Volume 76; Issue 3

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Clinical Genetics
Volume 76; Issue 3

Clinical Genetics

Volume 76; Issue 3

1

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation

R Slim, R Bagga, W Chebaro, R Srinivasan, N Agarwal

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 472 KB

english, 2009

2

Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis

JE Yu, S-Y Jeong, J-A Yang, MS Park, HJ Kim, SH Yoon

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 527 KB

english, 2009

3

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

C Surace, S Piazzolla, P Sirleto, MC Digilio, MC Roberti, A Lombardo, G D'Elia, AC Tomaiuolo, S Petrocchi, R Capolino, M El Hachem, D Claps Sepulveda, A Sgura, A Angioni

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 724 KB

english, 2009

4

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation

J Hoyer, C Kraus, G Hammersen, J-P Geppert, A Rauch

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 712 KB

english, 2009

5

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

AM Waryah, A Rehman, ZM Ahmed, Z-H Bashir, SY Khan, AU Zafar, S Riazuddin, TB Friedman, S Riazuddin

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 633 KB

english, 2009

6

Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis

CD Fetterman, F Mirzayans, MA Walter

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 569 KB

english, 2009

7

Polyalamine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly

M Wajid, Y Ishii, M Kurban, MB Dua-Awereh, Y Shimomura, AM Christiano

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 724 KB

english, 2009

8

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

V Klaus, T Vermeulen, B Minassian, N Israelian, K Engel, AM Lund, K Roebrock, E Christensen, J Häberle

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 675 KB

english, 2009

9

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas

B Filipe, C Baltazar, C Albuquerque, S Fragoso, P Lage, I Vitoriano, S Mão de Ferro, I Claro, P Rodrigues, P Fidalgo, P Chaves, M Cravo, C Nobre Leitão

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 508 KB

english, 2009

10

Genetic gains on the obesity and metabolic disease fronts

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 495 KB

english, 2009

11

CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis

H-S Chiang, J-F Lu, C-H Liu, Y-N Wu, C-C Wu

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 465 KB

english, 2009

12

Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing

M Via, E Ziv, EG Burchard

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 752 KB

english, 2009

13

Kåre Berg (1932–2009)

Lars Retterstøl, Anne-Lise Børresen-Dale

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 541 KB

english, 2009