Works matching IS 00099163 AND DT 2002 AND VI 61 AND IP 3

Results: 12

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 192, doi. 10.1034/j.1399-0004.2002.610304.x

By:

Lee-Chen, GJ;
Lin, SP;
Ko, MH;
Chuang, CK;
Chen, CP;
Lee, HH;
Cheng, SC;
Shen, CH;
Tseng, KL;
Li, CL

Publication type:

Article

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 198, doi. 10.1034/j.1399-0004.2002.610305.x

By:

Baker, E;
Hinton, L;
Callen, DF;
Haan, EA;
Dobbie, A;
Sutherland, GR

Publication type:

Article

Complete screening of the CFTR gene in Argentine cystic fibrosis patients.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 207, doi. 10.1034/j.1399-0004.2002.610307.x

By:

Visich, A;
Zielenski, J;
Castaños, C;
Diez, G;
Grenoville, M;
Segal, E;
Barreiro, C;
Tsui, L-C;
Chertkoff, L

Publication type:

Article

Effects of apolipoprotein A-I genetic variations on plasma apolipoprotein, serum lipoprotein and glucose levels.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 176, doi. 10.1034/j.1399-0004.2002.610302.x

By:

Larson, IA;
Ordovas, JM;
Barnard, JR;
Hoffmann, MM;
Feussner, G;
Lamon-Fava, S;
Schaefer, EJ

Publication type:

Article

Keeping an eye on splicing; A FOX speaks; An aneuploidy surprise.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 169, doi. 10.1034/j.1399-0004.2002.610301.x

By:

Hackam, AS

Publication type:

Article

De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 202, doi. 10.1034/j.1399-0004.2002.610306.x

By:

Velagaleti, GVN;
Jalal, SM;
Kukolich, MK;
Lockhart, LH;
Tonk, VS

Publication type:

Article

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 185, doi. 10.1034/j.1399-0004.2002.610303.x

By:

Lamon-Fava, S;
Schaefer, EJ;
Garuti, R;
Salen, G;
Calandra, S

Publication type:

Article

Familial adenomatous polyposis in two Black South African families.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 214, doi. 10.1034/j.1399-0004.2002.610308.x

By:

Grobbelaar, JJ;
Wilken, E;
de Ravel, TJL;
Nicholson, DL;
Kotze, MJ

Publication type:

Article

Mutation in the FGFR2 gene in a Taiwanese patient with Beare–Stevenson cutis gyrata syndrome.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 218, doi. 10.1034/j.1399-0004.2002.610309.x

By:

Wang, T-J;
Huang, C-B;
Tsai, F-J;
Wu, J-Y;
Lai, R-B;
Hsiao, M

Publication type:

Article

An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 222, doi. 10.1034/j.1399-0004.2002.610310.x

By:

Takahashi, I;
Takahashi, T;
Komatsu, M;
Sato, T;
Takada, G

Publication type:

Article

A 4q21-q22 deletion in a girl with severe growth retardation.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 226, doi. 10.1034/j.1399-0004.2002.610311.x

By:

harada, N.;
Nagai, T.;
Shimokawa, O.;
Niikawa, N.;
Matsumoto, N.

Publication type:

Article

Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease.

Published in:

Clinical Genetics, 2002, v. 61, n. 3, p. 229, doi. 10.1034/j.1399-0004.2002.610312.x

By:

Choy, F.Y.M.;
Vaags, A.;
Wong, K.;
Macgregor, D.;
Fernandez, B.;
Prasad, C.

Publication type:

Article