Volume 70; Issue 2

The American Journal of Human Genetics

Volume 70; Issue 2

1

Erratum

Journal:

The American Journal of Human Genetics

Year:

2002

File:

PDF, 14 KB

2002

2

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse

Hanlin Gao, Rose-Mary N. Boustany, Janice A. Espinola, Susan L. Cotman, Lakshmi Srinidhi, Kristen Auger Antonellis, Tammy Gillis, Xuebin Qin, Shumei Liu, Leah R. Donahue, Roderick T. Bronson, Jerry R.

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.24 MB

english, 2002

3

Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds

Capucine Picard, Claire Fieschi, Frédéric Altare, Suliman Al-Jumaah, Sami Al-Hajjar, Jacqueline Feinberg, Stéphanie Dupuis, Claire Soudais, Ibrahim Zaid Al-Mohsen, Emmanuelle Génin, David Lammas, Dina

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 716 KB

english, 2002

4

A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians

Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M. Walker, Paul K. Lovelock, David Good, Heather Tate, Denise Watego, Maureen Marczak, Noel Hayman, Joanne T.E. Shaw

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.69 MB

english, 2002

5

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth, Thomas F. Wienker, Brunhilde Wirth

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 819 KB

english, 2002

6

Complex Signatures of Natural Selection at the Duffy Blood Group Locus

Martha T. Hamblin, Emma E. Thompson, Anna Di Rienzo

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.80 MB

english, 2002

7

Genomewide Search for Type 2 Diabetes Mellitus Susceptibility Loci in Finnish Families: The Botnia Study

C.M. Lindgren, M.M. Mahtani, E. Widén, M.I. McCarthy, M.J. Daly, A. Kirby, M.P. Reeve, L. Kruglyak, A. Parker, J. Meyer, P. Almgren, M. Lehto, T. Kanninen, T. Tuomi, L.C. Groop, E.S. Lander

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 517 KB

english, 2002

8

A Genomewide Scan Identifies Two Novel Loci Involved in Specific Language Impairment

The SLI Consortium

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.06 MB

english, 2002

9

Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23

David A. Good, Frances Busfield, Barbara H. Fletcher, David L. Duffy, Janine B. Kesting, John Andersen, Joanne T.E. Shaw

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.30 MB

english, 2002

10

A Score-Statistic Approach for the Mapping of Quantitative-Trait Loci with Sibships of Arbitrary Size

K. Wang, J. Huang

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 679 KB

english, 2002

11

A Statistical Method for Identification of Polymorphisms That Explain a Linkage Result

Lei Sun, Nancy J. Cox, Mary Sara McPeek

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 160 KB

english, 2002

12

Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs

Michael C. Neale, Benjamin M. Neale, Patrick F. Sullivan

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 539 KB

english, 2002

13

Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous

Daniel J. Schaid, Charles M. Rowland, David E. Tines, Robert M. Jacobson, Gregory A. Poland

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 247 KB

english, 2002

14

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth E. Williams, Sara E. Mole

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 616 KB

english, 2002

15

Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene

Andrea L. Vincent, Gail Billingsley, Yvonne Buys, Alex V. Levin, Megan Priston, Graham Trope, Donna Williams-Lyn, Elise Héon

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 484 KB

english, 2002

16

Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wallace, Michaella C. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, St

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1009 KB

english, 2002

17

Gdnf Haploinsufficiency Causes Hirschsprung-Like Intestinal Obstruction and Early-Onset Lethality in Mice

Liya Shen, José G. Pichel, Thomas Mayeli, Hannu Sariola, Bai Lu, Heiner Westphal

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 789 KB

english, 2002

18

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

Shih-hsin Kan, Navaratnam Elanko, David Johnson, Laura Cornejo-Roldan, Jackie Cook, Elsa W. Reich, Susan Tomkins, Alain Verloes, Stephen R.F. Twigg, Sahan Rannan-Eliya, Donna M. McDonald-McGinn, Elain

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 902 KB

english, 2002

19

A Perspective on Epistasis: Limits of Models Displaying No Main Effect

Robert Culverhouse, Brian K. Suarez, Jennifer Lin, Theodore Reich

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 854 KB

english, 2002

20

Evidence for Linkage of Stature to Chromosome 3p26 in a Large U.K. Family Data Set Ascertained for Type 2 Diabetes

Steven Wiltshire, Timothy M. Frayling, Andrew T. Hattersley, Graham A. Hitman, Mark Walker, Jonathan C. Levy, Stephen O'Rahilly, Christopher J. Groves, Stephan Menzel, Lon R. Cardon, Mark I. McCarthy

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

21

From Down Syndrome to the “Human” in “Human Genetics”

Charles J. Epstein

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.10 MB

english, 2002

22

Introductory Speech for Charles J. Epstein

Arno G. Motulsky

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 93 KB

english, 2002

23

On Black Boxes and Storytellers: Lessons Learned in Human Genetics

Huntington F. Willard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 410 KB

english, 2002

24

… And Know the Place for the First Time

Charles R. Scriver

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 699 KB

english, 2002

25

Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data

Julie A. Douglas, Andrew D. Skol, Michael Boehnke

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 119 KB

english, 2002

26

Detection and Integration of Genotyping Errors in Statistical Genetics

Eric Sobel, Jeanette C. Papp, Kenneth Lange

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 741 KB

english, 2002

27

A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly

Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J. Scambler

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 766 KB

english, 2002

28

Reply to Hodge et al.

Alice S. Whittemore, Jerry Halpern

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 40 KB

english, 2002

29

HLODs Remain Powerful Tools for Detection of Linkage in the Presence of Genetic Heterogeneity

Susan E. Hodge, Veronica J. Vieland, David A. Greenberg

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

30

Introductory Speech for Charles Scriver

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 183 KB

english, 2002

31

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 49 KB

english, 2002

32

Announcements

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 54 KB

english, 2002

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