Volume 80; Issue 1

The American Journal of Human Genetics

Volume 80; Issue 1

1

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Corinne Stoetzel, Jean Muller, Virginie Laurier, Erica E. Davis, Norann A. Zaghloul, Serge Vicaire, Cécile Jacquelin, Frédéric Plewniak, Carmen C. Leitch, Pierre Sarda, Christian Hamel, Thomy J.L. de

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 7.23 MB

english, 2007

2

Genome Scanning by Composite Likelihood

Newton Morton, Nikolas Maniatis, Weihua Zhang, Sarah Ennis, Andrew Collins

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 377 KB

english, 2007

3

Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel G. Laing, Basil T. Darras, Sutherland K. Maciver, Philip R. Dormi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.74 MB

english, 2007

4

A Mitochondrial Stratigraphy for Island Southeast Asia

Catherine Hill, Pedro Soares, Maru Mormina, Vincent Macaulay, Dougie Clarke, Petya B. Blumbach, Matthieu Vizuete-Forster, Peter Forster, David Bulbeck, Stephen Oppenheimer, Martin Richards

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.37 MB

english, 2007

5

Functional Variants in the Promoter Region of Chitinase 3–Like 1 (CHI3L1) and Susceptibility to Schizophrenia

Xinzhi Zhao, Ruqi Tang, Bo Gao, Yongyong Shi, Jian Zhou, Shengzhen Guo, Jing Zhang, Yabing Wang, Wei Tang, Junwei Meng, Sheng Li, Hongsheng Wang, Gang Ma, Chuwen Lin, Yue Xiao, Guoyin Feng, Zhiguang L

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.70 MB

english, 2007

6

Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations

Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Tracey P. Leedom, Louis Ptacek, Eric W. Johnson, Douglas A. Marchuk

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 864 KB

english, 2007

7

Genotype × Adiposity Interaction Linkage Analyses Reveal a Locus on Chromosome 1 for Lipoprotein-Associated Phospholipase A2, a Marker of Inflammation and Oxidative Stress

Vincent P. Diego, David L. Rainwater, Xing-Li Wang, Shelley A. Cole, Joanne E. Curran, Matthew P. Johnson, Jeremy B.M. Jowett, Thomas D. Dyer, Jeff T. Williams, Eric K. Moses, Anthony G. Comuzzie, Jea

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 817 KB

english, 2007

8

An Evaluation of Power and Type I Error of Single-Nucleotide Polymorphism Transmission/Disequilibrium–Based Statistical Methods under Different Family Structures, Missing Parental Data, and Population Stratification

Kristin K. Nicodemus, Augustin Luna, Yin Yao Shugart

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 183 KB

english, 2007

9

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 8.05 MB

english, 2007

10

Orofacial Cleft Risk Is Increased with Maternal Smoking and Specific Detoxification-Gene Variants

Min Shi, Kaare Christensen, Clarice R. Weinberg, Paul Romitti, Lise Bathum, Anthony Lozada, Richard W. Morris, Michael Lovett, Jeffrey C. Murray

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.64 MB

english, 2007

11

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, René Massimiliano Marsano, Edoardo Malfatti, Erika Fernandez-Vizarra, Claudia Donnini, Paolo Mereghetti, Luca De Gioia, Alberto Burlina, Claudio Castellan, Giacomo P. C

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.83 MB

english, 2007

12

X-APL: An Improved Family-Based Test of Association in the Presence of Linkage for the X Chromosome

Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.57 MB

english, 2007

13

Multipoint Linkage-Disequilibrium Mapping with Haplotype-Block Structure

Maoxia Zheng, Mary Sara McPeek

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.29 MB

english, 2007

14

Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide–Polymorphism Association Studies

John V. Pearson, Matthew J. Huentelman, Rebecca F. Halperin, Waibhav D. Tembe, Stacey Melquist, Nils Homer, Marcel Brun, Szabolcs Szelinger, Keith D. Coon, Victoria L. Zismann, Jennifer A. Webster, Th

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.59 MB

english, 2007

15

Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1

Mohammed Naveed, Swapan K. Nath, Mathew Gaines, Mahmoud T. Al-Ali, Najib Al-Khaja, David Hutchings, Jeffrey Golla, Samuel Deutsch, Armand Bottani, Stylianos E. Antonarakis, Uppala Ratnamala, Uppala Ra

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 4.71 MB

english, 2007

16

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Ference J. Loupatty, Peter T. Clayton, Jos P.N. Ruiter, Rob Ofman, Lodewijk IJlst, Garry K. Brown, David R. Thorburn, Robert A. Harris, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon J.R. Heale

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.01 MB

english, 2007

17

ASHG Receives $1.1 Million NSF Grant

Kenna R. Mills Shaw

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

18

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 623 KB

english, 2007

19

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

M. Upadhyaya, S.M. Huson, M. Davies, N. Thomas, N. Chuzhanova, S. Giovannini, D.G. Evans, E. Howard, B. Kerr, S. Griffiths, C. Consoli, L. Side, D. Adams, M. Pierpont, R. Hachen, A. Barnicoat, H. Li,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 755 KB

english, 2007

20

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Paul N. Valdmanis, Inge A. Meijer, Annie Reynolds, Adrienne Lei, Patrick MacLeod, David Schlesinger, Mayana Zatz, Evan Reid, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.56 MB

english, 2007

21

Announcements

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 88 KB

english, 2007

22

A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome

Kendy K. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh, Lindsey R. Kimm, Ze Cheng, Douglas E. Horsman, Calum MacAulay, Raymond T. Ng, Carolyn J. Brown, Evan E. Eichler, Wan L. Lam

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.48 MB

english, 2007

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