Volume 62; Issue 2

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Clinical Genetics
Volume 62; Issue 2

Clinical Genetics

Volume 62; Issue 2

1

HotSpots

Lewis, ME Suzanne

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 134 KB

english, 2002

2

Living with Marfan syndrome III. Quality of life and reproductive planning

Peters, KF, Kong, F, Hanslo, M, Biesecker, BB

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 84 KB

english, 2002

3

Family issues in a psychoeducation group for women with a BRCA mutation

Speice, J, McDaniel, SH, Rowley, PT, Loader, S

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

4

Interdependent effect of angiotensin-converting enzyme and platelet-activating factor acetylhydrolase gene polymorphisms on the progression of immunoglobulin A nephropathy

Yoon, H-J, Kim, H, Kim, HL, Lee, SG, Zheng, S-H, Shin, JH, Lim, CS, Kim, S, Lee, JS, Lee, DS, Kim, YS

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 62 KB

english, 2002

5

Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

Wehner, M, Rueffert, H, Koenig, F, Neuhaus, J, Olthoff, D

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 180 KB

english, 2002

6

Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins

Ah Mew, N, Hamel, N, Galvez, M, Al-Saffar, M, Foulkes, WD

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 75 KB

english, 2002

7

Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients

Hurmerinta, K, Pirinen, S, Kovero, O, Kivitie-Kallio, S

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 279 KB

english, 2002

8

Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype

Wilmshurst, J M, Reynolds, L, Van Toorn, R, Leisegang, F, Henderson, H E

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 41 KB

english, 2002

9

Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease

Eo, H-S, Lee, JG, Ahn, C, Cho, JT, Hwang, DY, Hwang, YH, Lee, EJ, Kim, YS, Han, JS, Kim, S, Lee, JS, Jeoung, DI, Lee, SE, Kim, UK

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 120 KB

english, 2002

10

α1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G→A transition in position +1 of intron IC affecting normal mRNA splicing

Seixas, S, Mendonça, C, Costa, F, Rocha, J

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 148 KB

english, 2002

11

Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population

Ezquieta, B, Cueva, E, Oyarzábal, M, Oliver, A, Varela, J M, Jariego, C

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

12

How many phenotypes in the DTDST family chondrodysplasias?

Mégarbané, A, Farkh, I, Haddad-Zebouni, S

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 64 KB

english, 2002

13

CALL FOR ABSTRACTS

Mégarbané, A, Farkh, I, Haddad-Zebouni, S

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 13 KB

english, 2002

14

Epigenetic contributors to the discordance of monozygotic twins

Singh, SM, Murphy, B, O'Reilly, R

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

15

Anticipation in hereditary breast cancer

Dagan, E, Gershoni-Baruch, R

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

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