Volume 73(5); 2003 Nov

This Month in the Journal

This Month in the Journal

Kathryn Garber

Am J Hum Genet. 2003 Nov; 73(5): i–ii.

PMCID:: PMC1180506

Article PubReader PDF–44K Cite

Obituary

David M. Danks, M.D., A.O. (June 4, 1931–July 8, 2003):Founder, Murdoch Childrens Research Institute

K. H. Andy Choo

Am J Hum Genet. 2003 Nov; 73(5): 981–985.

PMCID:: PMC1180503

Article PubReader PDF–345K Cite

Articles

Localization of a Gene for Migraine without Aura to Chromosome 4q21

Ásgeir Björnsson, Grétar Gudmundsson, Einar Gudfinnsson, María Hrafnsdóttir, John Benedikz, Svanhildur Skúladóttir, Kristleifur Kristjánsson, Michael L. Frigge, Augustine Kong, Kári Stefánsson, Jeffrey R. Gulcher

Am J Hum Genet. 2003 Nov; 73(5): 986–993. Published online 2003 Sep 25. doi: 10.1086/378417

Correction in:: Am J Hum Genet. 2005 Apr; 76(4): 715.

PMCID:: PMC1180504

Article PubReader PDF–154K Cite

Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity

Ewa Ziętkiewicz, Vania Yotova, Dominik Gehl, Tina Wambach, Isabel Arrieta, Mark Batzer, David E. C. Cole, Peter Hechtman, Feige Kaplan, David Modiano, Jean-Paul Moisan, Roman Michalski, Damian Labuda

Am J Hum Genet. 2003 Nov; 73(5): 994–1015. Published online 2003 Sep 25. doi: 10.1086/378777

PMCID:: PMC1180505

Article PubReader PDF–922K Cite

Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes

Eden R. Martin, Meredyth P. Bass, Elizabeth R. Hauser, Norman L. Kaplan

Am J Hum Genet. 2003 Nov; 73(5): 1016–1026. Published online 2003 Oct 9. doi: 10.1086/378779

PMCID:: PMC1180482

Article PubReader PDF–312K Cite

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina E. Ensenauer, Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D. Brian Dawson, Erik C. Thorland, Cindy Pham Lorentz, Jennifer L. Goldstein, Marie T. McDonald, Wendy E. Smith, Elba Simon-Fayard, Alan A. Alexander, Anita S. Kulharya, Rhett P. Ketterling, Robin D. Clark, Syed M. Jalal

Am J Hum Genet. 2003 Nov; 73(5): 1027–1040. Published online 2003 Oct 2. doi: 10.1086/378818

PMCID:: PMC1180483

Article PubReader PDF–733K Cite

Ordered-Subsets Linkage Analysis Detects Novel Alzheimer Disease Loci on Chromosomes 2q34 and 15q22

William K. Scott, Elizabeth R. Hauser, Donald E. Schmechel, Kathleen A. Welsh-Bohmer, Gary W. Small, Allen D. Roses, Ann M. Saunders, John R. Gilbert, Jeffery M. Vance, Jonathan L. Haines, Margaret A. Pericak-Vance

Am J Hum Genet. 2003 Nov; 73(5): 1041–1051. Published online 2003 Oct 16. doi: 10.1086/379083

PMCID:: PMC1180484

Article PubReader PDF–158K Cite

A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar

Bruno Bucheton, Laurent Abel, Sayda El-Safi, Musa M. Kheir, Sylvana Pavek, Arnaud Lemainque, Alain J. Dessein

Am J Hum Genet. 2003 Nov; 73(5): 1052–1060. Published online 2003 Oct 13. doi: 10.1086/379084

PMCID:: PMC1180485

Article PubReader PDF–163K Cite

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity

S. E. Roberts, F. Maggouta, N. S. Thomas, P. A. Jacobs, J. A. Crolla

Am J Hum Genet. 2003 Nov; 73(5): 1061–1072. Published online 2003 Oct 14. doi: 10.1086/379155

PMCID:: PMC1180486

Article PubReader PDF–474K Cite

Genomewide Distribution of High-Frequency, Completely Mismatching SNP Haplotype Pairs Observed To Be Common across Human Populations

Jinghui Zhang, William L. Rowe, Andrew G. Clark, Kenneth H. Buetow

Am J Hum Genet. 2003 Nov; 73(5): 1073–1081. Published online 2003 Oct 14. doi: 10.1086/379154

PMCID:: PMC1180487

Article PubReader PDF–395K Cite

Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)

M. Zhu, T. Yang, S. Wei, A. T. DeWan, R. J. Morell, J. L. Elfenbein, R. A. Fisher, S. M. Leal, R. J. H. Smith, K. H. Friderici

Am J Hum Genet. 2003 Nov; 73(5): 1082–1091. Published online 2003 Sep 16. doi: 10.1086/379286

PMCID:: PMC1180488

Article PubReader PDF–875K Cite

Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells

Zhi Yang, Rachel Lau, Julien L. Marcadier, David Chitayat, Christopher E. Pearson

Am J Hum Genet. 2003 Nov; 73(5): 1092–1105. Published online 2003 Oct 21. doi: 10.1086/379523

PMCID:: PMC1180489

Article PubReader PDF–393K Cite

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H. G. Verheijen, Greg Lemke, Esra Battaloglu, Yesim Parman, Sevim Erdem, Ersin Tan, Haluk Topaloglu, Andreas Hahn, Wolfgang Müller-Felber, Nicolò Rizzuto, Gian Maria Fabrizi, Manfred Stuhrmann, Sabine Rudnik-Schöneborn, Stephan Züchner, J. Michael Schröder, Eckhard Buchheim, Volker Straub, Jörg Klepper, Kathrin Huehne, Bernd Rautenstrauss, Reinhard Büttner, Eva Nelis, Klaus Zerres

Am J Hum Genet. 2003 Nov; 73(5): 1106–1119. Published online 2003 Oct 21. doi: 10.1086/379525

PMCID:: PMC1180490

Article PubReader PDF–825K Cite

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Kathryn P. Burdon, James D. McKay, Michèle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, Jamie E. Craig

Am J Hum Genet. 2003 Nov; 73(5): 1120–1130. Published online 2003 Oct 16. doi: 10.1086/379381

PMCID:: PMC1180491

Article PubReader PDF–903K Cite

RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

Dror Sharon, Michael A. Sandberg, Vivian W. Rabe, Melissa Stillberger, Thaddeus P. Dryja, Eliot L. Berson

Am J Hum Genet. 2003 Nov; 73(5): 1131–1146. Published online 2003 Oct 16. doi: 10.1086/379379

PMCID:: PMC1180492

Article PubReader PDF–382K Cite

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia

Michael A. Simpson, Harold Cross, Christos Proukakis, Anna Pryde, Ruth Hershberger, Arnaud Chatonnet, Michael A. Patton, Andrew H. Crosby

Am J Hum Genet. 2003 Nov; 73(5): 1147–1156. Published online 2003 Oct 16. doi: 10.1086/379522

PMCID:: PMC1180493

Article PubReader PDF–648K Cite

Reports

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

Ivan P. Gorlov, Olga Y. Gorlova, Marsha L. Frazier, Christopher I. Amos

Am J Hum Genet. 2003 Nov; 73(5): 1157–1161. Published online 2003 Oct 1. doi: 10.1086/378819

PMCID:: PMC1180494

Article PubReader PDF–148K Cite

A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data

Matthew Stephens, Peter Donnelly

Am J Hum Genet. 2003 Nov; 73(5): 1162–1169. Published online 2003 Oct 20. doi: 10.1086/379378

PMCID:: PMC1180495

Article PubReader PDF–93K Cite

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire, Kelly Springell, Peter Corry, Marc J. Abramowicz, Ganesh H. Mochida, Raoul C. M. Hennekam, Eamonn R. Maher, Jean-Pierre Fryns, Abdulrahman Alswaid, Hussain Jafri, Yasmin Rashid, Ammar Mubaidin, Christopher A. Walsh, Emma Roberts, C. Geoffrey Woods

Am J Hum Genet. 2003 Nov; 73(5): 1170–1177. Published online 2003 Oct 21. doi: 10.1086/379085

PMCID:: PMC1180496

Article PubReader PDF–221K Cite

Origin and Diffusion of mtDNA Haplogroup X

Maere Reidla, Toomas Kivisild, Ene Metspalu, Katrin Kaldma, Kristiina Tambets, Helle-Viivi Tolk, Jüri Parik, Eva-Liis Loogväli, Miroslava Derenko, Boris Malyarchuk, Marina Bermisheva, Sergey Zhadanov, Erwan Pennarun, Marina Gubina, Maria Golubenko, Larisa Damba, Sardana Fedorova, Vladislava Gusar, Elena Grechanina, Ilia Mikerezi, Jean-Paul Moisan, André Chaventré, Elsa Khusnutdinova, Ludmila Osipova, Vadim Stepanov, Mikhail Voevoda, Alessandro Achilli, Chiara Rengo, Olga Rickards, Gian Franco De Stefano, Surinder Papiha, Lars Beckman, Branka Janicijevic, Pavao Rudan, Nicholas Anagnou, Emmanuel Michalodimitrakis, Slawomir Koziel, Esien Usanga, Tarekegn Geberhiwot, Corinna Herrnstadt, Neil Howell, Antonio Torroni, Richard Villems

Am J Hum Genet. 2003 Nov; 73(5): 1178–1190. Published online 2003 Oct 20. doi: 10.1086/379380

PMCID:: PMC1180497

Article PubReader PDF–246K Cite

Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults

Xiao-Ping Zhou, Deborah J. Marsh, Carl D. Morrison, Abhik R. Chaudhury, Marius Maxwell, Guido Reifenberger, Charis Eng

Am J Hum Genet. 2003 Nov; 73(5): 1191–1198. Published online 2003 Oct 17. doi: 10.1086/379382

PMCID:: PMC1180498

Article PubReader PDF–363K Cite

Marjo S. van der Knaap, Carola G. M. van Berkel, Jochen Herms, Rudy van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A. A. P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

Am J Hum Genet. 2003 Nov; 73(5): 1199–1207. Published online 2003 Oct 17. doi: 10.1086/379524

PMCID:: PMC1180499

Article PubReader PDF–411K Cite

Letter to the Editor

Meta-Analysis and a Large Association Study Confirm a Role for Calpain-10 Variation in Type 2 Diabetes Susceptibility

Michael N. Weedon, Peter E. H. Schwarz, Yukio Horikawa, Naoko Iwasaki, Thomas Illig, Rolf Holle, Wolfgang Rathmann, Thomas Selisko, Jan Schulze, Katherine R. Owen, Julie Evans, Laura del Bosque-Plata, Graham Hitman, Mark Walker, Jonathan C. Levy, Mike Sampson, Graeme I. Bell, Mark I. McCarthy, Andrew T. Hattersley, Timothy M. Frayling

Am J Hum Genet. 2003 Nov; 73(5): 1208–1212. doi: 10.1086/379285