Volume 71; Issue 6

The American Journal of Human Genetics

Volume 71; Issue 6

1

A Biologist’s Guide to Analysis of DNA Microarray Data

Harriet Feilotter

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 38 KB

english, 2002

2

Mapping Human History: Discovering the Past through Our Genes

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

3

Structural Analysis of Insulin Minisatellite Alleles Reveals Unusually Large Differences in Diversity between Africans and Non-Africans

John D.H. Stead, Alec J. Jeffreys

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.95 MB

english, 2002

4

A Highly Significant Association between a COMT Haplotype and Schizophrenia

Sagiv Shifman, Michal Bronstein, Meira Sternfeld, Anne Pisanté-Shalom, Efrat Lev-Lehman, Avraham Weizman, Ilya Reznik, Baruch Spivak, Nimrod Grisaru, Leon Karp, Richard Schiffer, Moshe Kotler, Rael D.

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 296 KB

english, 2002

5

Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome

Pilar Sánchez-Corral, David Pérez-Caballero, Olatz Huarte, Ari M. Simckes, Elena Goicoechea, Margarita López-Trascasa, Santiago Rodríguez de Córdoba

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 661 KB

english, 2002

6

Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 (HPC2) and Prostate Cancer

Nicola J. Camp, Sean V. Tavtigian

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 63 KB

english, 2002

7

The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

Sharon F. Suchy, Robert L. Nussbaum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 568 KB

english, 2002

8

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

Birgitt Müller, Katja Hedrich, Norman Kock, Natasa Dragasevic, Marina Svetel, Jennifer Garrels, Olfert Landt, Matthias Nitschke, Peter P. Pramstaller, Wolf Reik, Eberhard Schwinger, Jürgen Sperner, La

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 340 KB

english, 2002

9

myotilin Mutation Found in Second Pedigree with LGMD1A

Michael A. Hauser, Cecilia B. Conde, Valeria Kowaljow, Guillermo Zeppa, Ana L. Taratuto, Udana M. Torian, Jeffery Vance, Margaret A. Pericak-Vance, Marcy C. Speer, Alberto L. Rosa

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 348 KB

english, 2002

10

Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD

Lionel Groussin, Lawrence S. Kirschner, Caroline Vincent-Dejean, Karine Perlemoine, Eric Jullian, Brigitte Delemer, Sabina Zacharieva, Duarte Pignatelli, J. Aidan Carney, Jean Pierre Luton, Xavier Ber

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 913 KB

english, 2002

11

A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis

Pierre Chagnon, Jacques Michaud, Grant Mitchell, Jocelyne Mercier, Jean-François Marion, Eric Drouin, Andrée Rasquin-Weber, Thomas J. Hudson, Andrea Richter

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 464 KB

english, 2002

12

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

James S. Pankow, Michael A. Province, Steven C. Hunt, Donna K. Arnett

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 58 KB

english, 2002

13

RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility

Christina G.S. Palmer, Joni A. Turunen, Janet S. Sinsheimer, Sonia Minassian, Tiina Paunio, Jouko Lönnqvist, Leena Peltonen, J. Arthur Woodward

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 111 KB

english, 2002

14

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

File:

PDF, 18 KB

2002

15

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel, Paul Thomas, James Lespinasse, Martine Raynaud, Christine Paringaux, Hans van Bokhoven, Vera Kalscheuer, Jean-Pierre Fryns, Jamel Chelly, Claude Mo

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 267 KB

english, 2002

16

Parental Origin and Timing of De Novo Robertsonian Translocation Formation

Ruma Bandyopadhyay, Anita Heller, Cami Knox-DuBois, Christopher McCaskill, Sue Ann Berend, Scott L. Page, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 238 KB

english, 2002

17

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

O.T. Suzuki, A.L. Sertié, V.M. Der Kaloustian, F. Kok, M. Carpenter, J. Murray, A.E. Czeizel, S.E. Kliemann, S. Rosemberg, M. Monteiro, B.R. Olsen, M.R. Passos-Bueno

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 852 KB

english, 2002

18

Power and Design Considerations for a General Class of Family-Based Association Tests: Quantitative Traits

Christoph Lange, Dawn L. DeMeo, Nan M. Laird

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 448 KB

english, 2002

19

3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

Lodewijk IJlst, Ference J. Loupatty, Jos P.N. Ruiter, Marinus Duran, Willy Lehnert, Ronald J.A. Wanders

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 276 KB

english, 2002

20

Direct Detection of Insertion/Deletion Polymorphisms in an Autosomal Region by Analyzing High-Density Markers in Individual Spermatozoa

Sreemanta Pramanik, Honghua Li

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 363 KB

english, 2002

21

Male Mouse Recombination Maps for Each Autosome Identified by Chromosome Painting

Lutz Froenicke, Lorinda K. Anderson, Johannes Wienberg, Terry Ashley

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 738 KB

english, 2002

22

Multiplex Relative Risk and Estimation of the Number of Loci Underlying an Inherited Disease

Paul Schliekelman, Montgomery Slatkin

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.26 MB

english, 2002

23

Haplotype Block Structure and Its Applications to Association Studies: Power and Study Designs

Kui Zhang, Peter Calabrese, Magnus Nordborg, Fengzhu Sun

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 116 KB

english, 2002

24

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna Shalev, Tal Eidelitz-Markus, Joseph Kapelushnik, Daniel Cattan, Alexandre Pariente, Michel Tulliez, Aurore Crétien, Pierre-O

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 710 KB

english, 2002

25

Editorial Reviewers for 2002

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

26

The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

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

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

27

The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations

Calogera M. Simonaro, Robert J. Desnick, Margaret M. McGovern, Melissa P. Wasserstein, Edward H. Schuchman

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 243 KB

english, 2002

28

The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population

W.D. Foulkes, I. Thiffault, S.B. Gruber, M. Horwitz, N. Hamel, C. Lee, J. Shia, A. Markowitz, A. Figer, E. Friedman, D. Farber, C. M.T. Greenwood, J.D. Bonner, K. Nafa, T. Walsh, V. Marcus, L. Tomsho,

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.10 MB

english, 2002

29

Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function

Mona D. Shahbazian, Huda Y. Zoghbi

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

30

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

31

Announcements

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 39 KB

english, 2002

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