Volume 71; Issue 2

The American Journal of Human Genetics

Volume 71; Issue 2

1

Announcements

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 40 KB

english, 2002

2

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 20 KB

english, 2002

3

A Note on the Calculation of Empirical P Values from Monte Carlo Procedures

B.V. North, D. Curtis, P.C. Sham

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

4

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 289 KB

english, 2002

5

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

L.M. Astuto, J.M. Bork, M.D. Weston, J.W. Askew, R.R. Fields, D.J. Orten, S.J. Ohliger, S. Riazuddin, R.J. Morell, S. Khan, S. Riazuddin, H. Kremer, P. van Hauwe, C.G. Moller, C. W.R.J. Cremers, C. Ay

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.52 MB

english, 2002

6

Absence of Age Effect on Meiotic Recombination between Human X and Y Chromosomes

Qinghua Shi, Elizabeth Spriggs, L. Leigh Field, Alfred Rademaker, Evelyn Ko, Leona Barclay, Renée H. Martin

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

7

Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees

Pak C. Sham, Shaun Purcell, Stacey S. Cherny, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 706 KB

english, 2002

8

Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

Iris Schrijver, Wanguo Liu, Raanan Odom, Thomas Brenn, Peter Oefner, Heinz Furthmayr, Uta Francke

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 888 KB

english, 2002

9

Species Differences in TSIX/Tsix Reveal the Roles of These Genes in X-Chromosome Inactivation

Barbara R. Migeon, Catherine H. Lee, Ashis K. Chowdhury, Heather Carpenter

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 380 KB

english, 2002

10

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

Yair Anikster, Marjan Huizing, Paul D. Anderson, Diana L. Fitzpatrick, Aharon Klar, Eva Gross-Kieselstein, Yackov Berkun, Gila Shazberg, William A. Gahl, Haggit Hurvitz

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 315 KB

english, 2002

11

A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3

Vivian Chan, Gardian C.Y. Fong, Keith D.K. Luk, Ben Yip, Miu-Kuen Lee, Man-Sim Wong, David D.S. Lu, Tai-Kwong Chan

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.47 MB

english, 2002

12

Genetic Isolates in East Asia: A Study of Linkage Disequilibrium in the X Chromosome

T. Katoh, S. Mano, T. Ikuta, B. Munkhbat, K. Tounai, H. Ando, N. Munkhtuvshin, T. Imanishi, H. Inoko, G. Tamiya

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 704 KB

english, 2002

13

Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

Sabrina Giglio, Vladimiro Calvari, Giuliana Gregato, Giorgio Gimelli, Silvia Camanini, Roberto Giorda, Angela Ragusa, Silvana Guerneri, Angelo Selicorni, Marcus Stumm, Holger Tonnies, Mario Ventura, M

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 481 KB

english, 2002

14

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 31 KB

english, 2002

15

Response to Epstein et al.

Paul R. Burton, Lyle J. Palmer, Kevin J. Keen, Jane M. Olson, Robert C. Elston

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 327 KB

english, 2002

16

Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping

Timothy W. Hefferon, Fiona C. Broackes-Carter, Ann Harris, Garry R. Cutting

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 611 KB

english, 2002

17

A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements

Jeremy S. Myers, Bethaney J. Vincent, Hunt Udall, W. Scott Watkins, Tammy A. Morrish, Gail E. Kilroy, Gary D. Swergold, Jurgen Henke, Lotte Henke, John V. Moran, Lynn B. Jorde, Mark A. Batzer

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 512 KB

english, 2002

18

Testing for Population Subdivision and Association in Four Case-Control Studies

Kristin G. Ardlie, Kathryn L. Lunetta, Mark Seielstad

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 198 KB

english, 2002

19

Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia

Olga A. Derbeneva, Rem I. Sukernik, Natalia V. Volodko, Seyed H. Hosseini, Marie T. Lott, Douglas C. Wallace

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.46 MB

english, 2002

20

SNPs at the 3′ End of the Angiotensinogen Gene Define Two Haplotypes Associated with the Common 235Met Variant

S. Plummer, L. Morgan, N. Kalsheker

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

21

Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I

Brook Brouha, Christof Meischl, Eric Ostertag, Martin de Boer, Yue Zhang, Herman Neijens, Dirk Roos, Haig H. Kazazian

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 598 KB

english, 2002

22

Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia

Richard E. Straub, Yuxin Jiang, Charles J. MacLean, Yunlong Ma, Bradley T. Webb, Maxim V. Myakishev, Carole Harris-Kerr, Brandon Wormley, Hannah Sadek, Bharat Kadambi, Anthony J. Cesare, Avi Gibberman

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 691 KB

english, 2002

23

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G. Jacobson, Bernd Wissinger

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 255 KB

english, 2002

24

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

Stefan White, Margot Kalf, Qiang Liu, Michel Villerius, Dieuwke Engelsma, Marjolein Kriek, Ellen Vollebregt, Bert Bakker, Gert-Jan B. van Ommen, Martijn H. Breuning, Johan T. den Dunnen

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 888 KB

english, 2002

25

A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer

Pia Vahteristo, Jirina Bartkova, Hannaleena Eerola, Kirsi Syrjäkoski, Salla Ojala, Outi Kilpivaara, Anitta Tamminen, Juha Kononen, Kristiina Aittomäki, Päivi Heikkilä, Kaija Holli, Carl Blomqvist, Jir

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 483 KB

english, 2002

26

Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families

Mary L. Marazita, L. Leigh Field, Margaret E. Cooper, Rose Tobias, Brion S. Maher, Supakit Peanchitlertkajorn, You-e Liu

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 3.07 MB

english, 2002

27

Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

Hildegard Kehrer-Sawatzki, Bettina Schreiner, Simone Tänzer, Matthias Platzer, Stefan Müller, Horst Hameister

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.06 MB

english, 2002

28

Regression-Based Quantitative-Trait–Locus Mapping in the 21st Century

Eleanor Feingold

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

29

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 24 KB

english, 2002

30

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

31

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Giuseppe Novelli, Antoine Muchir, Federica Sangiuolo, Anne Helbling-Leclerc, Maria Rosaria D’Apice, Catherine Massart, Francesca Capon, Paolo Sbraccia, Massimo Federici, Renato Lauro, Cosimo Tudisco,

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.38 MB

english, 2002

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