Volume 102; Issue 4

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Human Genetics
Volume 102; Issue 4

Human Genetics

Volume 102; Issue 4

1

Germ line mosaicism

Joël Zlotogora

Journal:

Year:

1998

Language:

english

File:

PDF, 79 KB

english, 1998

2

Analysis of the humanSonic Hedgehogcoding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

F. R. Vargas, E. Roessler, Karin Gaudenz, E. Belloni, Alexander S. Whitehead, Peader N. Kirke, James L. Mills, George Hooper, Roger E. Stevenson, Isabel Cordeiro, Patricia Correia, Temis Felix, Rani G

Journal:

Year:

1998

Language:

english

File:

PDF, 159 KB

english, 1998

3

Analysis of HLA-DQ α sequences for prenatal diagnosis in single fetal cells from maternal blood

A. Sekizawa, Atsushi Taguchi, Akira Watanabe, Takehiko Kimura, Hiroshi Saito, Takumi Yanaihara, Takeshi Sato

Journal:

Year:

1998

Language:

english

File:

PDF, 141 KB

english, 1998

4

Telomeric length and telomerase activity vary with age in peripheral blood cells obtained from normal individuals

Hiroshi Iwama, K. Ohyashiki, Junko H. Ohyashiki, Shigifumi Hayashi, Naoyuki Yahata, Keiko Ando, Keisuke Toyama, Akinori Hoshika, Masaru Takasaki, Mayumi Mori, Jerry W. Shay

Journal:

Year:

1998

Language:

english

File:

PDF, 112 KB

english, 1998

5

Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5

Y. Ejima, Masao S. Sasaki

Journal:

Year:

1998

Language:

english

File:

PDF, 376 KB

english, 1998

6

Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin

I. Sbrana, Patrizia Zavattari, Roberto Barale, Antonio Musio

Journal:

Year:

1998

Language:

english

File:

PDF, 195 KB

english, 1998

7

Interplay between humans and infective agents: a population genetic study

C. Fischer, Brigitte Jock, Friedrich Vogel

Journal:

Year:

1998

Language:

english

File:

PDF, 177 KB

english, 1998

8

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinasePHKA2gene

Barbara Burwinkel, Lluis Amat, R. George F. Gray, Nobutake Matsuo, Koji Muroya, Kuniaki Narisawa, Ronald J. Sokol, M. A. Vilaseca, M. W. Kilimann

Journal:

Year:

1998

Language:

english

File:

PDF, 193 KB

english, 1998

9

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

S. Kure, Hanna Mandel, Marie-Odile Rolland, Yoshiyuki Sakata, Toshikatsu Shinka, Aryeb Drugan, Avihu Boneh, Keiya Tada, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1998

Language:

english

File:

PDF, 131 KB

english, 1998

10

Genomic organization and mutational analysis ofHERG, a gene responsible for familial long QT syndrome

Toshio Itoh, T. Tanaka, Ryozo Nagai, Tetsuro Kamiya, Toshitami Sawayama, Toshio Nakayama, Hitonobu Tomoike, Harumizu Sakurada, Yoshio Yazaki, Yusuke Nakamura

Journal:

Year:

1998

Language:

english

File:

PDF, 180 KB

english, 1998

11

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

K. Grønskov, Anni Hallberg, Karen Brøndum-Nielsen

Journal:

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

12

Molecular analysis of the chromosomal equipment in spermatoza of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization

S. Mercier, F. Morel, F. Fellman, C. Roux, J. L. Bresson

Journal:

Year:

1998

Language:

english

File:

PDF, 180 KB

english, 1998

13

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

M. Schwartz, Ernst Christensen, Andrea Superti-Furga, Niels Jacob Brandt

Journal:

Year:

1998

Language:

english

File:

PDF, 474 KB

english, 1998

14

Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation

M. Gomez-Lira, Chiara Perusi, Monica Mottes, Pier Franco Pignatti, Michela Manfredi, Nicolò Rizzuto, Alessandro Salviati

Journal:

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

15

Three novel KCNA1 mutations in episodic ataxia type I families

H. Scheffer, E. R. P. Brunt, G. J. J. Mol, P. van der Vlies, Stulp, E. Verlind, G. Mantel, Y. N. Averyanov, R. M. W. Hofstra, C. H. C. M. Buys

Journal:

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

16

The genetic basis of Cowden’s syndrome: three novel mutations in PTEN/MMAC1/TEP1

H. C. Tsou, Xiao Li Ping, Xiao Xun Xie, Alexandra C. Gruener, Hong Zhang, R. Nini, Karen Swisshelm, Virginia Sybert, Terry M. Diamond, Rebecca Sutphen, M. Peacocke

Journal:

Year:

1998

Language:

english

File:

PDF, 522 KB

english, 1998

17

Mutational analysis of the GDNF/RET-GDNFRαsignaling complex in a kindred with vesicoureteral reflux

Sarah E. Shefelbine, Sangeeta Khorana, Pamela N. Schultz, Eileen Huang, Nicole Thobe, Zheng J. Hu, Gary M. Fox, Shuqian Jing, Gilbert J. Cote, R. F. Gagel

Journal:

Year:

1998

Language:

english

File:

PDF, 149 KB

english, 1998

18

High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis

M. G. Baroni, M. Pina D’Andrea, Francesca Capici, Raffaella Buzzetti, M. Gisella Cavallo, Franco Fallucca, Claudio Giovannini, Paolo Pozzilli

Journal:

Year:

1998

Language:

english

File:

PDF, 105 KB

english, 1998

19

Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users

V. Alvarez, Carlos López-Larrea, Eliecer Coto

Journal:

Year:

1998

Language:

english

File:

PDF, 91 KB

english, 1998

20

UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients

David C. Y. Fung, Bing Yu, K. F. Cheong, Arabella Smith, R. J. Trent

Journal:

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

21

Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q

Su-ying Xu, Thomas Rosenberg, A. Gal

Journal:

Year:

1998

Language:

english

File:

PDF, 59 KB

english, 1998

22

Eratum: Hum Genet (1998) 102: 145–150

Journal:

Year:

1998

Language:

english

File:

PDF, 44 KB

english, 1998

23

Erratum: Hum Genet (1996) 98: 430–436

Journal:

Year:

1998

Language:

english

File:

PDF, 42 KB

english, 1998

24

Gene symbol: COL11A1 Disease: Marshall Syndrome

M. H. Meisler, A. J. Griffith, M. Warman, G. Tiller, L. K. Sprunger

Journal:

Year:

1998

File:

PDF, 41 KB

1998

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