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, Klaus Wrogemann

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.85 MB

english, 2002

13

Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects

Albert R. La Spada

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 35 KB

english, 2002

14

Evidence of Genetic Interaction between the β-Globin Complex and Chromosome 8q in the Expression of Fetal Hemoglobin

Chad P. Garner, Thanusak Tatu, Steve Best, Lisa Creary, Swee Lay Thein

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 207 KB

english, 2002

15

A Genomewide Linkage Screen for Relative Hand Skill in Sibling Pairs

Clyde Francks, Simon E. Fisher, I. Laurence MacPhie, Alex J. Richardson, Angela J. Marlow, John F. Stein, Anthony P. Monaco

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 403 KB

english, 2002

16

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, W.H. Berrettini

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 374 KB

english, 2002

17

Localization of a Gene for Peripheral Arterial Occlusive Disease to Chromosome 1p31

Gudmundur Gudmundsson, Stefan E. Matthiasson, Haukur Arason, Halldor Johannsson, Freyr Runarsson, Hjördis Bjarnason, Katrin Helgadottir, Steinthora Thorisdottir, Gudrun Ingadottir, Klaus Lindpaintner,

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.11 MB

english, 2002

18

Localization of a Susceptibility Gene for Common Forms of Stroke to 5q12

Solveig Gretarsdottir, Sigurlaug Sveinbjörnsdottir, Hjörtur H. Jonsson, Finnbogi Jakobsson, Elisabet Einarsdottir, Uggi Agnarsson, Dana Shkolny, Gisli Einarsson, Herdis M. Gudjonsdottir, Einar M. Vald

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.07 MB

english, 2002

19

Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

Henrik Kaessmann, Sebastian Zöllner, Anna C. Gustafsson, Victor Wiebe, Maris Laan, Joakim Lundeberg, Mathias Uhlén, Svante Pääbo

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 3.99 MB

english, 2002

20

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 Martínez-Marchán, José Mateo, Montserrat Borrell, William Stone, Mark Lathrop, Jordi Fontcub

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.02 MB

english, 2002

21

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.

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 265 KB

english, 2002

22

A Variation in 3′ UTR of hPTP1B 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 Ma

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 263 KB

english, 2002

23

Fine-Scale Mapping of Disease Loci via Shattered Coalescent Modeling of Genealogies

A.P. Morris, J.C. Whittaker, D.J. Balding

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 3.05 MB

english, 2002

24

A Polymorphism in the Human UGRP1 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, Shioko Kimura

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 595 KB

english, 2002

25

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, Christopher I. Amos

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 897 KB

english, 2002

26

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, Djamel

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 980 KB

english, 2002

27

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, Michael F. Seldin

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 789 KB

english, 2002

28

Sibling Recurrence Risk Ratio as a Measure of Genetic Effect: Caveat Emptor!

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

29

Individual-Specific Liability Groups in Genetic Linkage, with Applications to Kindreds with Li-Fraumeni Syndrome

Sanjay Shete, Christopher I. Amos, Shih-Jen Hwang, Louise C. Strong

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 76 KB

english, 2002

30

Announcements

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

31

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002