Volume 72; Issue 4

The American Journal of Human Genetics

Volume 72; Issue 4

1

Resolving ATM Haplotypes in Whites

Richard Letrero, Barbara L. Weber, Katherine L. Nathanson

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 99 KB

english, 2003

2

Genetic Evidence for Interaction of the 5q31 Cytokine Locus and the CARD15 Gene in Crohn Disease

Muddassar M. Mirza, Sheila A. Fisher, Kathy King, Andrew P. Cuthbert, Jochen Hampe, Jeremy Sanderson, John Mansfield, Peter Donaldson, J.S. Andrew Macpherson, Alastair Forbes, Stefan Schreiber, M. Cat

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 334 KB

english, 2003

3

On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit

Jung-Ying Tzeng, B. Devlin, Larry Wasserman, Kathryn Roeder

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 670 KB

english, 2003

4

Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

Neil Risch, Hua Tang, Howard Katzenstein, Josef Ekstein

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

5

Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

Dong-Hui Chen, Zoran Brkanac, L.M.J. Christophe Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez, P.J. Cimino, D. Thomas Bird, Wendy H

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 806 KB

english, 2003

6

Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation

Antonio Torroni, Yolanda Campos, Chiara Rengo, Daniele Sellitto, Alessandro Achilli, Chiara Magri, Ornella Semino, Alberto García, Pilar Jara, Joaquín Arenas, Rosaria Scozzari

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

7

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Joelle M. van der Walt, Kristin K. Nicodemus, Eden R. Martin, William K. Scott, Martha A. Nance, Ray L. Watts, Jean P. Hubble, Jonathan L. Haines, William C. Koller, Kelly Lyons, Rajesh Pahwa, Matthew

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 701 KB

english, 2003

8

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Hans R. Waterham, Janet Koster, Petra Mooyer, Gerard van Noort, Richard I. Kelley, William R. Wilcox, J.A. Ronald Wanders, C.M. Raoul Hennekam, C. Jan Oosterwijk

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 256 KB

english, 2003

9

ATLAS: A System to Selectively Identify Human-Specific L1 Insertions

Richard M. Badge, Reid S. Alisch, John V. Moran

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.02 MB

english, 2003

10

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Dessislava Markova, Yaqun Zou, Franziska Ringpfeil, Takako Sasaki, Günter Kostka, Rupert Timpl, Jouni Uitto, Mon-Li Chu

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 368 KB

english, 2003

11

Evidence for a Gene Influencing Serum Bilirubin on Chromosome 2q Telomere: A Genomewide Scan in the Framingham Study

Jing-Ping Lin, L. Adrienne Cupples, Peter W. F. Wilson, Nancy Heard-Costa, Christopher J. O’Donnell

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 440 KB

english, 2003

12

Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer Susceptibility

Mieke Schutte, Sheila Seal, Rita Barfoot, Hanne Meijers-Heijboer, Marijke Wasielewski, D. Gareth Evans, Diana Eccles, Carel Meijers, Frans Lohman, Jan Klijn, Ans van den Ouweland, P. Andrew Futreal, K

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 410 KB

english, 2003

13

Genome Association Studies of Complex Diseases by Case-Control Designs

Ruzong Fan, Michael Knapp

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 3.85 MB

english, 2003

14

Rapid Direct Sequence Analysis of the Dystrophin Gene

Kevin M. Flanigan, Andrew von Niederhausern, Diane M. Dunn, Jonathan Alder, Jerry R. Mendell, Robert B. Weiss

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 313 KB

english, 2003

15

Combined Analysis of Genome Scans of Dutch and Finnish Families Reveals a Susceptibility Locus for High-Density Lipoprotein Cholesterol on Chromosome 16q

Päivi Pajukanta, Hooman Allayee, Kelly L. Krass, Ali Kuraishy, Aino Soro, Heidi E. Lilja, Rebecca Mar, Marja-Riitta Taskinen, Ilpo Nuotio, Markku Laakso, Jerome I. Rotter, W.A. de Bruin Tjerk, M. Rita

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 777 KB

english, 2003

16

Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci That Influence Variation in the Human Personality Trait Neuroticism

Jan Fullerton, Matthew Cubin, Hemant Tiwari, Chenxi Wang, Amarjit Bomhra, Stuart Davidson, Sue Miller, Christopher Fairburn, Guy Goodwin, Michael C. Neale, Simon Fiddy, Richard Mott, David B. Allison,

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.22 MB

english, 2003

17

Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 444 KB

english, 2003

18

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

Jan Hellemans, Paul J. Coucke, Andres Giedion, Anne De Paepe, Peter Kramer, Frits Beemer, Geert R. Mortier

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.43 MB

english, 2003

19

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz, Mark D. Reller, Melanie A. Jones, Robert D. Steiner, Cheryl L. Maslen

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 368 KB

english, 2003

20

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Carlos Cardoso, Richard J. Leventer, Heather L. Ward, Kazuhito Toyo-oka, June Chung, Alyssa Gross, Christa L. Martin, Judith Allanson, Daniela T. Pilz, Ann H. Olney, Osvaldo M. Mutchinick, Shinji Hiro

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.49 MB

english, 2003

21

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Sébastien Jacquemont, Randi J. Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W. Ted B

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 426 KB

english, 2003

22

Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002)

Nelson B. Freimer, Peter Heutink, Cisca Wijmenga

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 138 KB

english, 2003

23

Estimation and Testing of Parent-of-Origin Effects for Quantitative Traits

John C. Whittaker, Neda Gharani, Peter Hindmarsh, Mark I. McCarthy

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 75 KB

english, 2003

24

Significant Linkage of Parkinson Disease to Chromosome 2q36-37

Nathan Pankratz, William C. Nichols, Sean K. Uniacke, Cheryl Halter, Alice Rudolph, Cliff Shults, P. Michael Conneally, Tatiana Foroud

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 358 KB

english, 2003

25

Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations

Martin Richards, Chiara Rengo, Fulvio Cruciani, Fiona Gratrix, James F. Wilson, Rosaria Scozzari, Vincent Macaulay, Antonio Torroni

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

26

Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage

Fengmin Lu, J.D. Jennifer Morrissette, Nancy B. Spinner

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 452 KB

english, 2003

27

Deletion of the Telomerase Reverse Transcriptase Gene and Haploinsufficiency of Telomere Maintenance in Cri du Chat Syndrome

Anju Zhang, Chengyun Zheng, Mi Hou, Charlotta Lindvall, Ke-Jun Li, Fredrik Erlandsson, Magnus Björkholm, Astrid Gruber, Elisabeth Blennow, Dawei Xu

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.65 MB

english, 2003

28

Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe the Effects of Splicing Mutations on Translated and Untranslated Messenger RNA

Sarah J. Rickard, Louise C. Wilson

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.06 MB

english, 2003

29

Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk

Shih-Jen Hwang, Guillermina Lozano, Christopher I. Amos, Louise C. Strong

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 707 KB

english, 2003

30

Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs

Jian Huang, Yanming Jiang

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.51 MB

english, 2003

31

Erratum

Journal:

The American Journal of Human Genetics

Year:

2003

File:

PDF, 16 KB

2003

32

Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E

David Johnson, Shih-hsin Kan, Michael Oldridge, Richard C. Trembath, Philippe Roche, Robert M. Esnouf, Henk Giele, O.M. Andrew Wilkie

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.04 MB

english, 2003

33

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 46 KB

english, 2003

34

Announcements

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 44 KB

english, 2003

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски