Volume 66; Issue 1

The American Journal of Human Genetics

Volume 66; Issue 1

1

Announcements

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 58 KB

english, 2000

2

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 43 KB

english, 2000

3

Full-Genome Scan for Linkage in 50 Families Segregating the Bipolar Affective Disease Phenotype

Carl Friddle, Rebecca Koskela, Koustubh Ranade, Joan Hebert, Michele Cargill, Chris D. Clark, Melvin McInnis, Sylvia Simpson, Francis McMahon, O. Colin Stine, Deborah Meyers, Jianfeng Xu, Dean MacKinn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 431 KB

english, 2000

4

A General Test of Association for Quantitative Traits in Nuclear Families

G.R. Abecasis, L.R. Cardon, W.O.C. Cookson

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 146 KB

english, 2000

5

Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene

Alan R. Templeton, Andrew G. Clark, Kenneth M. Weiss, Deborah A. Nickerson, Eric Boerwinkle, Charles F. Sing

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 184 KB

english, 2000

6

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Ro

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 107 KB

english, 2000

7

Transmission-Ratio Distortion at Xp11.4-p21.1 in Type 1 Diabetes

Patrizia Zavattari, Laura Esposito, Sarah Nutland, John A. Todd, Francesco Cucca

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 61 KB

english, 2000

8

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes

Ulrich Finckh, Tomas Müller-Thomsen, Ulrike Mann, Christian Eggers, Josef Marksteiner, Wolfgang Meins, Giuliano Binetti, Antonella Alberici, Christoph Hock, Roger M. Nitsch, Andreas Gal

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 101 KB

english, 2000

9

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

Elke Holinski-Feder, Edwin Reyniers, Sabine Uhrig, Astrid Golla, Jan Wauters, Peter Kroisel, Paul Bossuyt, Imma Rost, Kerry Jedele, Hannelore Zierler, Sieglinde Schwab, Dieter Wildenauer, Michael R. S

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 352 KB

english, 2000

10

A Cholesterol-Lowering Gene Maps to Chromosome 13q

Hans Knoblauch, Bertram Müller-Myhsok, Andreas Busjahn, Liat Ben Avi, Sylvia Bähring, Heike Baron, Simon C. Heath, Regina Uhlmann, Hans-Dieter Faulhaber, Shoshi Shpitzen, Atakan Aydin, Ayeleth Reshef,

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 321 KB

english, 2000

11

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

Heymut Omran, Carmen Fernandez, Martin Jung, Karsten Häffner, Bernardo Fargier, Aminta Villaquiran, Rüdiger Waldherr, Norbert Gretz, Matthias Brandis, Franz Rüschendorf, André Reis, Friedhelm Hildebra

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 864 KB

english, 2000

12

Geographic Patterns of mtDNA Diversity in Europe

Lucia Simoni, Francesc Calafell, Davide Pettener, Jaume Bertranpetit, Guido Barbujani

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 286 KB

english, 2000

13

The Use of Case-Parent Triads to Study Joint Effects of Genotype and Exposure

David M. Umbach, Clarice R. Weinberg

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 113 KB

english, 2000

14

Testing for Linkage Disequilibrium, Maternal Effects, and Imprinting with (In)complete Case-Parent Triads, by Use of the Computer Program LEM

Edwin J.C.G. van den Oord, Jeroen K. Vermunt

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 81 KB

english, 2000

15

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

Paola Riva, Lucia Corrado, Federica Natacci, Pierangela Castorina, Bai-Li Wu, Gretchen H. Schneider, Maurizio Clementi, Romano Tenconi, Bruce R. Korf, Lidia Larizza

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 253 KB

english, 2000

16

The Number of Trait Loci in Late-Onset Alzheimer Disease

E. Warwick Daw, Haydeh Payami, Ellen J. Nemens, David Nochlin, Thomas D. Bird, Gerard D. Schellenberg, Ellen M. Wijsman

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 108 KB

english, 2000

17

Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype?

James S. Palmer, David L. Duffy, Neil F. Box, Joanne F. Aitken, Louise E. O'Gorman, Adele C. Green, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 138 KB

english, 2000

18

Isoform-Specific Imprinting of the Human PEG1/MEST Gene

Kenjiro Kosaki, Rika Kosaki, William J. Craigen, Nobutake Matsuo

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 127 KB

english, 2000

19

The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14

Duanxiang Li, Ferhaan Ahmad, Martin J. Gardner, Donald Weilbaecher, Rita Hill, Akihiko Karibe, Oscar Gonzalez, Terry Tapscott, Geoffrey P. Sharratt, Linda L. Bachinski, Robert Roberts

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 270 KB

english, 2000

20

Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing

Anne Girardet, Mary Sara McPeek, Esther P. Leeflang, Francis Munier, Norman Arnheim, Mireille Claustres, Franck Pellestor

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 104 KB

english, 2000

21

Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect

C. Macmillan, T.A. Johns, K. Fu, E.A. Shoubridge

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

22

Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

David Monk, Emma L Wakeling, Virginia Proud, Megan Hitchins, Sayeda N. Abu-Amero, Philip Stanier, Michael A. Preece, Gudrun E Moore

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.07 MB

english, 2000

23

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23

Young-Ae Lee, Howard P. Stevens, Emmanuel Delaporte, Ulrich Wahn, André Reis

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 127 KB

english, 2000

24

A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q

Sharola Dharmaraj, Yingying Li, Johane M. Robitaille, Eduardo Silva, Danping Zhu, Thomas N. Mitchell, Lara P. Maltby, Agnes B. Baffoe-Bonnie, Irene H. Maumenee

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 100 KB

english, 2000

25

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Flora Tassone, Randi J. Hagerman, Annette K. Taylor, Louise W. Gane, Tony E. Godfrey, Paul J. Hagerman

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 136 KB

english, 2000

26

High Levels of Sequence Polymorphism and Linkage Disequilibrium at the Telomere of 12q: Implications for Telomere Biology and Human Evolution

Duncan M. Baird, Joanna Coleman, Zoë H. Rosser, Nicola J. Royle

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.14 MB

english, 2000

27

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

Risa Peoples, Yvonne Franke, Yu-Ker Wang, Luis Pérez-Jurado, Tamar Paperna, Michael Cisco, Uta Francke

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.53 MB

english, 2000

28

Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome

E. Belloni, G. Martucciello, D. Verderio, E. Ponti, M. Seri, V. Jasonni, M. Torre, M. Ferrari, L.-C. Tsui, S.W. Scherer

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 194 KB

english, 2000

29

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, J. Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. Michael Connor, James Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 214 KB

english, 2000

30

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Bert B.A. de Vries, Willem F.M. Arts, Guido J. Breedveld, Jeannette J.M. Hoogeboom, Martinus F. Niermeijer, Peter Heutink

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 99 KB

english, 2000

31

Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations

Katrina A.B. Goddard, Penelope J. Hopkins, Jeff M. Hall, John S. Witte

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 282 KB

english, 2000

32

Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3

Mohsen Ghadami, Yoshio Makita, Kunihiro Yoshida, Gen Nishimura, Yoshimitsu Fukushima, Keiko Wakui, Shiro Ikegawa, Koki Yamada, Shinji Kondo, Norio Niikawa, Hiro-aki Tomita

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 104 KB

english, 2000

33

Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema

Norihiro Yamada, Mutsuo Yamaya, Shoji Okinaga, Katsutoshi Nakayama, Kiyohisa Sekizawa, Shigeki Shibahara, Hidetada Sasaki

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 471 KB

english, 2000

34

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10

Silvère M. van der Maarel, Giancarlo Deidda, Richard J.L.F. Lemmers, Petra G.M. van Overveld, Michiel van der Wielen, Jane E. Hewitt, Lodewijk Sandkuijl, Bert Bakker, Gert-Jan B. van Ommen, George W.

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.34 MB

english, 2000

35

In the Beginning…

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

36

A New Millennium and a New Editor

Stephen T. Warren

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

37

Genetic Disorders of Human Sexual Development

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 30 KB

english, 2000

38

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 19 KB

2000

39

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 17 KB

2000

40

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 18 KB

2000

41

Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic Discrimination

Mark A. Hall, Stephen S. Rich

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 121 KB

english, 2000

42

Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents

M.T. Sgambati, C. Stolle, P.L. Choyke, M.M. Walther, B. Zbar, W.M. Linehan, G.M. Glenn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.14 MB

english, 2000