Volume 67; Issue 4

The American Journal of Human Genetics

Volume 67; Issue 4

1

Errata

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 316 KB

english, 2000

2

Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins

S.A. Tishkoff, A.J. Pakstis, M. Stoneking, J.R. Kidd, G. Destro-Bisol, A. Sanjantila, R.-b. Lu, A.S. Deinard, G. Sirugo, T. Jenkins, K.K. Kidd, A.G. Clark

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 3.07 MB

english, 2000

3

Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation-Maximization Algorithm for Unphased Diploid Genotype Data

Daniele Fallin, Nicholas J. Schork

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 3.11 MB

english, 2000

4

Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism

Stephanie M. Fullerton, Andrew G. Clark, Kenneth M. Weiss, Deborah A. Nickerson, Scott L. Taylor, Jari H. Stengård, Veikko Salomaa, Erkki Vartiainen, Markus Perola, Eric Boerwinkle, Charles F. Sing

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.37 MB

english, 2000

5

Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G

Ania C. Muntau, Peter U. Mayerhofer, Barbara C. Paton, Stefan Kammerer, Adelbert A. Roscher

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 837 KB

english, 2000

6

Transmission/Disequilibrium Tests Using Multiple Tightly Linked Markers

Hongyu Zhao, Shuanglin Zhang, Kathleen R. Merikangas, Matyas Trixler, Dieter B. Wildenauer, Fengzhu Sun, Kenneth K. Kidd

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 328 KB

english, 2000

7

Genetic Testing Should Not Be Advocated as a Diagnostic Tool in Familial Forms of Dementia

Esther A. Croes, Bart Dermaut, Tischa J.M. van der Cammen, Christine van Broeckhoven, Cornelia M. van Duijn

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 56 KB

english, 2000

8

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

Young-Ae Lee, Franz Rüschendorf, Christine Windemuth, Marcus Schmitt-Egenolf, Antje Stadelmann, Gudrun Nürnberg, Markward Ständer, Thomas F. Wienker, André Reis, Heiko Traupe

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 629 KB

english, 2000

9

Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing

Meredith A. Unger, Katherine L. Nathanson, Kathleen Calzone, Danielle Antin-Ozerkis, Helen A. Shih, Anne-Marie Martin, Gilbert M. Lenoir, Sylvie Mazoyer, Barbara L. Weber

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 458 KB

english, 2000

10

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans Verheijen, Grazia Mancini, Jan-Eric Månsson, Pertti Aula, Leena Peltonen

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 213 KB

english, 2000

11

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D'Adamo, Koenraad Denvriendt, Jean-Pierre Fryns, Daniela Toniolo, Alessandra Renieri

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 129 KB

english, 2000

12

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider, Anita Blankenagel, Han G. Brunner, August F. Deutman, Carel B. Hoyng, Frans P.M. Cremers

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 454 KB

english, 2000

13

Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q

Laura N. Bull, Erin Roche, Eyun J. Song, Jan Pedersen, A.S. Knisely, , C.B. van der Hagen, Kristin Eiklid, Øystein Aagenaes, Nelson B. Freimer

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 689 KB

english, 2000

14

A Unified Haseman-Elston Method for Testing Linkage with Quantitative Traits

Xin Xu, Scott Weiss, Xiping Xu, L.J. Wei

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 491 KB

english, 2000

15

Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations

Phillip A. Isotalo, George A. Wells, James G. Donnelly

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 73 KB

english, 2000

16

Consistent Long-Range Linkage Disequilibrium Generated by Admixture in a Bantu-Semitic Hybrid Population

James F. Wilson, David B. Goldstein

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.39 MB

english, 2000

17

An Isochore Transition in the NF1 Gene Region Coincides with a Switch in the Extent of Linkage Disequilibrium

Ingrid Eisenbarth, Gunther Vogel, Winfrid Krone, Walther Vogel, Günter Assum

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 845 KB

english, 2000

18

PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G

Kamran Ghaedi, Masanori Honsho, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 387 KB

english, 2000

19

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 745 KB

english, 2000

20

Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men

Eddie D. Sloter, Xiu Lowe, Dan H. Moore II, Joginder Nath, Andrew J. Wyrobek

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.28 MB

english, 2000

21

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

Jennifer J. Johnston, Richard I. Kelley, Thomas O. Crawford, D. Holmes Morton, Richa Agarwala, Thorsten Koch, Alejandro A. Schäffer, Clair A. Francomano, Leslie G. Biesecker

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 921 KB

english, 2000

22

A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Andrea Rivera, Karen White, Heidi Stöhr, Klaus Steiner, Nadine Hemmrich, Timo Grimm, Bernhard Jurklies, Birgit Lorenz, Hendrik P.N. Scholl, Eckhart Apfelstedt-Sylla, Bernhard H.F. Weber

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 339 KB

english, 2000

23

Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

Alan J. Mears, Suja Hiriyanna, Raf Vervoort, Beverly Yashar, Linn Gieser, Stacey Fahrner, Stephen P. Daiger, John R. Heckenlively, Paul A. Sieving, Alan F. Wright, Anand Swaroop

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 864 KB

english, 2000

24

Hypervariable Sites in the mtDNA Control Region Are Mutational Hotspots

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 122 KB

english, 2000

25

Significant Linkage for Tourette Syndrome in a Large French Canadian Family

Chantal Mérette, Andrée Brassard, Anne Potvin, Hélène Bouvier, François Rousseau, Claudia Émond, Luc Bissonnette, Marc-André Roy, Michel Maziade, Jurg Ott, Chantal Caron

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 863 KB

english, 2000

26

Reply to Croes et al.

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, 55 KB

english, 2000

27

Mapping a Dominant Form of Multinodular Goiter to Chromosome Xp22

F. Capon, A. Tacconelli, E. Giardina, S. Sciacchitano, R. Bruno, V. Tassi, V. Trischitta, S Filetti, B Dallapiccola, G. Novelli

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 593 KB

english, 2000

28

Association of HPC2/ELAC2 Genotypes and Prostate Cancer

Timothy R. Rebbeck, Amy H. Walker, Charnita Zeigler-Johnson, Sangeetha Weisburg, Anne-Marie Martin, Katherine L. Nathanson, Alan J. Wein, S. Bruce Malkowicz

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 288 KB

english, 2000

29

The Efficiency of Pooling in the Detection of Rare Mutations

Joseph L. Gastwirth

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

30

Genomic Sequence, Splicing, and Gene Annotation

Stephen M. Mount

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 142 KB

english, 2000

31

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

File:

PDF, 315 KB

2000

32

Mechanisms of Genomic Imprinting

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 740 KB

english, 2000

33

Announcements

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 51 KB

english, 2000

34

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 43 KB

english, 2000

35

Multipoint Genetic Mapping with Uniparental Disomy Data

Hongyu Zhao, Jinming Li, Wendy P. Robinson

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 138 KB

english, 2000

36

Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B

Georg C. Schwabe, Sigrid Tinschert, Christian Buschow, Peter Meinecke, Gerhard Wolff, Gabriele Gillessen-Kaesbach, Michael Oldridge, Andrew O.M. Wilkie, Reyhan Kömec, Stefan Mundlos

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.01 MB

english, 2000

37

Simple and Complex ABCR: Genetic Predisposition to Retinal Disease

Rando Allikmets

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 79 KB

english, 2000