Volume 71; Issue 5

The American Journal of Human Genetics

Volume 71; Issue 5

1

Announcements

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 32 KB

english, 2002

2

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

3

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

4

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

5

In Search of Geographical Patterns in European Mitochondrial DNA

Martin Richards, Vincent Macaulay, Antonio Torroni, Hans-Jürgen Bandelt

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 834 KB

english, 2002

6

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cor

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 741 KB

english, 2002

7

Evaluating the Results of Genomewide Linkage Scans of Complex Traits by Locus Counting

Steven Wiltshire, Lon R. Cardon, Mark I. McCarthy

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 366 KB

english, 2002

8

Genetic, Linguistic and Archaeological Perspectives on Human Diversity in Southeast Asia

Lluís Quintana-Murci

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

9

RNA Binding Proteins: New Concepts in Gene Regulation

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

10

Upward Bias in Estimation of Genetic Effects

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 84 KB

english, 2002

11

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

Raidah Al-Baradie, Koki Yamada, Cynthia St. Hilaire, Wai-Man Chan, Caroline Andrews, Nathalie McIntosh, Motoi Nakano, E. Jean Martonyi, William R. Raymond, Sada Okumura, Michael M. Okihiro, Elizabeth

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 526 KB

english, 2002

12

Genomewide Linkage Analysis of Body Mass Index across 28 Years of the Framingham Heart Study

Larry D. Atwood, Nancy L. Heard-Costa, L. Adrienne Cupples, Cashell E. Jaquish, Peter W.F. Wilson, Ralph B. D’Agostino

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 546 KB

english, 2002

13

Griscelli Syndrome Types 1 and 2

Gaël Ménasché, Alain Fischer, Geneviève de Saint Basile

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

14

Reply to Ménasché et al.

Marjan Huizing, Y. Anikster, W.A. Gahl

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

15

Family-Based Association Tests Incorporating Parental Genotypes

Peter Kraft, Melissa Wilson

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

16

Regarding “Parental Genotypes in the Risk of a Complex Disease”

Clarice R. Weinberg, Laura Mitchell

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 54 KB

english, 2002

17

Reply to Comments by Kraft and Wilson and by Weinberg and Mitchell on “Parental Genotypes in the Risk of a Complex Disease”

Damian Labuda, Maja Krajinovic, Audrey Sabbagh, Claire Infante-Rivard, Daniel Sinnett

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

18

Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?

Andrew H. Crosby, Christos Proukakis

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

19

Partition-Ligation–Expectation-Maximization Algorithm for Haplotype Inference with Single-Nucleotide Polymorphisms

Zhaohui S. Qin, Tianhua Niu, Jun S. Liu

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 161 KB

english, 2002

20

Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy

Alessandra Rampazzo, Andrea Nava, Sandro Malacrida, Giorgia Beffagna, Barbara Bauce, Valeria Rossi, Rosanna Zimbello, Barbara Simionati, Cristina Basso, Gaetano Thiene, Jeffrey A. Towbin, Gian A. Dani

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 635 KB

english, 2002

21

Maternal Genetic Effects, Exerted by Genes Involved in Homocysteine Remethylation, Influence the Risk of Spina Bifida

Marie-Therese Doolin, Sandrine Barbaux, Maeve McDonnell, Katy Hoess, Alexander S. Whitehead, Laura E. Mitchell

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

22

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

Evan Reid, Mark Kloos, Allison Ashley-Koch, Lori Hughes, Simon Bevan, Ingrid K. Svenson, Felicia Lennon Graham, Perry C. Gaskell, Andrew Dearlove, Margaret A. Pericak-Vance, David C. Rubinsztein, Doug

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 342 KB

english, 2002

23

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 30 KB

english, 2002

24

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

Donna S. Mackay, Olivera B. Boskovska, Harry L.S. Knopf, Kirsten J. Lampi, Alan Shiels

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 436 KB

english, 2002

25

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects: Report of the Birth Defects Research Group

Lawrence C. Brody, Mary Conley, Christopher Cox, Peadar N. Kirke, Mary P. McKeever, James L. Mills, Anne M. Molloy, Valerie B. O’Leary, Anne Parle-McDermott, John M. Scott, Deborah A. Swanson

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 162 KB

english, 2002

26

The DNA-Based Structure of Human Chromosome 5 in Interphase

Johannes Lemke, Jan Claussen, Susanne Michel, Ilse Chudoba, Peter Mühlig, Martin Westermann, Karl Sperling, Nikolai Rubtsov, Ulrich-Walter Grummt, Peter Ullmann, Katrin Kromeyer-Hauschild, Thomas Lieh

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 602 KB

english, 2002

27

Alcohol Dehydrogenase and Alcohol Dependence: Variation in Genotype-Associated Risk between Populations

John B. Whitfield

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 68 KB

english, 2002

28

Reply to Whitfield

Kenneth K. Kidd, Michael V. Osier, Andrew J. Pakstis, Judith R. Kidd

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 49 KB

english, 2002

29

A Major Susceptibility Locus for Systemic Lupus Erythemathosus Maps to Chromosome 1q31

Bo Johanneson, Guadalupe Lima, Jenny von Salomé, Donato Alarcón-Segovia, Marta E. Alarcón-Riquelme

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 349 KB

english, 2002

30

Using All Alleles in the Multiallelic Versions of the SDT and Combined SDT/TDT

Wendy Czika, Jack J. Berry

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

31

Detecting Polymorphisms and Mutations in Candidate Genes

Julianne S. Collins, Charles E. Schwartz

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

32

Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD

Brian C. Verrelli, John H. McDonald, George Argyropoulos, Giovanni Destro-Bisol, Alain Froment, Anthi Drousiotou, Gerard Lefranc, Ahmed N. Helal, Jacques Loiselet, Sarah A. Tishkoff

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.45 MB

english, 2002

33

Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2

Christine J. Shaw, Weimin Bi, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 497 KB

english, 2002

34

Haplotype Inference in Random Population Samples

Shin Lin, David J. Cutler, Michael E. Zwick, Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 743 KB

english, 2002

35

The Making of the African mtDNA Landscape

Antonio Salas, Martin Richards, Tomás De la Fe, María-Victoria Lareu, Beatriz Sobrino, Paula Sánchez-Diz, Vincent Macaulay, Ángel Carracedo

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.82 MB

english, 2002

36

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Edgar Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T.F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans C. Hennies, Peter Nürnberg, Frie

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 925 KB

english, 2002

37

Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia

John A. Crolla, Veronica van Heyningen

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 829 KB

english, 2002

38

The Fingerprint of Phantom Mutations in Mitochondrial DNA Data

Hans-Jürgen Bandelt, Lluís Quintana-Murci, Antonio Salas, Vincent Macaulay

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 881 KB

english, 2002

39

Distribution of Recombination Crossovers and the Origin of Haplotype Blocks: The Interplay of Population History, Recombination, and Mutation

Ning Wang, Joshua M. Akey, Kun Zhang, Ranajit Chakraborty, Li Jin

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 414 KB

english, 2002

40

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 42 KB

english, 2002

41

Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly

Jeffrey E. Ming, Maximilian Muenke

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.01 MB

english, 2002

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