Volume 61; Issue 3

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Clinical Genetics
Volume 61; Issue 3

Clinical Genetics

Volume 61; Issue 3

1

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 178 KB

english, 2002

2

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

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 127 KB

english, 2002

3

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

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

4

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

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

5

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 144 KB

english, 2002

6

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

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 132 KB

english, 2002

7

Complete screening of the CFTR gene in Argentine cystic fibrosis patients

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

8

Familial adenomatous polyposis in two Black South African families

JJ Grobbelaar, E Wilken, TJL De Ravel, DL Nicholson, MJ Kotze

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 116 KB

english, 2002

9

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

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

10

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

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

11

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

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 137 KB

english, 2002

12

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

FYM Choy, A Vaags, K Wong, D Macgregor, B Fernandez, C Prasad

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 105 KB

english, 2002