Volume 58; Issue 6

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Clinical Genetics
Volume 58; Issue 6

Clinical Genetics

Volume 58; Issue 6

1

Ectodermal dysplasias: not only ‘skin’ deep

M Priolo, M Silengo, M Lerone, R Ravazzolo

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 177 KB

english, 2000

2

Factors influencing sib risks for Multiple Sclerosis

AD Sadovnick, IML Yee, GC Ebers, The Canadian Collaborative Study Group

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

3

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 88 KB

english, 2000

4

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 123 KB

english, 2000

5

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

Ö Aras, NQ Hanson, F Yang, MY Tsai

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 80 KB

english, 2000

6

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

V Collins, J Halliday, R Warren, R Williamson

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 132 KB

english, 2000

7

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

S Yu, A Fimmel, D Fung, RJ Trent

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 109 KB

english, 2000

8

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 177 KB

english, 2000

9

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

J Peverall, E Edkins, J Goldblatt, A Murch

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 81 KB

english, 2000

10

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 156 KB

english, 2000

11

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 88 KB

english, 2000

12

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

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

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 84 KB

english, 2000