Volume 65; Issue 1

The American Journal of Human Genetics

Volume 65; Issue 1

1

Possible Interaction between USH1B and USH3 Gene Products as Implied by Apparent Digenic Deafness Inheritance

Avital Adato, Hagar Kalinski, Dominique Weil, Hassan Chaib, Michael Korostishevsky, Batsheva Bonne-Tamir

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 188 KB

english, 1999

2

The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

Leo A.J. Kluijtmans, Godfried H.J. Boers, Jan P. Kraus, Lambert P. W.J. van den Heuvel, Johan R.M. Cruysberg, Frans J.M. Trijbels, Henk J. Blom

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

3

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia

Paul Holden, Elizabeth G. Canty, Geert R. Mortier, Bernhard Zabel, Jurgen Spranger, Andrew Carr, Michael E. Grant, John A. Loughlin, Michael D. Briggs

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 366 KB

english, 1999

4

Highly Skewed X-Chromosome Inactivation Is Associated with Idiopathic Recurrent Spontaneous Abortion

Mark C. Lanasa, W. Allen Hogge, Carolyn Kubik, Jan Blancato, Eric P. Hoffman

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 140 KB

english, 1999

5

An mtDNA Analysis in Ancient Basque Populations: Implications for Haplogroup V as a Marker for a Major Paleolithic Expansion from Southwestern Europe

N. Izagirre, C. de la Rúa

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 140 KB

english, 1999

6

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

Véronique Satre, Nicole Monnier, Florence Berthoin, Carmen Ayuso, Alain Joannard, Pierre-Simon Jouk, Isidora Lopez-Pajares, André Megabarne, Henri Jean Philippe, Henri Plauchu, Maria Luisa Torres, Joë

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

7

A Test of Transmission/Disequilibrium for Quantitative Traits in Pedigree Data, by Multiple Regression

Varghese George, Hemant K. Tiwari, Xiaofeng Zhu, Robert C. Elston

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

8

A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External Ophthalmoplegia

Jyrki Kaukonen, Massimo Zeviani, Giacomo Pietro Comi, Maria-Grazia Piscaglia, Leena Peltonen, Anu Suomalainen

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 194 KB

english, 1999

9

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

S.W. Knight, N.S. Heiss, T.J. Vulliamy, S. Greschner, G. Stavrides, G.S. Pai, G. Lestringant, N. Varma, P.J. Mason, I. Dokal, A. Poustka

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 207 KB

english, 1999

10

In Swedish Families with Hereditary Prostate Cancer, Linkage to the HPC1 Locus on Chromosome 1q24-25 Is Restricted to Families with Early-Onset Prostate Cancer

Henrik Grönberg, Jeffrey Smith, Monika Emanuelsson, Björn-Anders Jonsson, Anders Bergh, John Carpten, William Isaacs, Jianfeng Xu, Deborah Meyers, Jeffrey Trent, Jan-Erik Damber

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 130 KB

english, 1999

11

Sequence Diversity in 36 Candidate Genes for Cardiovascular Disorders

François Cambien, Odette Poirier, Viviane Nicaud, Stefan-Martin Herrmann, Christine Mallet, Sylvain Ricard, Isabelle Behague, Vincent Hallet, Hervé Blanc, Valérie Loukaci, Joëlle Thillet, Alun Evans,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 448 KB

english, 1999

12

Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies

Jonathan K. Pritchard, Noah A. Rosenberg

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 154 KB

english, 1999

13

A Gene for Inherited Cutaneous Venous Anomalies (“Glomangiomas”) Localizes to Chromosome 1p21-22

Laurence M. Boon, Pascal Brouillard, Alexandre Irrthum, Leena Karttunen, Matthew L. Warman, Ross Rudolph, John B. Mulliken, Bjorn R. Olsen, Miikka Vikkula

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 405 KB

english, 1999

14

Sex-Specific Migration Patterns in Central Asian Populations, Revealed by Analysis of Y-Chromosome Short Tandem Repeats and mtDNA

Anna Pérez-Lezaun, Francesc Calafell, David Comas, Eva Mateu, Elena Bosch, Rosa Martínez-Arias, Jordi Clarimón, Giovanni Fiori, Donata Luiselli, Fiorenzo Facchini, Davide Pettener, Jaume Bertranpetit

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 242 KB

english, 1999

15

Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli

Koenraad Devriendt, Jaak Jaeken, Gert Matthijs, Hilde Van Esch, Philippe Debeer, Marc Gewillig, Jean-Pierre Fryns

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 89 KB

english, 1999

16

Patterns of Instability of Expanded CAG Repeats at the ERDA1 Locus in General Populations

Ranjan Deka, Sun Guangyun, Jonathan Wiest, Diane Smelser, Su Chunhua, Yixi Zhong, Ranajit Chakraborty

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 152 KB

english, 1999

17

The Gene for Cherubism Maps to Chromosome 4p16.3

Jonathan Mangion, Nazneen Rahman, Sarah Edkins, Rita Barfoot, Trang Nguyen, Asgeir Sigurdsson, John V. Townend, David R. Fitzpatrick, Adrienne M. Flanagan, Michael R. Stratton

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 165 KB

english, 1999

18

Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

Dietmar Pfeifer, Ralf Kist, Ken Dewar, Keri Devon, Eric S. Lander, Bruce Birren, Lech Korniszewski, Elke Back, Gerd Scherer

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 281 KB

english, 1999

19

The Gene for Cherubism Maps to Chromosome 4p16

Valdenize Tiziani, Ernst Reichenberger, Celso Luiz Buzzo, Sadia Niazi, Naomi Fukai, Michael Stiller, Hartmut Peters, Francisco M. Salzano, Cassio M. Raposo do Amaral, Bjorn Reino Olsen

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 457 KB

english, 1999

20

No Evidence of Linkage for Chromosome 1q42.2-43 in Prostate Cancer

Alice S. Whittemore, Iping G. Lin, Ingrid Oakley-Girvan, Richard P. Gallagher, Jerry Halpern, Laurence N. Kolonel, Anna H. Wu, Chih-Lin Hsieh

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

21

Anticipation in Familial Chronic Lymphocytic Leukemia

Lynn R. Goldin, Maria Sgambati, Gerald E. Marti, Laura Fontaine, Naoko Ishibe, Neil Caporaso

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 61 KB

english, 1999

22

MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications

Cécile Cazeneuve, Tamara Sarkisian, Christophe Pêcheux, Michel Dervichian, Brigitte Nédelec, Philippe Reinert, Alexandre Ayvazyan, Jean-Claude Kouyoumdjian, Hasmik Ajrapetyan, Marc Delpech, Michel Goo

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 212 KB

english, 1999

23

Identification of Mutations in the Repeated Part of the Autosomal Dominant Polycystic Kidney Disease Type 1 Gene, PKD1, by Long-Range PCR

Ruth Thomas, Robert McConnell, Jo Whittacker, Peter Kirkpatrick, John Bradley, Richard Sandford

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 273 KB

english, 1999

24

A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3

Kunihiro Fukushima, Norio Kasai, Yasuyoshi Ueki, Kazunori Nishizaki, Kennichi Sugata, Satoshi Hirakawa, Akemi Masuda, Mehmet Gunduz, Yoshifumi Ninomiya, Yu Masuda, Minako Sato, Wyman T. McGuirt, Paul

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 242 KB

english, 1999

25

Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis

Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee, Arie Smits, Eddy van Looveren, Patrick J. Willems, Hans Galjaard, Ben A. Oostra

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 155 KB

english, 1999

26

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2

Biao Chen, Brigitte Rigat, Cynthia Curry, Don J. Mahuran

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 394 KB

english, 1999

27

A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13.1-q13.3

Peter D. Turnpenny, Michael P. Bulman, Timothy M. Frayling, Tewfiq K. Abu-Nasra, Christine Garrett, Andrew T. Hattersley, Sian Ellard

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 279 KB

english, 1999

28

Osteoarthritis-Susceptibility Locus on Chromosome 11q, Detected by Linkage

Kay Chapman, Zehra Mustafa, Catherine Irven, Andrew J. Carr, Kim Clipsham, Anne Smith, Jai Chitnavis, Janet S. Sinsheimer, Victoria A. Bloomfield, Mary McCartney, Olive Cox, Lon R. Cardon, Bryan Sykes

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

29

Methods for Detection of Parent-of-Origin Effects in Genetic Studies of Case-Parents Triads

Clarice R. Weinberg

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 90 KB

english, 1999

30

Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster

Miguel Del Campo, Marilyn C. Jones, Alexey N. Veraksa, Cindy J. Curry, Kenneth L. Jones, James T. Mascarello, Zohra Ali-Kahn-Catts, Timothy Drumheller, William McGinnis

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 206 KB

english, 1999

31

Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11

Roy Wadey, Judith McKie, Charalambos Papapetrou, Helen Sutherland, Frans Lohman, Jan Osinga, Ingrid Frohn, Robert Hofstra, Carel Meijers, Francesca Amati, Emanuela Conti, Antonio Pizzuti, Bruno Dallap

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 52 KB

english, 1999

32

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 18 KB

1999

33

Genome Analysis: A Laboratory Manual (Vols. 1–4)

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 30 KB

english, 1999

34

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

35

Periventricular Heterotopia and the Genetics of Neuronal Migration in the Cerebral Cortex

Jeremy W. Fox, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 145 KB

english, 1999

36

Function and Dysfunction of the Presenilins

Sangram S. Sisodia, Seong H. Kim, Gopal Thinakaran

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 118 KB

english, 1999

37

Learning from the Slime Mold: Dictyostelium and Human Disease

Charles L. Saxe

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 206 KB

english, 1999

38

Microglia and the Immune Pathology of Alzheimer Disease

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 189 KB

english, 1999

39

New Editor of The American Journal of Human Genetics

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 18 KB

1999

40

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 18 KB

1999

41

Errata

Journal:

The American Journal of Human Genetics

Year:

1999

File:

PDF, 20 KB

1999

42

Announcements

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

43

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

44

Genetics of Angelman Syndrome

Yong-hui Jiang, Efrat Lev-Lehman, Jan Bressler, Ting-Fen Tsai, Arthur L. Beaudet

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999