Volume 73; Issue 6

Main
Clinical Genetics
Volume 73; Issue 6

Clinical Genetics

Volume 73; Issue 6

1

The epigenetic origins of mental retardation

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 69 KB

english, 2008

2

Loss of dynamic histone regulation underlies mental retardation

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

3

DNA methylation and mental retardation

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 84 KB

english, 2008

4

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

Y Miyoshi, M Akagi, AK Agarwal, N Namba, K Kato-Nishimura, I Mohri, M Yamagata, S Nakajima, S Mushiake, M Shima, RJ Auchus, M Taniike, A Garg, K Ozono

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 643 KB

english, 2008

5

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

L Sztriha, C Panzeri, R Kálmánchey, N Szabó, E Endreffy, S Túri, C Baschirotto, N Bresolin, Z Vekerdy, MT Bassi

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 160 KB

english, 2008

6

Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion

J-S Fang, K-F Lee, C-T Huang, C-L Syu, K-J Yang, L-H Wang, D-L Liao, C-H Chen

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 408 KB

english, 2008

7

Mowat–Wilson syndrome: an underdiagnosed syndrome?

E Engenheiro, RS Møller, M Pinto, G Soares, M Nikanorova, IM Carreira, R Ullmann, N Tommerup, Z Tümer

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 230 KB

english, 2008

8

Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis

R Yanaru-Fujisawa, T Matsumoto, Y Ushijima, M Esaki, M Hirahashi, M Gushima, T Yao, Y Nakabeppu, M Iida

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 340 KB

english, 2008

9

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

JC Defesche, EJM Schuurman, LN Klaaijsen, KL Khoo, A Wiegman, AFH Stalenhoef

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 280 KB

english, 2008

10

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

M Stuhrmann, HC Hennies, IA Bukhari, K Brakensiek, G Nürnberg, C Becker, J Huebener, MC Miranda, H Frye-Boukhriss, S Knothe, J Schmidtke, E-HA El-Harith

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 422 KB

english, 2008

11

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

M Tekin, H Öztürkmen Akay, S Fitoz, S Birnbaum, FB Cengiz, L Sennaroğlu, A İncesulu, EB Yüksel Konuk, A Hasanefendioğlu Bayrak, S Şentürk, İ Cebeci, GE Ütine, E Tunçbilek, WE Nance, D Duman

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 797 KB

english, 2008

12

Genetic factors in congenital heart malformation

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 937 KB

english, 2008

13

The skeletal manifestations of the congenital disorders of glycosylation

D Coman, M Irving, P Kannu, J Jaeken, R Savarirayan

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 131 KB

english, 2008