Works matching IS 00099163 AND DT 2000 AND VI 58 AND IP 6

Results: 12

Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 460, doi. 10.1034/j.1399-0004.2000.580606.x

By:

Collins, V;
Halliday, J;
Warren, R;
Williamson, R

Publication type:

Article

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 473, doi. 10.1034/j.1399-0004.2000.580608.x

By:

Mégarbané, A;
Mustapha, M;
Bleik, J;
Waked, N;
Delague, V;
Loiselet, J

Publication type:

Article

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 483, doi. 10.1034/j.1399-0004.2000.580610.x

By:

de Vries, Bba;
Bitner-Glindzicz, M;
Knight, Sjl;
Tyson, J;
MacDermot, Kd;
Flint, J;
Malcolm, S;
Winter, Rm

Publication type:

Article

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 479, doi. 10.1034/j.1399-0004.2000.580609.x

By:

Peverall, J;
Edkins, E;
Goldblatt, J;
Murch, A

Publication type:

Article

Ectodermal dysplasias: not only ‘skin’ deep.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 415, doi. 10.1034/j.1399-0004.2000.580601.x

By:

Priolo, M;
Silengo, M;
Lerone, M;
Ravazzolo, R

Publication type:

Article

Factors influencing sib risks for Multiple Sclerosis.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 431, doi. 10.1034/j.1399-0004.2000.580602.x

By:

Sadovnick, AD;
Yee, IML;
Ebers, GC

Publication type:

Article

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 436, doi. 10.1034/j.1399-0004.2000.580603.x

By:

Peñaherrera, Ms;
Barrett, IJ;
Brown, CJ;
Langlois, S;
Yong, S-L;
Lewis, S;
Bruyère, H;
Howard-Peebles, PN;
Kalousek, DK;
Robinson, WP

Publication type:

Article

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 447, doi. 10.1034/j.1399-0004.2000.580604.x

By:

Järvinen, O;
Hietala, M;
Aalto, A-M;
Arvio, M;
Uutela, A;
Aula, P;
Kääriäinen, H

Publication type:

Article

Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β-synthase gene on plasma homocysteine levels.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 455, doi. 10.1034/j.1399-0004.2000.580605.x

By:

Aras, Ö;
Hanson, NQ;
Yang, F;
Tsai, MY

Publication type:

Article

Segregation of a supernumerary del(15) marker chromosome in sperm.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 488, doi. 10.1034/j.1399-0004.2000.580611.x

By:

Cotter, PD;
Ko, E;
Larabell, SK;
Rademaker, AW;
Martin, RH

Publication type:

Article

Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 469, doi. 10.1034/j.1399-0004.2000.580607.x

By:

Yu, S;
Fimmel, A;
Fung, D;
Trent, RJ

Publication type:

Article

Ventricular septal defect associated with microdeletions of chromosome 22q11.2.

Published in:

Clinical Genetics, 2000, v. 58, n. 6, p. 493, doi. 10.1034/j.1399-0004.2000.580612.x

By:

Yamagishi, H;
Maeda, J;
Tokumura, M;
Yoshiba, S;
Takahashi, E;
Fukushima, H;
Yamagishi, C;
Matsuo, N;
Kojima, Y

Publication type:

Article