Volume 80; Issue 5

The American Journal of Human Genetics

Volume 80; Issue 5

1

Genetic Factors in Congenital Diaphragmatic Hernia

A.M. Holder, M. Klaassens, D. Tibboel, A. de Klein, B. Lee, D.A. Scott

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 345 KB

english, 2007

2

Measuring European Population Stratification with Microarray Genotype Data

Marc Bauchet, Brian McEvoy, Laurel N. Pearson, Ellen E. Quillen, Tamara Sarkisian, Kristine Hovhannesyan, Ranjan Deka, Daniel G. Bradley, Mark D. Shriver

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 721 KB

english, 2007

3

The Methylenetetrahydrofolate Reductase 677C→T Polymorphism as a Modulator of a B Vitamin Network with Major Effects on Homocysteine Metabolism

Steinar Hustad, Øivind Midttun, Jørn Schneede, Stein Emil Vollset, Tom Grotmol, Per Magne Ueland

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 356 KB

english, 2007

4

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent R. Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 650 KB

english, 2007

5

Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

N. Dagoneau, S. Bellais, P. Blanchet, P. Sarda, L.I. Al-Gazali, M. Di Rocco, C. Huber, F. Djouadi, C. Le Goff, A. Munnich, V. Cormier-Daire

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 281 KB

english, 2007

6

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 482 KB

english, 2007

7

Genetic Linkage to Chromosome 22q12 for a Heavy-Smoking Quantitative Trait in Two Independent Samples

Scott F. Saccone, Michele L. Pergadia, Anu Loukola, Ulla Broms, Grant W. Montgomery, Jen C. Wang, Arpana Agrawal, Danielle M. Dick, Andrew C. Heath, Alexandre A. Todorov, Heidi Maunu, Kauko Heikkilä,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 416 KB

english, 2007

8

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Munnich, Laurence Colleaux

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.32 MB

english, 2007

9

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit M. Peippo, Juliane Hoyer, Sérgio Sousa, Armand Bottani, Jill Clayton-Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koen Devriendt, Thomy de Ravel, Emi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 732 KB

english, 2007

10

Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A

Erin L. Heinzen, Woohyun Yoon, Sarah K. Tate, Arjune Sen, Nicholas W. Wood, Sanjay M. Sisodiya, David B. Goldstein

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 427 KB

english, 2007

11

Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, and Smoking in Two Subsets of Rheumatoid Arthritis

Henrik Källberg, Leonid Padyukov, Robert M. Plenge, Johan Rönnelid, Peter K. Gregersen, Annette H.M. van der Helm-van Mil, Rene E.M. Toes, Tom W. Huizinga, Lars Klareskog, Lars Alfredsson

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 331 KB

english, 2007

12

The Himalayas as a Directional Barrier to Gene Flow

Tenzin Gayden, Alicia M. Cadenas, Maria Regueiro, Nanda B. Singh, Lev A. Zhivotovsky, Peter A. Underhill, Luigi L. Cavalli-Sforza, Rene J. Herrera

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1013 KB

english, 2007

13

Improving Power in Contrasting Linkage-Disequilibrium Patterns between Cases and Controls

Tao Wang, Xiaofeng Zhu, Robert C. Elston

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 506 KB

english, 2007

14

A Simple and Improved Correction for Population Stratification in Case-Control Studies

Michael P. Epstein, Andrew S. Allen, Glen A. Satten

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 137 KB

english, 2007

15

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Höhne, Christian Becker, Mara Marongiu, Francesca Ch

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 900 KB

english, 2007

16

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Reinhard Kalb, Kornelia Neveling, Holger Hoehn, Hildegard Schneider, Yvonne Linka, Sat Dev Batish, Curtis Hunt, Marianne Berwick, Elsa Callén, Jordi Surrallés, José A. Casado, Juan Bueren, Ángeles Das

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 863 KB

english, 2007

17

Maimon M. Cohen: January 24, 1935, to January 25, 2007

Kurt Hirschhorn, Michael Kaback, David Rimoin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 67 KB

english, 2007

18

The Federal Maze

Joann A. Boughman

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

19

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Claire E. Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard, Simon E. Olpin, Jennifer Watkinson, James R. Bonham, Jaak Jaeken, Gert Matthijs, Emile Van Schaftingen

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 653 KB

english, 2007

20

Erratum

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

21

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

22

Announcements

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

23

CHD7 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Scoliosis

Xiaochong Gao, Derek Gordon, Dongping Zhang, Richard Browne, Cynthia Helms, Joseph Gillum, Samuel Weber, Shonn Devroy, Saralove Swaney, Matthew Dobbs, Jose Morcuende, Val Sheffield, Michael Lovett, An

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.53 MB

english, 2007

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