Volume 64; Issue 2

The American Journal of Human Genetics

Volume 64; Issue 2

1

Comparison of the Power and Accuracy of Biallelic and Microsatellite Markers in Population-Based Gene-Mapping Methods

Momiao Xiong, Li Jin

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 470 KB

english, 1999

2

Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

T. Ohta, K. Buiting, H. Kokkonen, S. McCandless, S. Heeger, H. Leisti, D.J. Driscoll, S.B. Cassidy, B. Horsthemke, R.D. Nicholls

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 924 KB

english, 1999

3

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

T. Ohta, T.A. Gray, P.K. Rogan, K. Buiting, J.M. Gabriel, S. Saitoh, B. Muralidhar, B. Bilienska, M. Krajewska-Walasek, D.J. Driscoll, B. Horsthemke, M.G. Butler, R.D. Nicholls

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.83 MB

english, 1999

4

Linkage of Low-Density Lipoprotein Size to the Lipoprotein Lipase Gene in Heterozygous Lipoprotein Lipase Deficiency

John E. Hokanson, John D. Brunzell, Gail P. Jarvik, Ellen M. Wijsman, Melissa A. Austin

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 924 KB

english, 1999

5

A Novel 22q11.2 Microdeletion in DiGeorge Syndrome

Anita Rauch, Rudolf A. Pfeiffer, Georg Leipold, Helmut Singer, Monika Tigges, Michael Hofbeck

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 730 KB

english, 1999

6

Mosaicism and Sporadic Familial Adenomatous Polyposis

Susan M. Farrington, Malcolm G. Dunlop

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 533 KB

english, 1999

7

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell, C.G. Woods, N.J. Lench, R.F. Mueller, A.F. Markham

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 955 KB

english, 1999

8

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Jürgen Kohlhase, Peter E.M. Taschner, Peter Burfeind, Bastian Pasche, Bill Newman, Christopher Blanck, Martijn H. Breuning, Leo P. ten Kate, Petra Maaswinkel-Mooy, Beate Mitulla, Jörg Seidel, Susan J.

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 628 KB

english, 1999

9

Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13

L. Baala, S. Hadj Rabia, J. Zlotogora, K. Kabbaj, H. Chhoul, A. Munnich, S. Lyonnet, A. Sefiani

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 522 KB

english, 1999

10

DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

Lorraine Potocki, Ken-Shiung Chen, Thearith Koeuth, James Killian, Susan T. Iannaccone, Stuart K. Shapira, Catherine D. Kashork, Aimee S. Spikes, Lisa G. Shaffer, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 281 KB

english, 1999

11

Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy

Marco Seri, Roberto Cusano, Paola Forabosco, Roberta Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, Ca

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 717 KB

english, 1999

12

The Central Siberian Origin for Native American Y Chromosomes

Fabrício R. Santos, Arpita Pandya, Chris Tyler-Smith, Sérgio D.J. Pena, Moses Schanfield, William R. Leonard, Ludmila Osipova, Michael H. Crawford, R. John Mitchell

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 754 KB

english, 1999

13

Mapping of a Familial Moyamoya Disease Gene to Chromosome 3p24.2-p26

Hidetoshi Ikeda, Toru Sasaki, Takashi Yoshimoto, Masashi Fukui, Tadao Arinami

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 289 KB

english, 1999

14

Congenital Motor Nystagmus Linked to Xq26-q27

John B. Kerrison, M. Reza Vagefi, M. Michael Barmada, Irene H. Maumenee

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.37 MB

english, 1999

15

De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

Michael Oldridge, Elaine H. Zackai, Donna M. McDonald-McGinn, Sachiko Iseki, Gillian M. Morriss-Kay, Stephen R.F. Twigg, David Johnson, Steven A. Wall, Wen Jiang, Christiane Theda, Ethylin Wang Jabs,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.28 MB

english, 1999

16

Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27

Hans van Bokhoven, Martin Jung, Arie P.T. Smits, Sylvia van Beersum, Franz Rüschendorf, Maurice van Steensel, Monique Veenstra, Joep H.A.M. Tuerlings, Edwin C.M. Mariman, Han G. Brunner, Thomas F. Wie

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 793 KB

english, 1999

17

Mapping of a New Autosomal Dominant Spinocerebellar Ataxia to Chromosome 22

Lan Zu, Karla P. Figueroa, Raji Grewal, Stefan-M. Pulst

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 591 KB

english, 1999

18

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

Alison L. Evans, Glen Brice, Vihra Sotirova, Peter Mortimer, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Child, Mansoor Sarfarazi

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.45 MB

english, 1999

19

Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation

Yaoqin Gong, David Chitayat, Bronwyn Kerr, Taiping Chen, Riyana Babul-Hirji, Adatiya Pal, Michael Reiss, Matthew L. Warman

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 704 KB

english, 1999

20

DNA Variation in a 5-Mb Region of the X Chromosome and Estimates of Sex-Specific/Type-Specific Mutation Rates

Theodore Anagnostopoulos, Peter M. Green, Gabriella Rowley, Cathryn M. Lewis, Francesco Giannelli

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.27 MB

english, 1999

21

Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease

Richard Alan Lewis, Noah F. Shroyer, Nanda Singh, Rando Allikmets, Amy Hutchinson, Yixin Li, James R. Lupski, Mark Leppert, Michael Dean

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 2.79 MB

english, 1999

22

Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7

Marcy C. Speer, Jeffery M. Vance, Janet M. Grubber, Felicia Lennon Graham, Jeffrey M. Stajich, Kristi D. Viles, Allison Rogala, Robert McMichael, Jerry Chutkow, Claire Goldsmith, Richard W. Tim, Marga

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.66 MB

english, 1999

23

Power of Association and Linkage Tests When the Disease Alleles Are Unobserved

I-Ping Tu, Alice S. Whittemore

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 898 KB

english, 1999

24

RB1 Gene Mutations in Peripheral Blood DNA of Patients with Isolated Unilateral Retinoblastoma

Martina Klutz, Bernhard Horsthemke, Dietmar R. Lohmann

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

25

Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity

Michael Oldridge, I. Karen Temple, Heloisa G. Santos, Richard J. Gibbons, Zehra Mustafa, Kay E. Chapman, John Loughlin, Andrew O.M. Wilkie

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 716 KB

english, 1999

26

High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands

Patrizia Rizzu, John C. Van Swieten, Marijke Joosse, Masato Hasegawa, Martijn Stevens, Aad Tibben, Martinus F. Niermeijer, Marcel Hillebrand, Rivka Ravid, Ben A. Oostra, Michel Goedert, Cornelia M. va

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 167 KB

english, 1999

27

HPS Gene Mutations in Hermansky-Pudlak Syndrome

Richard A. Spritz, Jangsuk Oh

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

28

Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q

Peter Hedera, Shirley Rainier, David Alvarado, Xinping Zhao, Jeffery Williamson, Brith Otterud, Mark Leppert, John K. Fink

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 706 KB

english, 1999

29

Hyperparathyroidism–Jaw Tumor Syndrome: The HRPT2 Locus Is within a 0.7-cM Region on Chromosome 1q

Maurine R. Hobbs, Ann R. Pole, Gregory N. Pidwirny, Irving B. Rosen, Richard J. Zarbo, Hilary Coon, Hunter Heath III, Mark Leppert, Charles E. Jackson

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.31 MB

english, 1999

30

Prevalence and Phenotype Consequence of FRAXA and FRAXE Alleles in a Large, Ethnically Diverse, Special Education–Needs Population

Dana C. Crawford, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Dorothy L. Pettay, Laura B. Gold, S. Jane Hersey, Elizabeth F. Hinkle, Mary L. Stanfield, Patricia Holmgreen, Marshalyn Yeargin-Alls

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

31

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, Simon Olpin, Ben J.H.M. Poorthuis, Hans R. Scholte, Christine Vianey-Saban, Ronald Wanders, Lodewijk Ijlst, Andrew Morris, Morteza Pourfarzam, Kim Bartlett, E. Regula Baumgar

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 234 KB

english, 1999

32

Inherited Colorectal Polyposis and Cancer Risk of the APC I1307K Polymorphism

Robert Gryfe, Nando Di Nicola, Geeta Lal, Steven Gallinger, Mark Redston

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 323 KB

english, 1999

33

Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

Travis M. Wohlers, Nicole C. Christacos, Michelle T. Harreman, Judith L. Fridovich-Keil

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 633 KB

english, 1999

34

Eugenics and the Misuse of Genetic Information to Restrict Reproductive Freedom: Board of Directors of the American Society of Human Genetics

Philip R. Reilly

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 57 KB

english, 1999

35

TDT Clarification

Richard S. Spielman, Warren J. Ewens

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

36

Overgrowth Syndromes and the Regulation of Signaling Complexes by Proteoglycans

Scott B. Selleck

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 196 KB

english, 1999

37

Fragile Sites—Cytogenetic Similarity with Molecular Diversity

Grant R. Sutherland, Robert I. Richards

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 172 KB

english, 1999

38

Myotonic Dystrophy: The Role of RNA CUG Triplet Repeats

Lubov T. Timchenko

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 198 KB

english, 1999

39

Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold

Henry L. Paulson

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

40

The Yeast Connection to Friedreich Ataxia

Simon A.B. Knight, Roy Kim, Debkumar Pain, Andrew Dancis

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 243 KB

english, 1999

41

Biological Implications of the DNA Structures Associated with Disease-Causing Triplet Repeats

Richard R. Sinden

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.03 MB

english, 1999

42

Announcements

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 41 KB

english, 1999

43

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 48 KB

english, 1999