Volume 76; Issue 2

The American Journal of Human Genetics

Volume 76; Issue 2

1

A New Susceptibility Locus for Migraine with Aura in the 15q11-q13 Genomic Region Containing Three GABA-A Receptor Genes

Luisa Russo, Paolo Mariotti, Eugenio Sangiorgi, Tiziana Giordano, Iolanda Ricci, Francesca Lupi, Rossella Chiera, Francesco Guzzetta, Giovanni Neri, Fiorella Gurrieri

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 561 KB

english, 2005

2

Introductory Speech for Neil Risch

Leon E. Rosenberg

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.44 MB

english, 2005

3

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimmel, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstr

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 2.11 MB

english, 2005

4

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas-Rothschild, Marlène Rio, Giuseppe Fiermonte, Ferechté Encha-Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben-Neriah, Noman Kadhom, Michel Vekemans, Tania Attié-Bita

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 6.16 MB

english, 2005

5

Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas

Azra H. Ligon, Steven D.P. Moore, Melissa A. Parisi, Matthew E. Mealiffe, David J. Harris, Heather L. Ferguson, Bradley J. Quade, Cynthia C. Morton

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 11.13 MB

english, 2005

6

High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization

Xiaoxiao Zhang, Antoine Snijders, Richard Segraves, Xiuqing Zhang, Anita Niebuhr, Donna Albertson, Huanming Yang, Joe Gray, Erik Niebuhr, Lars Bolund, Dan Pinkel

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 2.53 MB

english, 2005

7

Fine Mapping and Positional Candidate Studies Identify HLA-G as an Asthma Susceptibility Gene on Chromosome 6p21

Dan Nicolae, Nancy J. Cox, Lucille A. Lester, Daniel Schneider, Zheng Tan, Christine Billstrand, Susan Kuldanek, Joseph Donfack, Paul Kogut, Nina M. Patel, Jeffrey Goodenbour, Timothy Howard, Raoul Wo

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 10.72 MB

english, 2005

8

2004 Cotterman Award Winners

Journal:

The American Journal of Human Genetics

Année:

2005

Fichier:

PDF, 7.34 MB

2005

9

Genomewide Scan for Affective Disorder Susceptibility Loci in Families of a Northern Swedish Isolated Population

Tine Venken, Stephan Claes, Samuël Sluijs, Andrew D. Paterson, Cornelia van Duijn, Rolf Adolfsson, Jurgen Del-Favero, Christine Van Broeckhoven

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 4.53 MB

english, 2005

10

Introductory Speech for Robert J. Gorlin

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 734 KB

english, 2005

11

Parental Phenotypes in Family-Based Association Analysis

Shaun Purcell, Pak Sham, Mark J. Daly

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 335 KB

english, 2005

12

Dent Disease with Mutations in OCRL1

Richard R. Hoopes Jr., Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, Janos Matyus, Ari Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Sch

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2005

13

Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies

Hua Tang, Tom Quertermous, Beatriz Rodriguez, Sharon L.R. Kardia, Xiaofeng Zhu, Andrew Brown, James S. Pankow, Michael A. Province, Steven C. Hunt, Eric Boerwinkle, Nicholas J. Schork, Neil J. Risch

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 240 KB

english, 2005

14

And the Band Played On…

Robert J. Gorlin

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.56 MB

english, 2005

15

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Eduard A. Struys, Gajja S. Salomons, Younes Achouri, Emile Van Schaftingen, Salvatore Grosso, William J. Craigen, Nanda M. Verhoeven, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 153 KB

english, 2005

16

The Genetics of Renal Disease.

Peter C. Harris

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 73 KB

english, 2005

17

ERRATUM

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 57 KB

english, 2005

18

Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis.

Julie Ann Neidich

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 71 KB

english, 2005

19

What Is Special about the “Human” in “Human Genetics”?

Robert L. Nussbaum

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 2.46 MB

english, 2005

20

Ethnicity and Human Genetic Linkage Maps

Eric Jorgenson, Hua Tang, Maya Gadde, Mike Province, Mark Leppert, Sharon Kardia, Nicholas Schork, Richard Cooper, D.C. Rao, Eric Boerwinkle, Neil Risch

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 11.12 MB

english, 2005

21

Contrasting Effects of Natural Selection on Human and Chimpanzee CC Chemokine Receptor 5

Stephen Wooding, Anne C. Stone, Diane M. Dunn, Srinivas Mummidi, Lynn B. Jorde, Robert K. Weiss, Sunil Ahuja, Michael J. Bamshad

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 550 KB

english, 2005

22

Role of Replication and CpG Methylation in Fragile X Syndrome CGG Deletions in Primate Cells

Kerrie Nichol Edamura, Michelle R. Leonard, Christopher E. Pearson

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 1005 KB

english, 2005

23

Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

Kenneth E. White, Jose M. Cabral, Siobhan I. Davis, Tonya Fishburn, Wayne E. Evans, Shoji Ichikawa, Joanna Fields, Xijie Yu, Nick J. Shaw, Neil J. McLellan, Carole McKeown, David FitzPatrick, Kai Yu,

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.50 MB

english, 2005

24

Introductory Speech for Louis Kunkel

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.25 MB

english, 2005

25

ERRATUM

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 57 KB

english, 2005

26

The SNP Endgame: A Multidisciplinary Approach

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.54 MB

english, 2005

27

Cloning of the DMD Gene

Louis M. Kunkel

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.17 MB

english, 2005

28

This Month in the Journal

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 118 KB

english, 2005

29

Announcements

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 82 KB

english, 2005