Volume 65; Issue 5

The American Journal of Human Genetics

Volume 65; Issue 5

1

Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome

Laurie A. Christ, Carol A. Crowe, Mark A. Micale, Jeffrey M. Conroy, Stuart Schwartz

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 319 KB

english, 1999

2

On a Randomization Procedure in Linkage Analysis

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

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 102 KB

english, 1999

3

Pseudoautosomal Linkage of Hodgkin Disease

Marshall Horwitz, Peter H. Wiernik

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 114 KB

english, 1999

4

Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

Carol Hardy, Farhat Khanim, Rosarelis Torres, Martin Scott-Brown, Anneke Seller, Joanna Poulton, David Collier, Jeremy Kirk, Mihael Polymeropoulos, Farida Latif, Timothy Barrett

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 809 KB

english, 1999

5

Further Evidence for a Susceptibility Locus on Chromosome 20q13.11 in Families with Dominant Transmission of Graves Disease

Simon H.S. Pearce, Bijayeswar Vaidya, Helen Imrie, Petros Perros, William F. Kelly, Anthony D. Toft, Mark I. McCarthy, Eric T. Young, Pat Kendall-Taylor

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

6

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 181 KB

english, 1999

7

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations

Ying Wu, Maran J.W. Berends, Rob G.J. Mensink, Claudia Kempinga, Rolf H. Sijmons, Ate G.J. van der Zee, Harry Hollema, Jan H. Kleibeuker, Charles H.C.M. Buys, Robert M.W. Hofstra

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

8

A Complete Genome Screen in Sib Pairs Affected by Gilles de la Tourette Syndrome

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 121 KB

english, 1999

9

Interindividual Variation in Mitotic Recombination

Deborah Holt, Monica Dreimanis, Marie Pfeiffer, Frank Firgaira, Alec Morley, David Turner

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 75 KB

english, 1999

10

Methylation Imprinting of H19 and SNRPN Genes in Human Benign Ovarian Teratomas

K. Miura, M. Obama, K. Yun, H. Masuzaki, Y. Ikeda, S. Yoshimura, T. Akashi, N. Niikawa, T. Ishimaru, Y. Jinno

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 858 KB

english, 1999

11

Transfection of BLM into Cultured Bloom Syndrome Cells Reduces the Sister-Chromatid Exchange Rate toward Normal

Nathan A. Ellis, Maria Proytcheva, Maureen M. Sanz, Tian-Zhang Ye, James German

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 691 KB

english, 1999

12

Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism

Matthew E. Hurles, Reiner Veitia, Eduardo Arroyo, Manuel Armenteros, Jaume Bertranpetit, Anna Pérez-Lezaun, Elena Bosch, Maria Shlumukova, Anne Cambon-Thomsen, Ken McElreavey, Adolfo López de Munain,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 296 KB

english, 1999

13

Association of RET Protooncogene Codon 45 Polymorphism with Hirschsprung Disease

Guido Fitze, Matthias Schreiber, Eberhard Kuhlisch, Hans K. Schackert, Dietmar Roesner

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 75 KB

english, 1999

14

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Elise Héon, Megan Priston, Daniel F. Schorderet, Gail D. Billingsley, Philippe Othenin Girard, Nicolette Lubsen, Francis L. Munier

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 387 KB

english, 1999

15

Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain

WL Greer, MJ Dobson, GS Girouard, DM Byers, DC Riddell, PE Neumann

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 154 KB

english, 1999

16

Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33

Bruno Moulard, Denys Chaigne, Dominique Mouthon, Catherine Buresi, Michel Guipponi, Alain Malafosse

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 104 KB

english, 1999

17

The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder Events

Johanna C. Moolman-Smook, Willem J. De Lange, Eduard C.D. Bruwer, Paul A. Brink, Valerie A. Corfield

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 483 KB

english, 1999

18

Mapping of a First Locus for Autosomal Dominant Myxomatous Mitral-Valve Prolapse to Chromosome 16p11.2-p12.1

Sandra Disse, Eric Abergel, Alain Berrebi, Anne-Marie Houot, Jean-Yves Le Heuzey, Benoît Diebold, Louis Guize, Alain Carpentier, Pierre Corvol, Xavier Jeunemaitre

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 252 KB

english, 1999

19

The Sex Ratio in Familial Persistent Stuttering

Dennis Drayna, James Kilshaw, Jennifer Kelly

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 55 KB

english, 1999

20

Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype

Gilles Millat, Christophe Marçais, Mohammad A. Rafi, Toshiyuki Yamamoto, Jill A. Morris, Peter G. Pentchev, Kousaku Ohno, David A. Wenger, Marie T. Vanier

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

21

High Frequency of Large Intragenic Deletions in the Fanconi Anemia Group A Gene

Neil V. Morgan, Alex J. Tipping, Hans Joenje, Christopher G. Mathew

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 156 KB

english, 1999

22

Hypomethylation of an Expanded FMR1 Allele Is Not Associated with a Global DNA Methylation Defect

Robert W. Burman, Phillip A. Yates, Lindsay D. Green, Peter B. Jacky, Mitchell S. Turker, Bradley W. Popovich

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1005 KB

english, 1999

23

A Means to an End: The Biological Basis of Aging and Death.

George M. Martin

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

24

Yeast as a Model for Human mtDNA Replication

Gerald S. Shadel

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

25

Functional and Structural Brain Abnormalities Associated with a Genetic Disorder of Speech and Language

Kate E Watkins, David G. Gadian, Faraneh Vargha-Khadem

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 288 KB

english, 1999

26

IQ and Human Intelligence.

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

27

Visuospatial Construction

Carolyn B. Mervis, Byron F. Robinson, John R. Pani

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 81 KB

english, 1999

28

American Board of Medical Genetics and American Board of Genetic Counseling Diplomates

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 31 KB

1999

29

Toward an Understanding of the Cause of Mitral Valve Prolapse

Jeffrey A. Towbin

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

30

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik-Schöneborn, Gisela Stoltenburg-Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klau

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

31

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p

Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni Amendola, Arcangela Moretti, Leopoldo Zelante, Achille Iolascon

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 92 KB

english, 1999

32

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

Edwin Reyniers, Patrick Van Bogaert, Nils Peeters, Lieve Vits, Fernand Pauly, Erik Fransen, Nicole Van Regemorter, R. Frank Kooy

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 138 KB

english, 1999

33

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

Nicolas Sévenet, Eammon Sheridan, Daniel Amram, Pascale Schneider, Rupert Handgretinger, Olivier Delattre

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 310 KB

english, 1999

34

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

C. Ruth Jamieson, Cédric Govaerts, Marc J. Abramowicz

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 93 KB

english, 1999

35

About the “Pathological” Role of the mtDNA T3308C Mutation…

Hugo Rocha, Carlos Flores, Yolanda Campos, Joaquín Arenas, Laura Vilarinho, Filippo M. Santorelli, Antonio Torroni

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 55 KB

english, 1999

36

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness

Antonio Torroni, Fulvio Cruciani, Chiara Rengo, Daniele Sellitto, Núria López-Bigas, Raquel Rabionet, Nancy Govea, Adolfo López de Munain, Maritza Sarduy, Lourdes Romero, Manuela Villamar, Ignacio del

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

37

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 16 KB

1999

38

Announcements

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

39

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 45 KB

english, 1999

40

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 19 KB

english, 1999

41

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

I. Quack, B. Vonderstrass, M. Stock, AS Aylsworth, A. Becker, L. Brueton, PJ Lee, F. Majewski, JB Mulliken, M. Suri, M. Zenker, S. Mundlos, F. Otto

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 355 KB

english, 1999

42

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 17 KB

1999