Volume 68; Issue 1

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Clinical Genetics
Volume 68; Issue 1

Clinical Genetics

Volume 68; Issue 1

1

Mutation analysis of Wilson disease in the Spanish population – identification of a prevalent substitution and eight novel mutations in the ATP7B gene

E Margarit, V Bach, D Gómez, M Bruguera, P Jara, R Queralt, F Ballesta

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 838 KB

english, 2005

2

Inhibin A is a maternal serum marker for Down's syndrome early in the first trimester

M Christiansen, B Nørgaard-Pedersen

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 121 KB

english, 2005

3

De novoα-actin mutations in monozygotic twins

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

4

Living with Marfan syndrome: coping with stigma

KF Peters, KA Apse, A Blackford, B McHugh, D Michalic, BB Biesecker

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 125 KB

english, 2005

5

LMNA mutation position predicts organ system involvement in laminopathies

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 329 KB

english, 2005

6

Is reduced CAG repeat length in androgen receptor gene associated with risk of prostate cancer in Indian population?

DK Mishra, K Thangaraj, A Mandhani, A Kumar, RD Mittal

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 103 KB

english, 2005

7

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

A Ługowska, J Berger, A Tylki-Szymańska, B Löschl, B Molzer, M Zobel, B Czartoryska

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 119 KB

english, 2005

8

Chromosomal changes in prostate cancer: A fluorescence in situ hybridization study

K Das, W Lau, CR Sivaswaren, Tan PH, SMC Fook-Chong, Tien SL, C Cheng

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 2.22 MB

english, 2005

9

Simultaneous identification of chromosomes 18, X and Y in uncultured amniocytes by using multi-primed in situ labelling technique

M Gadji, K Krabchi, R Drouin

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 427 KB

english, 2005

10

DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy

SA Hamed, AJ Sutherland-Smith, JRM Gorospe, J Kendrick-Jones, EP Hoffman

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.24 MB

english, 2005

11

Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 75 KB

english, 2005

12

Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer

C Sarroca, A Della Valle, R Fresco, E Renkonen, P Peltömaki, HT Lynch

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

13

A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 74 KB

english, 2005

14

Detection of hemizygosity in Hermansky – Pudlak syndrome by quantitative real-time PCR

AE Griffin, BR Cobb, PD Anderson, DA Claassen, A Helip-Wooley, M Huizing, WA Gahl

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.34 MB

english, 2005

15

Expressing the nature of quantitative traits

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 900 KB

english, 2005

16

Expressing the nature of quantitative traits

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 900 KB

english, 2005

17

Expressing the nature of quantitative traits

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 900 KB

english, 2005

18

Expressing the nature of quantitative traits

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 900 KB

english, 2005