Volume 80; Issue 3

The American Journal of Human Genetics

Volume 80; Issue 3

1

Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation

Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, Wolfgang Sperl

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

2

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pie, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Vic

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 677 KB

english, 2007

3

Erratum

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 177 KB

english, 2007

4

Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

Karsten Bork Nielsen, Suzette Sørensen, Luca Cartegni, Thomas Juhl Corydon, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Line Sinnathamby Reinert, Orly Elpeleg, Adrian R. Krainer, Niels Gregersen, Jørg

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.41 MB

english, 2007

5

Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E. Campbell, Anita Rauch

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 477 KB

english, 2007

6

Gene-Expression Variation Within and Among Human Populations

John D. Storey, Jennifer Madeoy, Jeanna L. Strout, Mark Wurfel, James Ronald, Joshua M. Akey

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 401 KB

english, 2007

7

Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike

Jiong Yan, Weimin Bi, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 481 KB

english, 2007

8

Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism

Satoshi Makino, Ryuji Kaji, Satoshi Ando, Maiko Tomizawa, Katsuhito Yasuno, Satoshi Goto, Shinnichi Matsumoto, Ma. Daisy Tabuena, Elma Maranon, Marita Dantes, Lillian V. Lee, Kazumasa Ogasawara, Ikuo

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.36 MB

english, 2007

9

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Gröbe, Gerhard Hammersen, Ulrich

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 529 KB

english, 2007

10

Polymorphic Variation in Human Meiotic Recombination

Vivian G. Cheung, Joshua T. Burdick, Deborah Hirschmann, Michael Morley

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 391 KB

english, 2007

11

The Evolution of Satellite III DNA Subfamilies among Primates

Malgorzata Jarmuż, Caron D. Glotzbach, Kristen A. Bailey, Ruma Bandyopadhyay, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 406 KB

english, 2007

12

No Gene Is an Island: The Flip-Flop Phenomenon

Ping-I Lin, Jeffery M. Vance, Margaret A. Pericak-Vance, Eden R. Martin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 648 KB

english, 2007

13

Genomewide Association Studies Data Sharing: National Institutes of Health Policy Process

Joann A. Boughman

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 42 KB

english, 2007

14

The Use of Inferred Haplotypes in Downstream Analyses

D.Y. Lin, B.E. Huang

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 71 KB

english, 2007

15

Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians

Noriyuki Fuku, Kyong Soo Park, Yoshiji Yamada, Yutaka Nishigaki, Young Min Cho, Hitoshi Matsuo, Tomonori Segawa, Sachiro Watanabe, Kimihiko Kato, Kiyoshi Yokoi, Yoshinori Nozawa, Hong Kyu Lee, Masashi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 123 KB

english, 2007

16

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, Gerhard Hammersen, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, David Chitayat,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.21 MB

english, 2007

17

Localization of a Gene for Nonsyndromic Renal Hypodysplasia to Chromosome 1p32-33

Simone Sanna-Cherchi, Gianluca Caridi, Patricia L. Weng, Monica Dagnino, Marco Seri, Anita Konka, Danio Somenzi, Alba Carrea, Claudia Izzi, Domenica Casu, Landino Allegri, Kai M. Schmidt-Ott, Jonathan

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 616 KB

english, 2007

18

Evidence of Positive Selection on a Class I ADH Locus

Yi Han, Sheng Gu, Hiroki Oota, Michael V. Osier, Andrew J. Pakstis, William C. Speed, Judith R. Kidd, Kenneth K. Kidd

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.50 MB

english, 2007

19

First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Nicolaas G.J. Jaspers, Anja Raams, Margherita Cirillo Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria Rasile Robinson, Giuseppina Giglia-Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan H.J. Hoeijm

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.32 MB

english, 2007

20

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Lina Basel-Vanagaite, Revital Attia, Akemi Ishida-Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik-Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sp

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.62 MB

english, 2007

21

Efficient Association Mapping of Quantitative Trait Loci with Selective Genotyping

B.E. Huang, D.Y. Lin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 226 KB

english, 2007

22

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

23

Announcements

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

24

Mutation in CUL4B, Which Encodes a Member of Cullin-RING Ubiquitin Ligase Complex, Causes X-Linked Mental Retardation

Yongxin Zou, Qiji Liu, Bingxi Chen, Xiyu Zhang, Chenhong Guo, Haibin Zhou, Jiangxia Li, Guimin Gao, Yishou Guo, Chuanzhu Yan, Jianjun Wei, Changshun Shao, Yaoqin Gong

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 259 KB

english, 2007

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