Volume 79(1); 2006 Jul

This Month in the Journal

This Month in the Journal

Robin E. Williamson

Am J Hum Genet. 2006 Jul; 79(1): i–ii.

PMCID:: PMC1474125

Article PubReader PDF–41K Cite

Articles

Reconstructing Genetic Ancestry Blocks in Admixed Individuals

Hua Tang, Marc Coram, Pei Wang, Xiaofeng Zhu, Neil Risch

Am J Hum Genet. 2006 Jul; 79(1): 1–12. Published online 2006 May 17. doi: 10.1086/504302

PMCID:: PMC1474129

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Mapping Tumor-Suppressor Genes with Multipoint Statistics from Copy-Number–Variation Data

Iuliana Ionita, Raoul-Sam Daruwala, Bud Mishra

Am J Hum Genet. 2006 Jul; 79(1): 13–22. Published online 2006 May 30. doi: 10.1086/504354

PMCID:: PMC1474131

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Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome

Marta S. Sarquis, Shipra Agrawal, Lei Shen, Robert Pilarski, Xiao-Ping Zhou, Charis Eng

Am J Hum Genet. 2006 Jul; 79(1): 23–30. Published online 2006 May 22. doi: 10.1086/504392

PMCID:: PMC1474112

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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick

Am J Hum Genet. 2006 Jul; 79(1): 31–40. Published online 2006 Apr 28. doi: 10.1086/504601

PMCID:: PMC1474133

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Human Genomic Deletions Mediated by Recombination between Alu Elements

Shurjo K. Sen, Kyudong Han, Jianxin Wang, Jungnam Lee, Hui Wang, Pauline A. Callinan, Matthew Dyer, Richard Cordaux, Ping Liang, Mark A. Batzer

Am J Hum Genet. 2006 Jul; 79(1): 41–53. Published online 2006 May 3. doi: 10.1086/504600

PMCID:: PMC1474114

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Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease

Richa Saxena, Paul I. W. de Bakker, Karyn Singer, Vamsi Mootha, Noël Burtt, Joel N. Hirschhorn, Daniel Gaudet, Bo Isomaa, Mark J. Daly, Leif Groop, Kristin G. Ardlie, David Altshuler

Am J Hum Genet. 2006 Jul; 79(1): 54–61. Published online 2006 May 24. doi: 10.1086/504926

PMCID:: PMC1474138

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome

Anne-Louise Leutenegger, Audrey Labalme, Emmanuelle Génin, Annick Toutain, Elisabeth Steichen, Françoise Clerget-Darpoux, Patrick Edery

Am J Hum Genet. 2006 Jul; 79(1): 62–66. Published online 2006 Apr 28. doi: 10.1086/504640

PMCID:: PMC1474127

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Intra- and Interindividual Epigenetic Variation in Human Germ Cells

James M. Flanagan, Violeta Popendikyte, Natalija Pozdniakovaite, Martha Sobolev, Abbas Assadzadeh, Axel Schumacher, Masood Zangeneh, Lynette Lau, Carl Virtanen, Sun-Chong Wang, Arturas Petronis

Am J Hum Genet. 2006 Jul; 79(1): 67–84. Published online 2006 May 25. doi: 10.1086/504729

PMCID:: PMC1474120

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Trait Components Provide Tools to Dissect the Genetic Susceptibility of Migraine

V. Anttila, M. Kallela, G. Oswell, M. A. Kaunisto, D. R. Nyholt, E. Hämäläinen, H. Havanka, M. Ilmavirta, J. Terwilliger, E. Sobel, L. Peltonen, J. Kaprio, M. Färkkilä, M. Wessman, A. Palotie

Am J Hum Genet. 2006 Jul; 79(1): 85–99. Published online 2006 May 10. doi: 10.1086/504814

PMCID:: PMC1474123

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Bayesian Graphical Models for Genomewide Association Studies

Claudio J. Verzilli, Nigel Stallard, John C. Whittaker

Am J Hum Genet. 2006 Jul; 79(1): 100–112. Published online 2006 May 30. doi: 10.1086/505313

PMCID:: PMC1474122

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Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure

Arnaud Lacombe, Hane Lee, Laila Zahed, Mahmoud Choucair, Jean-Marc Muller, Stanley F. Nelson, Wael Salameh, Eric Vilain

Am J Hum Genet. 2006 Jul; 79(1): 113–119. Published online 2006 May 26. doi: 10.1086/505406

PMCID:: PMC1474115

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Genetic Variation in the CCL18-CCL3-CCL4 Chemokine Gene Cluster Influences HIV Type 1 Transmission and AIDS Disease Progression

William S. Modi, James Lautenberger, Ping An, Kevin Scott, James J. Goedert, Gregory D. Kirk, Susan Buchbinder, John Phair, Sharyne Donfield, Stephen J. O’Brien, Cheryl Winkler

Am J Hum Genet. 2006 Jul; 79(1): 120–128. Published online 2006 May 30. doi: 10.1086/505331

PMCID:: PMC1474130

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Reports

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sarkozy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

Am J Hum Genet. 2006 Jul; 79(1): 129–135. Published online 2006 May 1. doi: 10.1086/504394

PMCID:: PMC1474118

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DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Mark M. Awad, Darshan Dalal, Eunpi Cho, Nuria Amat-Alarcon, Cynthia James, Crystal Tichnell, April Tucker, Stuart D. Russell, David A. Bluemke, Harry C. Dietz, Hugh Calkins, Daniel P. Judge

Am J Hum Genet. 2006 Jul; 79(1): 136–142. Published online 2006 Apr 28. doi: 10.1086/504393

PMCID:: PMC1474134

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Double Inactivation of NF1 in Tibial Pseudarthrosis

David A. Stevenson, Holly Zhou, Shadi Ashrafi, Ludwine M. Messiaen, John C. Carey, Jacques L. D’Astous, Stephen D. Santora, David H. Viskochil

Am J Hum Genet. 2006 Jul; 79(1): 143–148. Published online 2006 May 10. doi: 10.1086/504441

PMCID:: PMC1474128

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ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis

Ulla Hodgson, Ville Pulkkinen, Morag Dixon, Myriam Peyrard-Janvid, Marko Rehn, Päivi Lahermo, Vesa Ollikainen, Kaisa Salmenkivi, Vuokko Kinnula, Juha Kere, Pentti Tukiainen, Tarja Laitinen

Am J Hum Genet. 2006 Jul; 79(1): 149–154. Published online 2006 May 9. doi: 10.1086/504639

PMCID:: PMC1474126

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Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly

N. A. Oates, J. van Vliet, D. L. Duffy, H. Y. Kroes, N. G. Martin, D. I. Boomsma, M. Campbell, M. G. Coulthard, E. Whitelaw, S. Chong

Am J Hum Genet. 2006 Jul; 79(1): 155–162. Published online 2006 May 22. doi: 10.1086/505031

PMCID:: PMC1474116

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Familial Osteoarthritis of the Hip Joint Associated with Acetabular Dysplasia Maps to Chromosome 13q

Akihiko Mabuchi, Shigeru Nakamura, Yoshio Takatori, Shiro Ikegawa

Am J Hum Genet. 2006 Jul; 79(1): 163–168. Published online 2006 May 4. doi: 10.1086/505088

PMCID:: PMC1474113

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NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan McDaniell, Daniel M. Warthen, Pedro A. Sanchez-Lara, Athma Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner

Am J Hum Genet. 2006 Jul; 79(1): 169–173. Published online 2006 May 10. doi: 10.1086/505332

PMCID:: PMC1474136

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Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele

Ellen Wilch, Mei Zhu, Kirk B. Burkhart, Martha Regier, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici

Am J Hum Genet. 2006 Jul; 79(1): 174–179. Published online 2006 May 17. doi: 10.1086/505333

PMCID:: PMC1474119

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Letters to the Editor

Single-Nucleotide Polymorphism rs498055 on Chromosome 10q24 Is Not Associated with Alzheimer Disease in Two Independent Family Samples

Lars Bertram, Monica Hsiao, Christoph Lange, Deborah Blacker, Rudolph E. Tanzi

Am J Hum Genet. 2006 Jul; 79(1): 180–183. doi: 10.1086/505032

PMCID:: PMC1474135

Article PubReader PDF–126K Cite

Reply to Bertram et al.

Andrew Grupe, Yonghong Li, Charles Rowland, Tony Hinrichs, Peter Holmans, John Hardy, Michael O’Donovan, Michael J. Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jul; 79(1): 183–184.

PMCID:: PMC1474121

Article PubReader PDF–126K Cite

The SERPINE2 Gene and Chronic Obstructive Pulmonary Disease

Sally Chappell, Leslie Daly, Kevin Morgan, Tamar Guetta Baranes, Josep Roca, Roberto Rabinovich, Ann Millar, Seamas C. Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter S. Hiemstra, Massimo Miniati, Simonetta Monti, Clare M. O’Connor, Noor Kalsheker

Am J Hum Genet. 2006 Jul; 79(1): 184–186. doi: 10.1086/505268