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Volume 71; Issue 4

The American Journal of Human Genetics

Volume 71; Issue 4

1

Quantitative Trait Loci: Methods and Protocols

Jill Barnholtz-Sloan

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 27 KB

english, 2002

2

What it Means to Be 98% Chimpanzee: Apes, People, and Their Genes

Lorena Madrigal

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 32 KB

english, 2002

3

Erratum

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 19 KB

english, 2002

4

Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase

Nicola Brunetti-Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria, Giancarlo Parenti

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 575 KB

english, 2002

5

Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12

Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 721 KB

english, 2002

6

Predictors of the Risk of Mortality in Neurofibromatosis 2

Michael E. Baser, J.M. Friedman, Dana Aeschliman, Harry Joe, Andrew J. Wallace, Richard T. Ramsden, D. Gareth R. Evans

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 611 KB

english, 2002

7

Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations

Taketoshi Yoshida, Hirokazu Kanegane, Motomi Osato, Masatoshi Yanagida, Toshio Miyawaki, Yoshiaki Ito, Katsuya Shigesada

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2002

8

Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients

Sandra L. Dabora, Penelope Roberts, Andres Nieto, Ron Perez, Sergiusz Jozwiak, David Franz, John Bissler, Elizabeth A. Thiele, Katherine Sims, David J. Kwiatkowski

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 154 KB

english, 2002

9

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B. Romero, Jea

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 497 KB

english, 2002

10

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Mari Auranen, Raija Vanhala, Teppo Varilo, Kristin Ayers, Elli Kempas, Tero Ylisaukko-oja, Janet S. Sinsheimer, Leena Peltonen, Irma Järvelä

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 2.09 MB

english, 2002

11

Human Diallelic Insertion/Deletion Polymorphisms

James L. Weber, Donna David, Jeremy Heil, Ying Fan, Chengfeng Zhao, Gabor Marth

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 227 KB

english, 2002

12

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Ken Inoue, Hitoshi Osaka, Virginia C. Thurston, Joe T.R. Clarke, Akira Yoneyama, Lisa Rosenbarker, Thomas D. Bird, M.E. Hodes, Lisa G. Shaffer, James R. Lupski

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 2.37 MB

english, 2002

13

Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine

Yuri E. Dubrova, Gemma Grant, Anatoliy A. Chumak, Vasyl A. Stezhka, Angela N. Karakasian

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 801 KB

english, 2002

14

Neocentromeres: Role in Human Disease, Evolution, and Centromere Study

David J. Amor, K.H. Andy Choo

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1.89 MB

english, 2002

15

SPINK1 Is a Susceptibility Gene for Fibrocalculous Pancreatic Diabetes in Subjects from the Indian Subcontinent

Zahid Hassan, Viswananthan Mohan, Liaquat Ali, Rebecca Allotey, Khalid Barakat, M. Omar Faruque, Raj Deepa, Michael F. McDermott, Alan E. Jackson, Paul Cassell, David Curtis, Susan V. Gelding, Shanti

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 91 KB

english, 2002

16

Genetic Linkage of Attention-Deficit/Hyperactivity Disorder on Chromosome 16p13, in a Region Implicated in Autism

Susan L. Smalley, Vlad Kustanovich, Sonia L. Minassian, Jennifer L. Stone, Matthew N. Ogdie, James J. McGough, James T. McCracken, I. Laurence MacPhie, Clyde Francks, Simon E. Fisher, Rita M. Cantor,

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 105 KB

english, 2002

17

Erratum

Journal:

The American Journal of Human Genetics

Année:

2002

Fichier:

PDF, 17 KB

2002

18

Neuregulin 1 and Susceptibility to Schizophrenia

Hreinn Stefansson, Hannes Petursson, Engilbert Sigurdsson, Valgerdur Steinthorsdottir, Soley Bjornsdottir, Thordur Sigmundsson, Shyamali Ghosh, Jon Brynjolfsson, Steinunn Gunnarsdottir, Omar Ivarsson,

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 2.31 MB

english, 2002

19

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna L. Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 826 KB

english, 2002

20

A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease

Paola Griseri, Barbara Pesce, Giovanna Patrone, Jan Osinga, Francesca Puppo, Monica Sancandi, Robert Hofstra, Giovanni Romeo, Roberto Ravazzolo, Marcella Devoto, Isabella Ceccherini

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 233 KB

english, 2002

21

A Novel Founder Mutation in the RNASEL Gene, 471delAAAG, Is Associated with Prostate Cancer in Ashkenazi Jews

Hanna Rennert, Dani Bercovich, Ayala Hubert, Dvora Abeliovich, Uri Rozovsky, Anat Bar-Shira, Sonya Soloviov, Letizia Schreiber, Haim Matzkin, Gad Rennert, Luna Kadouri, Tamar Peretz, Yuval Yaron, Avi

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 414 KB

english, 2002

22

The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21

Nazneen Rahman, Melanie Dunstan, M. Dawn Teare, Sandra Hanks, Sarah J. Edkins, Jaime Hughes, Graham R. Bignell, Grazia Mancini, Wim Kleijer, Mary Campbell, Gokhan Keser, Carol Black, Nigel Williams, L

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2002

23

Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4-CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex

Erwin K. Chung, Yan Yang, Robert M. Rennebohm, Marja-Liisa Lokki, Gloria C. Higgins, Karla N. Jones, Bi Zhou, Carol A. Blanchong, C. Yung Yu

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 634 KB

english, 2002

24

Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 in a Major Histocompatibility Complex Haplotype Encoding C4A or C4B Proteins

Erwin K. Chung, Yan Yang, Kristi L. Rupert, Karla N. Jones, Robert M. Rennebohm, Carol A. Blanchong, C. Yung Yu

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 554 KB

english, 2002

25

Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure

Sjoerd Repping, Helen Skaletsky, Julian Lange, Sherman Silber, Fulco van der Veen, Robert D. Oates, David C. Page, Steve Rozen

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 2.41 MB

english, 2002

26

A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search

Andrea Angius, Enrico Petretto, Giovanni Battista Maestrale, Paola Forabosco, Giuseppina Casu, Daniela Piras, Manuela Fanciulli, Mario Falchi, Paola Maria Melis, Mario Palermo, Mario Pirastu

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2002

27

Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome

Bradford Coffee, Fuping Zhang, Stephanie Ceman, Stephen T. Warren, Daniel Reines

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 403 KB

english, 2002

28

High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex

Michael Cullen, Stephen P. Perfetto, William Klitz, George Nelson, Mary Carrington

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 945 KB

english, 2002

29

Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia

Jason A. Watts, Michael Morley, Joshua T. Burdick, Jennifer L. Fiori, Warren J. Ewens, Richard S. Spielman, Vivian G. Cheung

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 525 KB

english, 2002

30

On the Twin Risk in Autism

Joachim Hallmayer, Emma J. Glasson, Carol Bower, Beverly Petterson, Lisa Croen, Judith Grether, Neil Risch

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 83 KB

english, 2002

31

Increased Rate of Twins among Affected Sib Pairs

Peter M. Visscher

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 52 KB

english, 2002

32

Response to Visscher

Susan E. Hodge, David A. Greenberg, Catalina Betancur, Christopher Gillberg

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 64 KB

english, 2002

33

Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH

Charlene J. Williams, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R. Graham G. Russell, B. Paul Wo

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 2.34 MB

english, 2002

34

Mutations in ANKH Cause Chondrocalcinosis

Adrian Pendleton, Michelle D. Johnson, Anne Hughes, Kyle A. Gurley, Andrew M. Ho, Michael Doherty, Josh Dixey, Pierre Gillet, Damien Loeuille, Rodney McGrath, Antonio Reginato, Rita Shiang, Gary Wrigh

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 753 KB

english, 2002

35

Erratum

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 19 KB

english, 2002

36

Announcements

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 49 KB

english, 2002

37

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 44 KB

english, 2002

38

Caution on Pedigree Haplotype Inference with Software That Assumes Linkage Equilibrium

Daniel J. Schaid, Shannon K. McDonnell, Liang Wang, Julie M. Cunningham, Stephen N. Thibodeau

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 58 KB

english, 2002