Volume 66; Issue 5

The American Journal of Human Genetics

Volume 66; Issue 5

1

Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A. Wanderer, Richard D. Kolodner

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 236 KB

english, 2000

2

An Optimized Probe Set for the Detection of Small Interchromosomal Aberrations by Use of 24-Color FISH

Jorge Azofeifa, Christine Fauth, Jürgen Kraus, Christine Maierhofer, Sabine Langer, Andreas Bolzer, Jay Reichman, Simone Schuffenhauer, Michael R. Speicher

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 838 KB

english, 2000

3

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13

Federico Zara, Elena Gennaro, Mariano Stabile, Ilaria Carbone, Michela Malacarne, Luigi Majello, Roberto Santangelo, Fabrizio Antonio de Falco, Franca Dagna Bricarelli

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 201 KB

english, 2000

4

Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome

Mark R.H. Buddles, Rosemary L. Donne, Anna Richards, Judith Goodship, Timothy H.J. Goodship

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 130 KB

english, 2000

5

Comparative Genomic Hybridization in Combination with Flow Cytometry Improves Results of Cytogenetic Analysis of Spontaneous Abortions

Brenda Lomax, Steven Tang, Evica Separovic, Don Phillips, E. Hillard, Tom Thomson, Dagmar K. Kalousek

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 168 KB

english, 2000

6

Detection of the Signature of Natural Selection in Humans: Evidence from the Duffy Blood Group Locus

Martha T. Hamblin, Anna Di Rienzo

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 252 KB

english, 2000

7

Reply to Buddles et al.

Val C. Sheffield, Lihua Ying, Rivka Carmi, Daniel Landau

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 106 KB

english, 2000

8

Analysis of Human Genetic Linkage, Third Edition. By Jurg Ott. Baltimore and London: The Johns Hopkins University Press, 1999. Pp. 405. $55.00.

Michael Boehnke

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 72 KB

english, 2000

9

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

10

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

11

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

12

Erratum

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

13

Announcements

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 88 KB

english, 2000

14

This Month in the Journal

Kathryn Beauregard

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 121 KB

english, 2000

15

Power Comparison of Parametric and Nonparametric Linkage Tests in Small Pedigrees

Pak Chung Sham, Ming-Wei Lin, Jing Hua Zhao, David Curtis

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 208 KB

english, 2000

16

Equivalence of Single- and Multilocus Markers: Power to Detect Linkage with Composite Markers Derived from Biallelic Loci

Alexander F. Wilson, Alexa J.M. Sorant

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 187 KB

english, 2000

17

Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications

Shrawan Kumar, Karen Deffenbacher, Henri A.M. Marres, Cor W.R.J. Cremers, William J. Kimberling

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 797 KB

english, 2000

18

Power of Linkage versus Association Analysis of Quantitative Traits, by Use of Variance-Components Models, for Sibship Data

P.C. Sham, S.S. Cherny, S. Purcell, J.K. Hewitt

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 257 KB

english, 2000

19

Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, in Beckwith-Wiedemann Syndrome

M. Alders, A. Ryan, M. Hodges, J. Bliek, A.P. Feinberg, O. Privitera, A. Westerveld, P.F.R. Little, M. Mannens

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.45 MB

english, 2000

20

Effects of Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens–Associated Mutations on Cystic Fibrosis Transmembrane Conductance Regulator–Mediated Regulation of Separate Channels

John E. Mickle, MichałI. Milewski, Milan Macek, Garry R. Cutting

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 475 KB

english, 2000

21

DNA Pooling in Mutation Detection with Reference to Sequence Analysis

Christopher I. Amos, Marsha L. Frazier, Wenfu Wang

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 152 KB

english, 2000

22

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud L. Touraine, Tania Attié-Bitach, Eric Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Féréchté Encha-Razavi, Anna Pelet, Joelle Augé, Annie Nivelon-Chevallier, Alexander Mathias Hols

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 799 KB

english, 2000

23

Localization of the Fanconi Anemia Complementation Group D Gene to a 200-kb Region on Chromosome 3p25.3

James A. Hejna, Cynthia D. Timmers, Carol Reifsteck, Donald A. Bruun, Lora W. Lucas, Petra M. Jakobs, SuEllen Toth-Fejel, Nancy Unsworth, Susan L. Clemens, Dawn K. Garcia, Susan L. Naylor, Mathew J. T

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 516 KB

english, 2000

24

Composite Statistics for QTL Mapping with Moderately Discordant Sibling Pairs

William F. Forrest, Eleanor Feingold

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 421 KB

english, 2000

25

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3-12.1

Gül Nihan Kavaslar, Suna Önengüt, Orhan Derman, Ahmet Kaya, Aslıhan Tolun

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 312 KB

english, 2000

26

Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

D.M. Hagan, A.J. Ross, T. Strachan, S.A. Lynch, V. Ruiz-Perez, Y.M. Wang, P. Scambler, E. Custard, W. Reardon, S. Hassan, M. Muenke, P. Nixon, C. Papapetrou, R.M. Winter, Y. Edwards, K. Morrison, M. B

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.55 MB

english, 2000

27

A Unified Sampling Approach for Multipoint Analysis of Qualitative and Quantitative Traits in Sib Pairs

Kung-Yee Liang, Chiung-Yu Huang, Terri H. Beaty

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 243 KB

english, 2000

28

The Ile198Thr and Ala379Val Variants of Plasmatic Paf-Acetylhydrolase Impair Catalytical Activities and Are Associated with Atopy and Asthma

Susanne Kruse, Xiao-Quan Mao, Andrea Heinzmann, Sabine Blattmann, Mark H. Roberts, Sandra Braun, Pei-Song Gao, Johannes Forster, Joachim Kuehr, Julian M. Hopkin, Taro Shirakawa, Klaus A. Deichmann

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

29

The Mutation Rate in the Human mtDNA Control Region

Sigrún Sigurðardóttir, Agnar Helgason, Jeffrey R. Gulcher, Kári Stefansson, Peter Donnelly

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.38 MB

english, 2000

30

Glycerol as a Correlate of Impaired Glucose Tolerance: Dissection of a Complex System by Use of a Simple Genetic Trait

Daniel Gaudet, Steve Arsenault, Louis Pérusse, Marie-Claude Vohl, Julie St.-Pierre, Jean Bergeron, Jean-Pierre Després, Ken Dewar, Mark J. Daly, Tom Hudson, John D. Rioux

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 433 KB

english, 2000

31

Linkage of a Gene for Familial Hypobetalipoproteinemia to Chromosome 3p21.1-22

B. Yuan, R. Neuman, S.H. Duan, J.L. Weber, P.Y. Kwok, N.L. Saccone, J.S. Wu, K.-Y. Liu, G. Schonfeld

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 495 KB

english, 2000

32

Characteristics and Frequency of Germline Mutations at Microsatellite Loci from the Human Y Chromosome, as Revealed by Direct Observation in Father/Son Pairs

Manfred Kayser, Lutz Roewer, Minttu Hedman, Lotte Henke, Jürgen Henke, Silke Brauer, Carmen Krüger, Michael Krawczak, Marion Nagy, Tadeusz Dobosz, Reinhard Szibor, Peter de Knijff, Mark Stoneking, Ant

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 316 KB

english, 2000

33

Association between the Surfactant Protein A (SP-A) Gene Locus and Respiratory-Distress Syndrome in the Finnish Population

Mika Rämet, Ritva Haataja, Riitta Marttila, Joanna Floros, Mikko Hallman

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 286 KB

english, 2000

34

Women with a Reduced Ovarian Complement May Have an Increased Risk for a Child with Down Syndrome

Sallie B. Freeman, Quanhe Yang, Katherine Allran, Lisa F. Taft, Stephanie L. Sherman

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 134 KB

english, 2000

35

Evidence for a New Graves Disease Susceptibility Locus at Chromosome 18q21

Bijayeswar Vaidya, Helen Imrie, Petros Perros, Eric T. Young, William F. Kelly, David Carr, David M. Large, Anthony D. Toft, Pat Kendall-Taylor, Simon H.S. Pearce

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 178 KB

english, 2000

36

Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

Andrew Escayg, Michel De Waard, David D. Lee, Delphine Bichet, Peter Wolf, Thomas Mayer, Janine Johnston, Robert Baloh, Thomas Sander, Miriam H. Meisler

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 731 KB

english, 2000

37

Persistent Heteroplasmy of a Mutation in the Human mtDNA Control Region: Hypermutation as an Apparent Consequence of Simple-Repeat Expansion/Contraction

Neil Howell, Christy Bogolin Smejkal

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

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