Volume 68; Issue 6

The American Journal of Human Genetics

Volume 68; Issue 6

1

Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity

Joseph D. Buxbaum, Jeremy M. Silverman, Christopher J. Smith, Mario Kilifarski, Jennifer Reichert, Eric Hollander, Brian A. Lawlor, Michael Fitzgerald, David A. Greenberg, Kenneth L. Davis

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 513 KB

english, 2001

2

Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma

Jianfeng Xu, Deborah A. Meyers, Carole Ober, Malcolm N. Blumenthal, Beverly Mellen, Kathleen C. Barnes, Richard A. King, Lucille A. Lester, Timothy D. Howard, Julian Solway, Carl D. Langefeld, Terri H

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.43 MB

english, 2001

3

The Power to Detect Linkage Disequilibrium with Quantitative Traits in Selected Samples

Gonçalo R. Abecasis, William O.C. Cookson, Lon R. Cardon

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.46 MB

english, 2001

4

Phylogenetic Network for European mtDNA

Saara Finnilä, Mervi S. Lehtonen, Kari Majamaa

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 2.14 MB

english, 2001

5

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

A.K. Gedeon, G.E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I.A. Glass, R. Savarirayan, W.G. Cole, D.L. Rimoin, B.G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Ge

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 915 KB

english, 2001

6

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

George E. Tiller, Vickie L. Hannig, Damon Dozier, Laura Carrel, Karrie C. Trevarthen, William R. Wilcox, Stefan Mundlos, Jonathan L. Haines, Agi K. Gedeon, Jozef Gecz

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.01 MB

english, 2001

7

Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity

Michela Malacarne, Elena Gennaro, Francesca Madia, Sarah Pozzi, Daniela Vacca, Baldassare Barone, Bernardo dalla Bernardina, Amedeo Bianchi, Paolo Bonanni, Pasquale De Marco, Antonio Gambardella, Luci

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 971 KB

english, 2001

8

Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

Miroslav Janošík, Jana Oliveriusová, Bohumila Janošíková, Jitka Sokolová, Eva Kraus, Jan P. Kraus, Viktor Kožich

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 410 KB

english, 2001

9

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

Jules G. Leroy, Raili Seppala, Marjan Huizing, George Dacremont, Helena De Simpel, Rudy N. Van Coster, Edwin Orvisky, Donna M. Krasnewich, William A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 496 KB

english, 2001

10

Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

Xiaofeng Sun, David L. Marks, Walter D. Park, Christine L. Wheatley, Vishwajeet Puri, John F. O’Brien, Daniel L. Kraft, Patrick A. Lundquist, Marc C. Patterson, Richard E. Pagano, Karen Snow

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 456 KB

english, 2001

11

Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1) Expression

Victoria H. Brophy, Rachel L. Jampsa, James B. Clendenning, Laura A. McKinstry, Gail P. Jarvik, Clement E. Furlong

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 437 KB

english, 2001

12

Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome

Eduardo Tarazona-Santos, Denise R. Carvalho-Silva, Davide Pettener, Donata Luiselli, Gian Franco De Stefano, Cristina Martinez Labarga, Olga Rickards, Chris Tyler-Smith, Sérgio D.J. Pena, Fabrício R.

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 432 KB

english, 2001

13

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

Brage Storstein Andresen, Steve F. Dobrowolski, Linda O'Reilly, Joseph Muenzer, Shawn E. McCandless, Dianne M. Frazier, Szabolcs Udvari, Peter Bross, Inga Knudsen, Rick Banas, Donald H. Chace, Paul En

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 859 KB

english, 2001

14

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

Paule Bénit, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.39 MB

english, 2001

15

Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine

Torben Gjetting, Marie Petersen, Per Guldberg, Flemming Güttler

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.00 MB

english, 2001

16

Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene

Biljana Ilkovski, Sandra T. Cooper, Kristen Nowak, Monique M. Ryan, Nan Yang, Christina Schnell, Hayley J. Durling, Laurence G. Roddick, Ian Wilkinson, Andrew J. Kornberg, Kevin J. Collins, Geoff Wall

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 2.33 MB

english, 2001

17

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Gilles Millat, Christophe Marçais, Catherine Tomasetto, Karim Chikh, Anthony H. Fensom, Klaus Harzer, David A. Wenger, K. Ohno, Marie T. Vanier

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 716 KB

english, 2001

18

The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures

Joshua M. Akey, Kun Zhang, Momiao Xiong, Peter Doris, Li Jin

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 940 KB

english, 2001

19

Evaluation of Candidate Genes in Case-Control Studies: A Statistical Method to Account for Related Subjects

S.L. Slager, D.J. Schaid

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 97 KB

english, 2001

20

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven Lagae, Christine Van Broeckhoven, Peter De Jonghe

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 799 KB

english, 2001

21

Is Breast Cancer Part of the Tumor Spectrum of Hereditary Nonpolyposis Colorectal Cancer?

H.F.A. Vasen, H. Morreau, J.W.R. Nortier

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 43 KB

english, 2001

22

Erratum

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 213 KB

english, 2001

23

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Ernst Reichenberger, Valdenize Tiziani, Shoji Watanabe, Lucy Park, Yasuyoshi Ueki, Carla Santanna, Scott T. Baur, Rita Shiang, Dorothy K. Grange, Peter Beighton, Jessica Gardner, Herman Hamersma, Sean

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 793 KB

english, 2001

24

Mitochondria and the Quality of Human Gametes

Francesco Giannelli

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 50 KB

english, 2001

25

Reply to Vasen et al.

Rodney J. Scott

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 45 KB

english, 2001

26

The Mitochondrial Gene Tree Comes of Age

Martin Richards, Vincent Macaulay

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 70 KB

english, 2001

27

The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression

Laura B.K. Herzing, Soo-Jeong Kim, Edwin H. Cook, David H. Ledbetter

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 589 KB

english, 2001

28

Announcements

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 47 KB

english, 2001

29

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 49 KB

english, 2001

30

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven, Kim M. Cecil, William S. Ball, Ton J. Degrauw, Cornelis Jakobs

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 339 KB

english, 2001

31

Equivalence between Haseman-Elston and Variance-Components Linkage Analyses for Sib Pairs

P.C. Sham, S. Purcell

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 694 KB

english, 2001

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