Volume 99; Issue 2

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Human Genetics
Volume 99; Issue 2

Human Genetics

Volume 99; Issue 2

1

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

R. L. Nussbaum, Bonnie M. Orrison, Pasi A. Jänne, Lawrence Charnas, A. Craig Chinault

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

2

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

Masahiko Yamamoto, Takeshi Yasuda, Kiyoshi Hayasaka, A. Ohnishi, Hiroo Yoshikawa, Takehiko Yanagihara, Tohru Ikegami, Tatsunori Yamamoto, Hirofumi Ohashi, Tomoya Nishimura, Terunori Mitsuma, Hidenori

Journal:

Year:

1997

Language:

english

File:

PDF, 72 KB

english, 1997

3

Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Jae Jin Chae, Young Bae Park, Sung Han Kim, Sung Soo Hong, Gyun Jee Song, K. H. Han, Yong Namkoong, Hyo Soo Kim, C. C. Lee

Journal:

Year:

1997

Language:

english

File:

PDF, 230 KB

english, 1997

4

Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus

M. Hakoda, Naoyuki Kamatani, Sakura Kurumada, Yuko Hirai, Kimitaka Sakamoto, Hisashi Yamanaka, Chihiro Terai, Sadao Kashiwazaki

Journal:

Year:

1997

Language:

english

File:

PDF, 208 KB

english, 1997

5

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

Atsushi Nishiyori, M. Yoshino, Hirohisa Kato, Toshinobu Matsuura, Ryuuji Hoshide, Ichiro Matsuda, Tateo Kuno, Sumio Miyazaki, Shin-ichi Hirose, Ryu-ichi Kuromaru, Masataka Mori

Journal:

Year:

1997

Language:

english

File:

PDF, 139 KB

english, 1997

6

Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings

Tina Rambrand, Flemming Pociot, Kjersti Rønningen, Jørn Nerup, B. K. Michelsen, The Danish Study Group of Diabetes in Childhood

Journal:

Year:

1997

Language:

english

File:

PDF, 144 KB

english, 1997

7

Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene

B. Edman Ahlbom, Muhammad Yaqoob, Agne Larsson, Adam Ilicki, Göran Annerén, C. Wadelius

Journal:

Year:

1997

Language:

english

File:

PDF, 55 KB

english, 1997

8

Analysis of helicase gene mutations in Japanese Werner’s syndrome patients

Makaoto Goto, Osamu Imamura, Junro Kuromitsu, Takehisa Matsumoto, Yukako Yamabe, Yoshiki Tokutake, Noriyuki Suzuki, Brian Mason, Dennis Drayna, Minoru Sugawara, Masanobu Sugimoto, Y. Furuichi

Journal:

Year:

1997

Language:

english

File:

PDF, 23 KB

english, 1997

9

Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal

J. Rocha, Dalila Pinto, M. Teresa Santos, António Amorim, Jorge Amil-Dias, Fernando Cardoso-Rodrigues, Álvaro Aguiar

Journal:

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

10

A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria

M. Daimon, Eishirou Gojyou, Makoto Sugawara, Keiichi Yamatani, Makoto Tominaga, Hideo Sasaki

Journal:

Year:

1997

Language:

english

File:

PDF, 47 KB

english, 1997

11

Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2

A. M. Ferraris, Rosa Mangerini, Gian Franco Gaetani, Cristina Romei, Aldo Pinchera, Furio Pacini

Journal:

Year:

1997

Language:

english

File:

PDF, 50 KB

english, 1997

12

Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients

Vinita Singh, Shirish Sinha, Sudhish Mishra, Lakshmi Shankar Chaturvedi, Sunil Pradhan, R. D. Mittal, B. Mittal

Journal:

Year:

1997

Language:

english

File:

PDF, 25 KB

english, 1997

13

Somatic mosaicism for deletion of the entireNF1gene identified by FISH

Bai-Lin Wu, Richard G. Boles, Hana Yaari, Stanislawa Weremowicz, Gretchen H. Schneider, B. R. Korf

Journal:

Year:

1997

Language:

english

File:

PDF, 242 KB

english, 1997

14

Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy

Renée H. Martin, Scott Ernst, Alfred Rademaker, Leona Barclay, Evelyn Ko, Nancy Summers

Journal:

Year:

1997

Language:

english

File:

PDF, 31 KB

english, 1997

15

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

N. E. Beck, I. P. M. Tomlinson, Tessa Homfray, I. Frayling, Shirley V. Hodgson, Chris Harocopos, Walter F. Bodmer

Journal:

Year:

1997

Language:

english

File:

PDF, 63 KB

english, 1997

16

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1

L. Krols, Jean-Jacques Martin, Gilles David, Nicole Van Regemorter, Ali Benomar, A. Löfgren, Giovanni Stevanin, Alexandra Dürr, Alexis Brice, C. Van Broeckhoven

Journal:

Year:

1997

Language:

english

File:

PDF, 111 KB

english, 1997

17

Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12–q13.1 between PLCG1 and D20S17

Alexandros Argyrokastritis, Smaragda Kamakari, Manuela Kapsetaki, Aristidis Kritis, Iannis Talianidis, N. K. Moschonas

Journal:

Year:

1997

Language:

english

File:

PDF, 152 KB

english, 1997

18

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

H. Kehrer-Sawatzki, Jürgen Häussler, Winfrid Krone, Harald Bode, Dieter E. Jenne, Karl U. Mehnert, Ulrich Tümmers, Günter Assum

Journal:

Year:

1997

Language:

english

File:

PDF, 313 KB

english, 1997

19

A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans

Mary M. Jenkins, J. T. Prchal

Journal:

Year:

1997

Language:

english

File:

PDF, 66 KB

english, 1997

20

Mutation detection inFGFR2craniosynostosis syndromes

G. E. Hollway, Graeme K. Suthers, Eric A. Haan, Elizabeth Thompson, David J. David, Jozef Gecz, John C. Mulley

Journal:

Year:

1997

Language:

english

File:

PDF, 145 KB

english, 1997

21

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region

A. Toutain, Nathalie Ronce, Benoît Dessay, Laura Robb, Christine Francannet, Martine Le Merrer, Marie-Louise Briard, Josseline Kaplan, Claude Moraine

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

22

Localisation of a human homologue of theDrosophila mnband ratDyrkgenes to chromosome 21q22.2

Haiming Chen, Stylianos E. Antonarakis

Journal:

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

23

Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms

F. von Eggeling, Susanne Michel, Michael Günther, Bettina Schimmel, Uwe Claussen

Journal:

Year:

1997

Language:

english

File:

PDF, 50 KB

english, 1997

24

Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population

N. El-Hashemite, Mary Petrou, A. S. Khalifa, N. M. Heshmat, Magdy S. Rady, Joy D. A. Delhanty

Journal:

Year:

1997

Language:

english

File:

PDF, 271 KB

english, 1997

25

Two novel PAH gene mutations detected in Italian phenylketonuric patients

Alessandra Argiolas, Paolo Bosco, Francesco Calì, Nadia Ceratto, Guido Anello, Enrica Riva, Giacomo Biasucci, Carla Carducci, V. Romano

Journal:

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

26

Chromosomal localization of the type-I 15-PGDH gene to 4q34–q35

Franck Pichaud, Régis Delage-Mourroux, Elisabeth Pidoux, Annick Jullienne, Marie-Françoise Rousseau-Merck

Journal:

Year:

1997

Language:

english

File:

PDF, 28 KB

english, 1997

27

Transmission distortion of the mutant alleles in spinocerebellar ataxia

Olaf Riess, Jörg T. Epplen, Georgios Amoiridis, Horst Przuntek, L. Schöls

Journal:

Year:

1997

Language:

english

File:

PDF, 27 KB

english, 1997

28

Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1)

Jacqueline Hoyle, Kim H. Tan, E. M. C. Fisher

Journal:

Year:

1997

Language:

english

File:

PDF, 50 KB

english, 1997

29

Noonan syndrome with cardiac left-sided obstructive lesions

Maria Cristina Digilio, B. Marino, Aldo Giannotti, Bruno Dallapiccola

Journal:

Year:

1997

Language:

english

File:

PDF, 12 KB

english, 1997

30

Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata

T. Ogata, Tomonobu Hasegawa, Nobutake Matsuo

Journal:

Year:

1997

Language:

english

File:

PDF, 13 KB

english, 1997