Volume 64; Issue 3

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Clinical Genetics
Volume 64; Issue 3

Clinical Genetics

Volume 64; Issue 3

1

PMX2B, a new candidate gene for Hirschsprung's disease

HK Benailly, JM Lapierre, B Laudier, J Amiel, T Attié, MC De Blois, M Vekemans, SP Romana

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 524 KB

english, 2003

2

Association of autism severity with a monoamine oxidase A functional polymorphism

IL Cohen, X Liu, C Schutz, BN White, EC Jenkins, WT Brown, JJA Holden

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

3

Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication

S.A. Farrell, A. Sajoo, D. Maybury, M.D. Speevak

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 11.20 MB

english, 2003

4

Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer

S-C Wei, C-Y Yu, J-J Tsai-Wu, Y-N Su, J-C Sheu, C-HH Wu, C-Y Wang, J-M Wong

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1.66 MB

english, 2003

5

Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis

L. Baldazzi, A. Nicolettic, M. Gennari, M. Barbaro, P. Pirazzoli, A. Cicognani, E. Cacciari

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 245 KB

english, 2003

6

Genetic analysis of males from intracytoplasmic sperm injection couples

DG Cruger, I Agerholm, L Byriel, J Fedder, G Bruun-Petersen

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

7

Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1

D. Concolino, A. Mussari, M. Filocamo, P. Strisciuglio

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

8

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

MA Shaw, N Brunetti-Pierri, L Kádasi, V Kovácová, L Van Maldergem, D De Brasi, M Salerno, J Gécz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 733 KB

english, 2003

9

Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

10

No justification of routine screening for 22q11 deletions in patients with overt cleft palate

EM Ruiter, EMHF Bongers, DFCM Smeets, AM Kuijpers-Jagtman, BCJ Hamel

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

11

No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver–Russell syndrome cases

M. Riegel, A. Baumer, A. Schinzel

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 58 KB

english, 2003

12

Cholesterol ester transfer protein, apolipoprotein E and lipoprotein lipase genotypes in patients with coronary artery disease in the Turkish population

T Isbir, H Yilmaz, B Agachan, ZE Karaali

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

13

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

RS Devon, JR Helm, GA Rouleau, Y Leitner, T Lerman-Sagie, D Lev, MR Hayden

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 777 KB

english, 2003

14

ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome

C. Bacchelli, L. C. Wilson, J. A. Cook, R. M. Winter, F. R. Goodman

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 550 KB

english, 2003

15

Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype

T. Bienvenu, M. Viel, C. Leroy, H. Van Esch, I. Fajac, D. Dusser, D. Hubert

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 393 KB

english, 2003

16

Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred

RC Green, AG Green, M Simms, A Pater, JD Robb, JS Green

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 184 KB

english, 2003

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