M. E. Hodes, Karen Woodward, Nancy B. Spinner, Beverly S. Emanuel, Agnes Enrico-Simon, John Kamholz, Dwight Stambolian, Elaine H. Zackai, Victoria M. Pratt, I. T. Thomas, Kerry Crandall, Stephen R. Dlouhy, Sue Malcolm

Am J Hum Genet. 2000 Jul; 67(1): 14–22. Published online 2000 May 25. doi: 10.1086/302965

PMCID:: PMC1287072

Abstract Article PDF–548K

Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase

Aleksander Hinek, Sunqu Zhang, Adam C. Smith, John W. Callahan

Am J Hum Genet. 2000 Jul; 67(1): 23–36. Published online 2000 Jun 6. doi: 10.1086/302968

PMCID:: PMC1287082

Abstract Article PDF–1.1M

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

Irina V. Mersiyanova, Alexander V. Perepelov, Alexander V. Polyakov, Vladimir F. Sitnikov, Elena L. Dadali, Roman B. Oparin, Alexander N. Petrin, Oleg V. Evgrafov

Am J Hum Genet. 2000 Jul; 67(1): 37–46. Published online 2000 Jun 7. doi: 10.1086/302962

PMCID:: PMC1287099

Abstract Article PDF–322K

N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom

Luba Kalaydjieva, David Gresham, Rebecca Gooding, Lisa Heather, Frank Baas, Rosalein de Jonge, Karin Blechschmidt, Dora Angelicheva, David Chandler, Penelope Worsley, Andre Rosenthal, Rosalind H. M. King, P. K. Thomas

Am J Hum Genet. 2000 Jul; 67(1): 47–58. Published online 2000 May 30. doi: 10.1086/302978

PMCID:: PMC1287101

Abstract Article PDF–976K

Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27

Peter Ianakiev, Michael W. Kilpatrick, Iva Toudjarska, Donald Basel, Peter Beighton, Petros Tsipouras

Am J Hum Genet. 2000 Jul; 67(1): 59–66. Published online 2000 Jun 5. doi: 10.1086/302972

PMCID:: PMC1287102

Abstract Article PDF–944K

Two Genetic Loci Regulate T Cell–Dependent Islet Inflammation and Drive Autoimmune Diabetes Pathogenesis

Casey J. Fox, Andrew D. Paterson, Steven M. Mortin-Toth, Jayne S. Danska

Am J Hum Genet. 2000 Jul; 67(1): 67–81. Published online 2000 Jun 9. doi: 10.1086/302995

PMCID:: PMC1287103

Abstract Article PDF–1.2M

Evidence for a Prostate Cancer–Susceptibility Locus on Chromosome 20

Rebecca Berry, Jennifer J. Schroeder, Amy J. French, Shannon K. McDonnell, Brett J. Peterson, Julie M. Cunningham, Stephen N. Thibodeau, Daniel J. Schaid

Am J Hum Genet. 2000 Jul; 67(1): 82–91. Published online 2000 May 16. doi: 10.1086/302994

PMCID:: PMC1287105

Abstract Article PDF–217K

Genomewide Scan for Prostate Cancer–Aggressiveness Loci

John S. Witte, Katrina A. B. Goddard, David V. Conti, Robert C. Elston, Jennifer Lin, Brian K. Suarez, Karl W. Broman, James K. Burmester, James L. Weber, William J. Catalona

Am J Hum Genet. 2000 Jul; 67(1): 92–99. Published online 2000 May 24. doi: 10.1086/302960

PMCID:: PMC1287106

Abstract Article PDF–243K

A Genomic Scan of Families with Prostate Cancer Identifies Multiple Regions of Interest

Mark Gibbs, Janet L. Stanford, Gail P. Jarvik, Marta Janer, Michael Badzioch, Mette A. Peters, Ellen L. Goode, Suzanne Kolb, Lisa Chakrabarti, Morgan Shook, Ryan Basom, Elaine A. Ostrander, Leroy Hood

Am J Hum Genet. 2000 Jul; 67(1): 100–109. Published online 2000 May 19. doi: 10.1086/302969

PMCID:: PMC1287067

Abstract Article PDF–1.1M

Segregation Analysis of Esophageal Cancer in a Moderately High–Incidence Area of Northern China

Weihua Zhang, Joan E. Bailey-Wilson, Weidong Li, Xiuqin Wang, Chunlin Zhang, Xuezheng Mao, Zhihua Liu, Chuannong Zhou, Min Wu

Am J Hum Genet. 2000 Jul; 67(1): 110–119. Published online 2000 Jun 6. doi: 10.1086/302970

PMCID:: PMC1287069

Abstract Article PDF–186K

Comparison of Tests for Association and Linkage in Incomplete Families

A. C. L. Cervino, A. V. S. Hill

Am J Hum Genet. 2000 Jul; 67(1): 120–132. Published online 2000 Jun 6. doi: 10.1086/302992

PMCID:: PMC1287070

Abstract Article PDF–329K

Data Mining Applied to Linkage Disequilibrium Mapping

Hannu T. T. Toivonen, Päivi Onkamo, Kari Vasko, Vesa Ollikainen, Petteri Sevon, Heikki Mannila, Mathias Herr, Juha Kere

Am J Hum Genet. 2000 Jul; 67(1): 133–145. Published online 2000 Jun 9. doi: 10.1086/302954

PMCID:: PMC1287071

Abstract Article PDF–352K

A Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test

Eden R. Martin, Stephanie A. Monks, Liling L. Warren, Norman L. Kaplan

Am J Hum Genet. 2000 Jul; 67(1): 146–154. Published online 2000 May 23. doi: 10.1086/302957

PMCID:: PMC1287073

Abstract Article PDF–198K

Bayesian Fine-Scale Mapping of Disease Loci, by Hidden Markov Models

A. P. Morris, J. C. Whittaker, D. J. Balding

Am J Hum Genet. 2000 Jul; 67(1): 155–169. Published online 2000 Jun 1. doi: 10.1086/302956

PMCID:: PMC1287074

Abstract Article PDF–960K

Association Mapping in Structured Populations

Jonathan K. Pritchard, Matthew Stephens, Noah A. Rosenberg, Peter Donnelly

Am J Hum Genet. 2000 Jul; 67(1): 170–181. Published online 2000 May 26. doi: 10.1086/302959

PMCID:: PMC1287075

Abstract Article PDF–253K

A Short Tandem Repeat–Based Phylogeny for the Human Y Chromosome

Peter Forster, Arne Röhl, Petra Lünnemann, Catrin Brinkmann, Tatiana Zerjal, Chris Tyler-Smith, Bernd Brinkmann

Am J Hum Genet. 2000 Jul; 67(1): 182–196. Published online 2000 May 25. doi: 10.1086/302953

PMCID:: PMC1287076

Abstract Article PDF–265K

Reports

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Frances R. Goodman, Chiara Bacchelli, Angela F. Brady, Louise A. Brueton, Jean-Pierre Fryns, Douglas P. Mortlock, Jeffrey W. Innis, Lewis B. Holmes, Alan E. Donnenfeld, Murray Feingold, Frits A. Beemer, Raoul C. M. Hennekam, Peter J. Scambler

Am J Hum Genet. 2000 Jul; 67(1): 197–202. Published online 2000 Jun 5. doi: 10.1086/302961

PMCID:: PMC1287077

Abstract Article PDF–486K

High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase

Kirstine Ravn, Maja Chloupkova, Ernst Christensen, Niels Jacob Brandt, Henrik Simonsen, Jan P. Kraus, Inge Merete Nielsen, Flemming Skovby, Marianne Schwartz

Am J Hum Genet. 2000 Jul; 67(1): 203–206. Published online 2000 May 16. doi: 10.1086/302971

PMCID:: PMC1287078

Abstract Article PDF–362K

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

The BRCA1 Exon 13 Duplication Screening Group

Am J Hum Genet. 2000 Jul; 67(1): 207–212. Published online 2000 May 25.

PMCID:: PMC1287079

Abstract Article PDF–180K

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21

Y. J. Crow, A. P. Jackson, E. Roberts, E. van Beusekom, P. Barth, P. Corry, C. D. Ferrie, B. C. J. Hamel, R. Jayatunga, G. Karbani, R. Kálmánchey, A. Kelemen, M. King, R. Kumar, J. Livingstone, R. Massey, R. McWilliam, A. Meager, C. Rittey, J. B. P. Stephenson, J. L. Tolmie, A. Verrips, T. Voit, H. van Bokhoven, H. G. Brunner, C. G. Woods

Am J Hum Genet. 2000 Jul; 67(1): 213–221. Published online 2000 May 25. doi: 10.1086/302955

PMCID:: PMC1287108

Abstract Article PDF–324K

Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype

Christine Bétard, Andrée Rasquin-Weber, Carl Brewer, Eric Drouin, Suzanne Clark, Andrei Verner, Corinne Darmond-Zwaig, Julie Fortin, Jocelyne Mercier, Pierre Chagnon, T. Mary Fujiwara, Kenneth Morgan, Andrea Richter, Thomas J. Hudson, Grant A. Mitchell

Am J Hum Genet. 2000 Jul; 67(1): 222–228. Published online 2000 May 11. doi: 10.1086/302993

PMCID:: PMC1287080

Abstract Article PDF–347K

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice

Am J Hum Genet. 2000 Jul; 67(1): 229–235. Published online 2000 May 11. doi: 10.1086/302958

PMCID:: PMC1287081

Abstract Article PDF–276K

Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene

Valérie Delague, Corinne Bareil, Sylvie Tuffery, Patrice Bouvagnet, Eliane Chouery, Salam Koussa, Thierry Maisonobe, Jacques Loiselet, André Mégarbané, Mireille Claustres

Am J Hum Genet. 2000 Jul; 67(1): 236–243. Published online 2000 Jun 2. doi: 10.1086/302980