Volume 76; Issue 6

The American Journal of Human Genetics

Volume 76; Issue 6

1

Announcements

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 79 KB

english, 2005

2

Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal

Mingyao Li, Michael Boehnke, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 391 KB

english, 2005

3

Replication of Autism Linkage: Fine-Mapping Peak at 17q21

Rita M. Cantor, Naoko Kono, Jackie A. Duvall, Ana Alvarez-Retuerto, Jennifer L. Stone, Maricela Alarcón, Stanley F. Nelson, Daniel H. Geschwind

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 484 KB

english, 2005

4

A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families

Jian-Jun Chen, Wei Huang, Jin-Ping Gui, Sen Yang, Fu-Sheng Zhou, Quan-Geng Xiong, Hong-Bo Wu, Yong Cui, Min Gao, Wei Li, Jin-Xian Li, Kai-Lin Yan, Wen-Tao Yuan, Shi-Jie Xu, Jian-Jun Liu, Xue-Jun Zhang

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 652 KB

english, 2005

5

A Genomewide Exploration Suggests a New Candidate Gene at Chromosome 11q23 as the Major Determinant of Plasma Homocysteine Levels: Results from the GAIT Project

Juan Carlos Souto, Francisco Blanco-Vaca, José Manuel Soria, Alfonso Buil, Laura Almasy, Jordi Ordoñez-Llanos, Jesús Mª Martín-Campos, Mark Lathrop, William Stone, John Blangero, Jordi Fontcuberta

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 274 KB

english, 2005

6

Human Evolutionary Genetics: Origins, Peoples and Disease.

Stephen L. Zegura

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

7

Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT

Gabrielle Barnby, Aaron Abbott, Nuala Sykes, Andrew Morris, Daniel E. Weeks, Richard Mott, Janine Lamb, Anthony J. Bailey, Anthony P. Monaco

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 328 KB

english, 2005

8

In Silico Analysis of Disease-Association Mapping Strategies Using the Coalescent Process and Incorporating Ascertainment and Selection

Ying Wang, Bruce Rannala

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 626 KB

english, 2005

9

Rational Inferences about Departures from Hardy-Weinberg Equilibrium

Jacqueline K. Wittke-Thompson, Anna Pluzhnikov, Nancy J. Cox

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 522 KB

english, 2005

10

Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis

Sabine Weller, Ivelisse Cajigas, James Morrell, Cassandra Obie, Gary Steel, Stephen J. Gould, David Valle

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 13.31 MB

english, 2005

11

Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology.

Katherine D. Mathews

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 52 KB

english, 2005

12

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Nicola K. Ragge, Alison G. Brown, Charlotte M. Poloschek, Birgit Lorenz, R. Alex Henderson, Michael P. Clarke, Isabelle Russell-Eggitt, Alistair Fielder, Dianne Gerrelli, Juan Pedro Martinez-Barbera,

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 7.34 MB

english, 2005

13

Single-Gene Disorders: What Role Could Moonlighting Enzymes Play?

Ganesh Sriram, Julian A. Martinez, Edward R.B. McCabe, James C. Liao, Katrina M. Dipple

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.18 MB

english, 2005

14

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

Barbara Burwinkel, John W. Scott, Christoph Bührer, Frank K.H. van Landeghem, Gerald F. Cox, Callum J. Wilson, D. Grahame Hardie, Manfred W. Kilimann

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.21 MB

english, 2005

15

Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

Kay D. MacDermot, Elena Bonora, Nuala Sykes, Anne-Marie Coupe, Cecilia S.L. Lai, Sonja C. Vernes, Faraneh Vargha-Khadem, Fiona McKenzie, Robert L. Smith, Anthony P. Monaco, Simon E. Fisher

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

16

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Laura S. Schmidt, Michael L. Nickerson, Michelle B. Warren, Gladys M. Glenn, Jorge R. Toro, Maria J. Merino, Maria L. Turner, Peter L. Choyke, Nirmala Sharma, James Peterson, Patrick Morrison, Eamonn

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.42 MB

english, 2005

17

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner-Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair Pagnamenta, Sharon Eshhar, Ann Saada

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 949 KB

english, 2005

18

ERRATUM

Journal:

The American Journal of Human Genetics

Year:

2005

File:

PDF, 64 KB

2005

19

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

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