Volume 103; Issue 2

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Human Genetics
Volume 103; Issue 2

Human Genetics

Volume 103; Issue 2

1

Japanese juvenile retinoschisis is caused by mutations of theXLRS1gene

Y. Hotta, Keiko Fujiki, Mutsuko Hayakawa, Takashi Ohta, Takuro Fujimaki, Kouichi Tamaki, Toshiyuki Yokoyama, Atsushi Kanai, Akito Hirakata, Tetsuo Hida, Sachiko Nishina, Noriyuki Azuma

Journal:

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

2

Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements

Arun Kumar, Laurie A. Becker, Theresa W. Depinet, J. Marie Haren, C. Lisa Kurtz, Nathaniel H. Robin, Suzanne B. Cassidy, Daynna J. Wolff, S. Schwartz

Journal:

Year:

1998

Language:

english

File:

PDF, 175 KB

english, 1998

3

A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features

Yoshiaki Tabata, Yasushi Isashiki, Kousaku Kamimura, Kumiko Nakao, N. Ohba

Journal:

Year:

1998

Language:

english

File:

PDF, 78 KB

english, 1998

4

TheSOX10/Sox10gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor

C. Pusch, Elisabeth Hustert, Dietmar Pfeifer, Peter Südbeck, Ralf Kist, Bruce Roe, Zhili Wang, Rudi Balling, Nikolaus Blin, G. Scherer

Journal:

Year:

1998

Language:

english

File:

PDF, 378 KB

english, 1998

5

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23

N. T. Bech-Hansen, Kym M. Boycott, Kathy J. Gratton, Daniel A. Ross, L. Leigh Field, William G. Pearce

Journal:

Year:

1998

Language:

english

File:

PDF, 122 KB

english, 1998

6

Characterization of the human synaptogyrin gene family

Darek Kedra, Hua-Qin Pan, Eyal Seroussi, Ingegerd Fransson, Cecile Guilbaud, John E. Collins, Ian Dunham, Elisabeth Blennow, Bruce A. Roe, Fredrik Piehl, J. P. Dumanski

Journal:

Year:

1998

Language:

english

File:

PDF, 677 KB

english, 1998

7

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)

P.-J. Svensson, Maria Anvret, Marie-Louise Molander, Agneta Nordenskjöld

Journal:

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

8

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)

K. Devriendt, Gert Matthijs, Boudewijn Van Damme, Daniel Van Caesbroeck, Michael Eccles, Yves Vanrenterghem, Jean-Pierre Fryns, Anita Leys

Journal:

Year:

1998

Language:

english

File:

PDF, 802 KB

english, 1998

9

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3′ third of the gene

Juan Dong, Jenny Chang-Claude, Yixin Wu, Valérie Schumacher, Irmgard Debatin, Patricia Tonin, Brigitte Royer-Pokora

Journal:

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

10

Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

B. Thöny, F. Neuheiser, L. Kierat, M. O. Rolland, P. Guibaud, T. Schlüter, R. Germann, R. A. Heidenreich, M. Duran, J. B. C. de Klerk, J. E. Ayling, N. Blau

Journal:

Year:

1998

Language:

english

File:

PDF, 81 KB

english, 1998

11

Genetics strongly determines the wall thickness of the left and right carotid arteries

F. Zannad, S. Visvikis, R. Gueguen, C. Sass, O. Chapet, B. Herbeth, G. Siest

Journal:

Year:

1998

Language:

english

File:

PDF, 75 KB

english, 1998

12

Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17)

H. Kurahashi, Michiko Sakamoto, Jiro Ono, Atsuko Honda, Shintaro Okada, Yusuke Nakamura

Journal:

Year:

1998

Language:

english

File:

PDF, 91 KB

english, 1998

13

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region

Myrna Saouda, Ahmad Mansour, Y. Bou Moglabey, E. El Zir, Mirna Mustapha, Hassan Chaib, A. Nehmé, André Mégarbané, Jacques Loiselet, Christine Petit, R. Slim

Journal:

Year:

1998

Language:

english

File:

PDF, 105 KB

english, 1998

14

Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

L.-J. C. Wong, Min-Hui Liang, Wuh-Liang Hwu, Ching-Wan Lam

Journal:

Year:

1998

Language:

english

File:

PDF, 72 KB

english, 1998

15

Extensive polymorphism of theFUT2gene in an African (Xhosa) population of South Africa

Yuhua Liu, Yoshiro Koda, Mikiko Soejima, H. Pang, Terry Schlaphoff, Ernette D. du Toit, H. Kimura

Journal:

Year:

1998

Language:

english

File:

PDF, 110 KB

english, 1998

16

A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus

Kenneth K. Kidd, Bharti Morar, Carmela M. Castiglione, Hongyu Zhao, Andrew J. Pakstis, William C. Speed, Batsheva Bonne-Tamir, Ru-Band Lu, David Goldman, Chaeyoung Lee, Yong Suk Nam, David K. Grandy,

Journal:

Year:

1998

Language:

english

File:

PDF, 268 KB

english, 1998

17

Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA

David S. Millar, Michael Krawczak, D. N. Cooper

Journal:

Year:

1998

Language:

english

File:

PDF, 90 KB

english, 1998

18

An ecological study of association between coronary heart disease mortality rates in men and the relative frequencies of common allelic variations in the gene coding for apolipoprotein E

J. H. Stengård, Kenneth M. Weiss, Charles F. Sing

Journal:

Year:

1998

Language:

english

File:

PDF, 103 KB

english, 1998

19

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

P. J. Ainsworth, C. F. Bolton, B. C. Murphy, J. A. Stuart, A. F. Hahn

Journal:

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

20

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

J. Smeitink, J. Loeffen, Roel Smeets, Ralf Triepels, W. Ruitenbeek, Frans Trijbels, L. van den Heuvel

Journal:

Year:

1998

Language:

english

File:

PDF, 150 KB

english, 1998

21

Gene therapy for neurological disorders and brain tumors: E. A. Chiocca and X. O. Breakefield (Editors)

P. R. Lowenstein

Journal:

Year:

1998

Language:

english

File:

PDF, 41 KB

english, 1998

22

Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome

Hidewaki Nakagawa, Kumiko Koyama, Yasuo Miyoshi, Hiroshi Ando, Shozo Baba, Masahiro Watatani, Masayuki Yasutomi, Nariaki Matsuura, Morito Monden, Y. Nakamura

Journal:

Year:

1998

Language:

english

File:

PDF, 237 KB

english, 1998

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