Volume 62; Issue 4

The American Journal of Human Genetics

Volume 62; Issue 4

1

OA1 Mutations and Deletions in X-Linked Ocular Albinism

Rhonda E. Schnur, Mei Gao, Penelope A. Wick, Margaret Keller, Paul J. Benke, Matthew J. Edwards, Arthur W. Grix, Athel Hockey, Jack H. Jung, Kenneth K. Kidd, Mildred Kistenmacher, Alex V. Levin, Richa

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 234 KB

english, 1998

2

Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15

A.E. Wandstrat, J. Leana-Cox, L. Jenkins, S. Schwartz

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 284 KB

english, 1998

3

Genetic Skin Disorders

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 19 KB

english, 1998

4

Using Neural Networks as an Aid in the Determination of Disease Status: Comparison of Clinical Diagnosis to Neural-Network Predictions in a Pedigree with Autosomal Dominant Limb-Girdle Muscular Dystrophy

Catherine T. Falk, James M. Gilchrist, Margaret A. Pericak-Vance, Marcy C. Speer

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 208 KB

english, 1998

5

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Kym M. Boycott, William G. Pearce, Maria A. Musarella, Richard G. Weleber, Tracy A. Maybaum, David G. Birch, Yozo Miyake, Rockefeller S.L. Young, N. Torben Bech-Hansen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 407 KB

english, 1998

6

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Yao-Hua Zhang, Weiwen Guo, Richard L. Wagner, Bing-Ling Huang, Linda McCabe, Eric Vilain, Thomas P. Burris, Kwame Anyane-Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Jos

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 404 KB

english, 1998

7

The Quantitative LOD Score: Test Statistic and Sample Size for Exclusion and Linkage of Quantitative Traits in Human Sibships

Grier P. Page, Christopher I. Amos, Eric Boerwinkle

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

8

Determinism and Mass-Media Portrayals of Genetics

Celeste M. Condit, Nneka Ofulue, Kristine M. Sheedy

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 58 KB

english, 1998

9

No Evidence for Significant Linkage between Bipolar Affective Disorder and Chromosome 18 Pericentromeric Markers in a Large Series of Multiplex Extended Pedigrees

James A. Knowles, Peter A. Rao, Tara Cox-Matise, Jo Ellen Loth, Gracielle M. de Jesus, Laura Levine, Kamna Das, Graciela K. Penchaszadeh, Joyce R. Alexander, Bernard Lerer, Jean Endicott, Jurg Ott, T.

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 211 KB

english, 1998

10

Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2

Yong Liang, Aihui Wang, Frank J. Probst, I. Nyoman Arhya, Thomas D. Barber, Ken-Shiung Chen, Dilip Deshmukh, David F. Dolan, John T. Hinnant, Lynn E. Carter, Pawan K. Jain, Anil K. Lalwani, Xiaoyan C.

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 989 KB

english, 1998

11

Genetic Association Mapping Based on Discordant Sib Pairs: The Discordant-Alleles Test

Michael Boehnke, Carl D. Langefeld

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 182 KB

english, 1998

12

The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II

Jeffrey A. Becker, John Vlach, Nina Raben, Kanneboyina Nagaraju, Elizabeth M. Adams, Monique M. Hermans, Arnold J.J. Reuser, Susan Sklower Brooks, Cynthia J. Tifft, Rochelle Hirschhorn, Maryann L. Hui

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 144 KB

english, 1998

13

Marshall Syndrome Associated with a Splicing Defect at the COL11A1 Locus

Andrew J. Griffith, Leslie K. Sprunger, D. Alexa Sirko-Osadsa, George E. Tiller, Miriam H. Meisler, Matthew L. Warman

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 341 KB

english, 1998

14

Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)

Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz, Shimon W. Moses, Yoon S. Shin, Manfred W. Kilimann

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 660 KB

english, 1998

15

HLA and Mate Choice

Thomas J. Gill III

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 20 KB

english, 1998

16

Linkage Thresholds for Two-stage Genome Scans

Leonid Kruglyak, Mark J. Daly

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

17

Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13

John Mulley, Kathrin Saar, Gerry Hewitt, Franz Rüschendorf, Hilary Phillips, Alison Colley, David Sillence, André Reis, Meredith Wilson

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 286 KB

english, 1998

18

Refined Genetic Mapping of the Darier Locus to a

Sarah Monk, Anavaj Sakuntabhai, Simon A. Carter, Steven D. Bryce, Roger Cox, Louise Harrington, Elaine Levy, Victor L. Ruiz-Perez, Eleni Katsantoni, Ahmer Kodvawala, Colin S. Munro, Susan Burge, Marc

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.26 MB

english, 1998

19

Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with Pycnodysostosis

Bruce D. Gelb, Judith P. Willner, Teresa M. Dunn, Nataline B. Kardon, Alain Verloes, Jacques Poncin, Robert J. Desnick

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998

20

Polymorphic Detection of a Parthenogenetic Maternal and Double Paternal Contribution to a 46,XX/46,XY Hermaphrodite

Jacques C. Giltay, Tibor Brunt, Frits A. Beemer, Jan-Maarten Wit, Hans Kristian Ploos van Amstel, Peter L. Pearson, Cisca Wijmenga

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 227 KB

english, 1998

21

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

Thomas C. Hart, Debora Pallos, Donald W. Bowden, Joey Bolyard, Mark J. Pettenati, Jose R. Cortelli

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 431 KB

english, 1998

22

A PCR Amplification Method Reveals Instability of the Dodecamer Repeat in Progressive Myoclonus Epilepsy (EPM1) and No Correlation between the Size of the Repeat and Age at Onset

Maria D. Lalioti, Hamish S. Scott, Pierre Genton, Djamel Grid, Réda Ouazzani, Amel M'Rabet, Sadi Ibrahim, Riadh Gouider, Charlotte Dravet, Taieb Chkili, Armand Bottani, Catherine Buresi, Alain Malafos

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 265 KB

english, 1998

23

A Locus for Autosomal Recessive Hypodontia with Associated Dental Anomalies Maps to Chromosome 16q12.1

Wasim Ahmad, Valeria Brancolini, Muhammad Faiyaz ul Haque, HaMut Lam, Sayed ul Haque, Mahmud Haider, Aijaz Maimon, Vincent M. Aita, Jason Owen, Donna Brown, David J. Zegarelli, Mahmud Ahmad, Jurg Ott,

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 340 KB

english, 1998

24

Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis

Y. M. Dennis Lo, Mark S.C. Tein, Tze K. Lau, Christopher J. Haines, Tse N. Leung, Priscilla M.K. Poon, James S. Wainscoat, Philip J. Johnson, Allan M.Z. Chang, N. Magnus Hjelm

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 397 KB

english, 1998

25

Reply to Gill

Lowell R. Weitkamp, Carole Ober

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 42 KB

english, 1998

26

A Log-Linear Approach to Case-Parent–Triad Data: Assessing Effects of Disease Genes That Act Either Directly or through Maternal Effects and That May Be Subject to Parental Imprinting

C.R. Weinberg, A.J. Wilcox, R.T. Lie

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 103 KB

english, 1998

27

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

Elisabet Ars, Helena Kruyer, Antonia Gaona, Pilar Casquero, Jordi Rosell, Víctor Volpini, Eduard Serra, Conxi Lázaro, Xavier Estivill

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 310 KB

english, 1998

28

Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis

Teresa A. Smolarek, Lisa L. Wessner, Francis X. McCormack, Johanna C. Mylet, Anil G. Menon, Elizabeth Petri Henske

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 206 KB

english, 1998

29

Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

D. Beltrán-Valero de Bernabé, B. Granadino, I. Chiarelli, B. Porfirio, E. Mayatepek, R. Aquaron, M.M. Moore, J.J.M. Festen, R. Sanmartí, M.A. Peñalva, S. Rodríguez de Córdoba

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 209 KB

english, 1998

30

Identification of Constitutional WT1 Mutations, in Patients with Isolated Diffuse Mesangial Sclerosis, and Analysis of Genotype/Phenotype Correlations by Use of a Computerized Mutation Database

C. Jeanpierre, E. Denamur, I. Henry, M.-O. Cabanis, S. Luce, A. Cécille, J. Elion, M. Peuchmaur, C. Loirat, P. Niaudet, M.-C. Gubler, C. Junien

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 305 KB

english, 1998

31

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

P.M. Kelley, D.J. Harris, B.C. Comer, J.W. Askew, T. Fowler, S.D. Smith, W.J. Kimberling

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 386 KB

english, 1998

32

Response to Kruglyak

Stephen Sawcer, Hywel B. Jones, David Clayton

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 32 KB

english, 1998

33

Fetal DNA in Maternal Plasma: The Plot Thickens and the Placental Barrier Thins

Diana W. Bianchi

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 44 KB

english, 1998

34

Are We Ready to Try to Cure Alkaptonuria?

Bert N. La Du Jr.

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

35

Mitochondrial Dysfunction in Idiopathic Parkinson Disease

W. Davis Parker Jr., Russell H. Swerdlow

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 134 KB

english, 1998

36

Announcements

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 32 KB

english, 1998

37

This Month in the Journal

John Ashkenas Editorial Fellow

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

38

Handbook of Psychiatric Genetics

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 29 KB

english, 1998

39

Is the Bottleneck Cracked?

J. Poulton, V. Macaulay, D.R. Marchington

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 252 KB

english, 1998

40

The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 174 KB

english, 1998