Volume 75(4); October 2004

This Month in the Journal

Kathryn Garber

Am J Hum Genet. Oct 2004; 75(4): i–ii.

PMCID:: PMC1182072

Articles

Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

David E. Goldgar, Douglas F. Easton, Amie M. Deffenbaugh, Alvaro N. A. Monteiro, Sean V. Tavtigian, Fergus J. Couch, Breast Cancer Information Core (BIC) Steering Committee

Am J Hum Genet. Oct 2004; 75(4): 535–544. Published online Aug 2, 2004. doi: 10.1086/424388

PMCID:: PMC1182042

Article PubReader PDF–136K

Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region

P. Paschou, Y. Feng, A. J. Pakstis, W. C. Speed, M. M. DeMille, J. R. Kidd, B. Jaghori, R. Kurlan, D. L. Pauls, P. Sandor, C. L. Barr, K. K. Kidd

Am J Hum Genet. Oct 2004; 75(4): 545–560. Published online Aug 9, 2004. doi: 10.1086/424389

PMCID:: PMC1182043

Article PubReader PDF–432K

A Powerful Strategy to Account for Multiple Testing in the Context of Haplotype Analysis

Tim Becker, Michael Knapp

Am J Hum Genet. Oct 2004; 75(4): 561–570. Published online Jul 30, 2004. doi: 10.1086/424390

PMCID:: PMC1182044

Article PubReader PDF–131K

Transmission-Ratio Distortion and Allele Sharing in Affected Sib Pairs: A New Linkage Statistic with Reduced Bias, with Application to Chromosome 6q25.3

Mathieu Lemire, Nicole M. Roslin, Catherine Laprise, Thomas J. Hudson, Kenneth Morgan

Am J Hum Genet. Oct 2004; 75(4): 571–586. Published online Aug 20, 2004. doi: 10.1086/424528

PMCID:: PMC1182045

Article PubReader PDF–224K

The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis

Andrew E. Timms, Alison M. Crane, Anne-Marie Sims, Heather J. Cordell, Linda A. Bradbury, Aaron Abbott, Mark R. E. Coyne, Owen Beynon, Ibi Herzberg, Gordon W. Duff, Andrei Calin, Lon R. Cardon, B. Paul Wordsworth, Matthew A. Brown

Am J Hum Genet. Oct 2004; 75(4): 587–595. Published online Aug 12, 2004. doi: 10.1086/424695

PMCID:: PMC1182046

Article PubReader PDF–109K

Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding, Velina Guergueltcheva, Carolin Schmidt, Angela Abicht, Hanns Lochmüller, Attila Tordai, Lajos Kalmár, Melinda Nagy, Veronika Karcagi, Marc Jeanpierre, Agnes Herczegfalvi, David Beeson, Viswanathan Venkataraman, Kim Warwick Carter, Jeff Reeve, Rosario de Pablo, Vaidutis Kučinskas, Luba Kalaydjieva

Am J Hum Genet. Oct 2004; 75(4): 596–609. Published online Aug 20, 2004. doi: 10.1086/424759

PMCID:: PMC1182047

Article PubReader PDF–312K

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson, Ian D. Krantz

Am J Hum Genet. Oct 2004; 75(4): 610–623. Published online Aug 18, 2004. doi: 10.1086/424698

PMCID:: PMC1182048

Article PubReader PDF–533K

Polymorphisms in the Trace Amine Receptor 4 (TRAR4) Gene on Chromosome 6q23.2 Are Associated with Susceptibility to Schizophrenia

Jubao Duan, Maria Martinez, Alan R. Sanders, Cuiping Hou, Naruya Saitou, Takashi Kitano, Bryan J. Mowry, Raymond R. Crowe, Jeremy M. Silverman, Douglas F. Levinson, Pablo V. Gejman

Am J Hum Genet. Oct 2004; 75(4): 624–638. Published online Aug 24, 2004. doi: 10.1086/424887

PMCID:: PMC1182049

Article PubReader PDF–348K

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Am J Hum Genet. Oct 2004; 75(4): 639–646. Published online Aug 20, 2004. doi: 10.1086/424889

PMCID:: PMC1182050

Article PubReader PDF–311K

Sequence-Based Linkage Analysis

Itay Furman, Mark J. Rieder, Suzanne da Ponte, Dana P. Carrington, Deborah A. Nickerson, Leonid Kruglyak, Kyriacos Markianos

Am J Hum Genet. Oct 2004; 75(4): 647–653. Published online Aug 25, 2004. doi: 10.1086/424888

PMCID:: PMC1182051

Article PubReader PDF–136K

Reports

Chromosomal Instability at Common Fragile Sites in Seckel Syndrome

Anne M. Casper, Sandra G. Durkin, Martin F. Arlt, Thomas W. Glover

Am J Hum Genet. Oct 2004; 75(4): 654–660. Published online Aug 12, 2004. doi: 10.1086/422701

PMCID:: PMC1182052

Article PubReader PDF–329K

Attention Deficit Hyperactivity Disorder: Fine Mapping Supports Linkage to 5p13, 6q12, 16p13, and 17p11

Matthew N. Ogdie, Simon E. Fisher, May Yang, Janeen Ishii, Clyde Francks, Sandra K. Loo, Rita M. Cantor, James T. McCracken, James J. McGough, Susan L. Smalley, Stanley F. Nelson

Am J Hum Genet. Oct 2004; 75(4): 661–668. Published online Aug 3, 2004. doi: 10.1086/424387

PMCID:: PMC1182053

Article PubReader PDF–307K

Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease

Lisa Skipper, Kristen Wilkes, Mathias Toft, Matthew Baker, Sarah Lincoln, Mary Hulihan, Owen A. Ross, Mike Hutton, Jan Aasly, Matthew Farrer

Am J Hum Genet. Oct 2004; 75(4): 669–677. Published online Aug 3, 2004. doi: 10.1086/424492

PMCID:: PMC1182054

Article PubReader PDF–319K

The G/G Genotype of a Resistin Single-Nucleotide Polymorphism at −420 Increases Type 2 Diabetes Mellitus Susceptibility by Inducing Promoter Activity through Specific Binding of Sp1/3

Haruhiko Osawa, Kazuya Yamada, Hiroshi Onuma, Akiko Murakami, Masaaki Ochi, Hiroko Kawata, Tatsuya Nishimiya, Toshiyuki Niiya, Ikki Shimizu, Wataru Nishida, Mitsuru Hashiramoto, Azuma Kanatsuka, Yasuhisa Fujii, Jun Ohashi, Hideichi Makino

Am J Hum Genet. Oct 2004; 75(4): 678–686. Published online Aug 26, 2004. doi: 10.1086/424761

PMCID:: PMC1182055

Article PubReader PDF–397K

Guidelines for Genotyping in Genomewide Linkage Studies: Single-Nucleotide–Polymorphism Maps Versus Microsatellite Maps

David M. Evans, Lon R. Cardon

Am J Hum Genet. Oct 2004; 75(4): 687–692. Published online Aug 13, 2004. doi: 10.1086/424696

PMCID:: PMC1182056

Article PubReader PDF–367K

The Longue Durée of Genetic Ancestry: Multiple Genetic Marker Systems and Celtic Origins on the Atlantic Facade of Europe

Brian McEvoy, Martin Richards, Peter Forster, Daniel G. Bradley

Am J Hum Genet. Oct 2004; 75(4): 693–702. Published online Aug 12, 2004. doi: 10.1086/424697

PMCID:: PMC1182057

Article PubReader PDF–391K

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher Meredith, Ralf Herrmann, Cheryl Parry, Khema Liyanage, Danielle E. Dye, Hayley J. Durling, Rachael M. Duff, Kaye Beckman, Marianne de Visser, Maaike M. van der Graaff, Peter Hedera, John K. Fink, Elizabeth M. Petty, Phillipa Lamont, Vicki Fabian, Leslie Bridges, Thomas Voit, Frank L. Mastaglia, Nigel G. Laing

Am J Hum Genet. Oct 2004; 75(4): 703–708. Published online Aug 20, 2004. doi: 10.1086/424760

PMCID:: PMC1182058

Article PubReader PDF–159K

The IL12B Gene Is Associated with Asthma

Adrienne G. Randolph, Christoph Lange, Edwin K. Silverman, Ross Lazarus, Eric S. Silverman, Benjamin Raby, Alison Brown, Al Ozonoff, Brent Richter, Scott T. Weiss

Am J Hum Genet. Oct 2004; 75(4): 709–715. Published online Aug 20, 2004. doi: 10.1086/424886