Volume 64; Issue 6

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Clinical Genetics
Volume 64; Issue 6

Clinical Genetics

Volume 64; Issue 6

1

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene

F. Squitieri, E.W. Almqvist, M. Cannella, G. Cislaghi, M.R. Hayden

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 51 KB

english, 2003

2

Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis–ptosis–epicanthus inversus syndrome

SC Cha, YS Jang, JH Lee, HK Kim, SC Kim, S Kim, S-H Baek, WS Jung, J-R Kim

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1012 KB

english, 2003

3

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin–Lowry syndrome

I Martínez-Garay, MJ Ballesta, S Oltra, C Orellana, A Palomeque, MD Moltó, F Prieto, F Martínez

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 371 KB

english, 2003

4

Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed

P. Kannu, S. Aftimos, I. Winship

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

5

Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?

D Gisselsson, U Kristoffersson, A Giwercman

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 881 KB

english, 2003

6

Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France

G Lucotte, A Pinna

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

7

Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features

C Pescucci, I Meloni, M Bruttini, F Ariani, I Longo, F Mari, R Canitano, G Hayek, M Zappella, A Renieri

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 279 KB

english, 2003

8

Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland

H Janiszewska, O Haus, A Lauda-Świeciak, M Pasińska, R Laskowski, W Szymański, B Górski, J Lubiński

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

9

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease

Y-H Gu, H Kodama, S-L Du, Q-J Gu, H-J Sun, H Ushijima

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

10

Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH

JM Milunsky, XL Huang

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 15.23 MB

english, 2003

11

Involvement of gene–diet/drug interaction in DNA methylation and its contribution to complex diseases: from cancer to schizophrenia

SM Singh, B Murphy, R O'Reilly

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

12

Notch signaling in development and disease

JA Harper, JS Yuan, JB Tan, I Visan, CJ Guidos

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 407 KB

english, 2003

13

Erratum

Journal:

Clinical Genetics

Year:

2003

File:

PDF, 27 KB

2003

14

A reversal of fate? Left-right asymmetry, the inversin gene and childhood renal cystic disease

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 553 KB

english, 2003

15

Another gene to screen in polyposis disorders?

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 553 KB

english, 2003

16

Broadening the spectrum of genetic disease mechanisms: making (anti)sense out of α-thalassemia

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 553 KB

english, 2003

17

Index

Journal:

Clinical Genetics

Year:

2003

File:

PDF, 146 KB

2003