Volume 67; Issue 5

The American Journal of Human Genetics

Volume 67; Issue 5

1

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

2

The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease

Elisabeth H. Villavicencio, David O. Walterhouse, Philip M. Iannaccone

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 190 KB

english, 2000

3

Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome

Peter de Knijff

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 306 KB

english, 2000

4

Asymmetries in the Maternal and Paternal Genetic Histories of Colombian Populations

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

5

Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix

Allan J. Richards, David M. Baguley, John R.W. Yates, Carol Lane, Mary Nicol, Peter S. Harper, John D. Scott, Martin P. Snead

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 682 KB

english, 2000

6

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valérie Cormier-Daire, Arnold Munnich, Jean-Paul Bonnefont, Pierre Rustin, Agnès Rötig

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 250 KB

english, 2000

7

Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV

Maria T. Bassi, Marta Manzoni, Eugenio Monti, Maria T. Pizzo, Andrea Ballabio, Giuseppe Borsani

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.71 MB

english, 2000

8

Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9

Anil K. Lalwani, Jayne A. Goldstein, Michael J. Kelley, William Luxford, Caley M. Castelein, Anand N. Mhatre

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 721 KB

english, 2000

9

Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

Cécile Cazeneuve, Hasmik Ajrapetyan, Stéphanie Papin, Françoise Roudot-Thoraval, David Geneviève, Elizaveta Mndjoyan, Marina Papazian, Ashot Sarkisian, Ara Babloyan, Brigitte Boissier, Philippe Duques

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 266 KB

english, 2000

10

Localization of a Small Genomic Region Associated with Elevated ACE

Xiaofeng Zhu, Colin A. McKenzie, Terrence Forrester, Deborah A. Nickerson, Ulrich Broeckel, Heribert Schunkert, Angela Doering, Howard J. Jacob, Richard S. Cooper, Mark J. Rieder

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 217 KB

english, 2000

11

A Second-Generation Genomewide Screen for Asthma-Susceptibility Alleles in a Founder Population

Carole Ober, Anya Tsalenko, Rodney Parry, Nancy J. Cox

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 114 KB

english, 2000

12

The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes

Soumitra Ghosh, Richard M. Watanabe, Timo T. Valle, Elizabeth R. Hauser, Victoria L. Magnuson, Carl D. Langefeld, Delphine S. Ally, Karen L. Mohlke, Kaisa Silander, Kimmo Kohtamäki, Peter Chines, Jame

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 305 KB

english, 2000

13

The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes-Related Quantitative-Trait Loci

Richard M. Watanabe, Soumitra Ghosh, Carl D. Langefeld, Timo T. Valle, Elizabeth R. Hauser, Victoria L. Magnuson, Karen L. Mohlke, Kaisa Silander, Delphine S. Ally, Peter Chines, Jillian Blaschak-Harv

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 287 KB

english, 2000

14

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun Nürnberg, Susanne Jatzke, Ernst Franzek, André Reis, Klaus-Peter Lesch, Thomas F. Wienker, Helmut Beckmann

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 131 KB

english, 2000

15

Improved Inference of Relationship for Pairs of Individuals

Michael P. Epstein, William L. Duren, Michael Boehnke

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 142 KB

english, 2000

16

Performance of Markov Chain–Monte Carlo Approaches for Mapping Genes in Oligogenic Models with an Unknown Number of Loci

Jae K. Lee, Duncan C. Thomas

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 381 KB

english, 2000

17

Tracing European Founder Lineages in the Near Eastern mtDNA Pool

Martin Richards, Vincent Macaulay, Eileen Hickey, Emilce Vega, Bryan Sykes, Valentina Guida, Chiara Rengo, Daniele Sellitto, Fulvio Cruciani, Toomas Kivisild, Richard Villems, Mark Thomas, Serge Rychk

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

18

Autosomal, mtDNA, and Y-Chromosome Diversity in Amerinds: Pre- and Post-Columbian Patterns of Gene Flow in South America

Natalia R. Mesa, María C. Mondragón, Iván D. Soto, María V. Parra, Constanza Duque, Daniel Ortíz-Barrientos, Luis F. García, Iván D. Velez, María L. Bravo, Juan G. Múnera, Gabriel Bedoya, Maria-Cátira

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 149 KB

english, 2000

19

Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia

Luis G. Carvajal-Carmona, Iván D. Soto, Nicolás Pineda, Daniel Ortíz-Barrientos, Constanza Duque, Jorge Ospina-Duque, Mark McCarthy, Patricia Montoya, Victor M. Alvarez, Gabriel Bedoya, Andrés Ruiz-Li

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 121 KB

english, 2000

20

Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis

Francoise Macari, Marina Landau, Pascal Cousin, Barukh Mevorah, Sarah Brenner, Renato Panizzon, Daniel F. Schorderet, Daniel Hohl, Marcel Huber

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 569 KB

english, 2000

21

A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

Fujio Umehara, Genshu Tate, Kayoko Itoh, Naoki Yamaguchi, Tsutomu Douchi, Toshiyuki Mitsuya, Mitsuhiro Osame

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 409 KB

english, 2000

22

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

Johan P. de Winter, France Léveillé, Carola G.M. van Berkel, Martin A. Rooimans, Laura van der Weel, Jurgen Steltenpool, Ilja Demuth, Neil V. Morgan, Noa Alon, Lucine Bosnoyan-Collins, Jeff Lightfoot,

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 101 KB

english, 2000

23

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Xiaodong Jiao, Francis L. Munier, Fumino Iwata, Mutsuko Hayakawa, Atsushi Kanai, June Lee, Daniel F. Schorderet, Muh-Shy Chen, Muriel Kaiser-Kupfer, J. Fielding Hejtmancik

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 263 KB

english, 2000

24

A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families

Christine Klein, Karla Schilling, Rachel J. Saunders-Pullman, Jennifer Garrels, Xandra O. Breakefield, Mitchell F. Brin, Deborah deLeon, Dana Doheny, Stanley Fahn, J. Stephen Fink, Lars Forsgren, Jenn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 140 KB

english, 2000

25

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

Andrea H. Németh, Elena Bochukova, Eimear Dunne, Susan M. Huson, John Elston, Mohammed A. Hannan, Matthew Jackson, Cyril J. Chapman, A. Malcolm R. Taylor

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 170 KB

english, 2000

26

Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

Yuan-Qing Wu, Jose L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 346 KB

english, 2000

27

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

Andrea Zatková, Daniel Beltrán Valero de Bernabé, Helena Poláková, Marek Zvarík, Eva Feráková, Vladimir Bošák, Vladimír Ferák, L'udovít Kádasi, Santiago Rodríguez de Córdoba

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 904 KB

english, 2000

28

General Equations for Pt, Ps, and the Power of the TDT and the Affected–Sib-Pair Test

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 199 KB

english, 2000

29

Pitfalls in Homozygosity Mapping

Maria G. Miano, Samuel G. Jacobson, Andrew Carothers, Isabel Hanson, Peter Teague, Jill Lovell, Artur V. Cideciyan, Neena Haider, Edwin M. Stone, Val C. Sheffield, Alan F. Wright

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 236 KB

english, 2000

30

On a Randomization Procedure

Augustine Kong, Dan L. Nicolae

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

31

Reply to Kong and Nicolae

Hongyu Zhao, Kathleen R. Merikangas, Kenneth K. Kidd

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

32

The Promise and Pitfalls of Telomere Region–Specific Probes

Blake C. Ballif, Catherine D. Kashork, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 185 KB

english, 2000

33

Announcements

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

34

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 17 KB

english, 2000

35

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 14 KB

2000

36

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 14 KB

2000

37

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 16 KB

2000

38

Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

Brage Storstein Andresen, Ernst Christensen, Thomas J. Corydon, Peter Bross, Bente Pilgaard, Ronald J.A. Wanders, Jos P.N. Ruiter, Henrik Simonsen, Vibeke Winter, Inga Knudsen, Lisbeth Dahl Schroeder,

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.50 MB

english, 2000

39

Major Genes Regulating Total Serum Immunoglobulin E Levels in Families with Asthma

Jianfeng Xu, Dirkje S. Postma, Timothy D. Howard, Gerard H. Koppelman, Siqun L. Zheng, O. Colin Stine, Eugene R. Bleecker, Deborah A. Meyers

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 304 KB

english, 2000

40

Linkage Disequilibrium Analysis of Biallelic DNA Markers, Human Quantitative Trait Loci, and Threshold-Defined Case and Control Subjects

Nicholas J. Schork, Swapan K. Nath, Daniele Fallin, Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 276 KB

english, 2000

41

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, Margaret Fox, Louise Ocaka, Annette Payne, Bart P. Leroy, Brian J. Clark, Roger A. Hitchings, Sue Povey, Peng T. Khaw, Shomi S. Bhattacharya

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 479 KB

english, 2000

42

Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain

Tala de los Santos, Johannes Schweizer, Christian A. Rees, Uta Francke

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 2.28 MB

english, 2000

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@1delivery.pm

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