Volume 79; Issue 3

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Clinical Genetics
Volume 79; Issue 3

Clinical Genetics

Volume 79; Issue 3

1

Functional analysis of splicing mutations in MYO7A and USH2A genes

T Jaijo, E Aller, MJ Aparisi, G García-García, I Hernan, MJ Gamundi, C Nájera, M Carballo, JM Millán

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 645 KB

english, 2011

2

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

S Basit, A Wali, A Aziz, N Muhammad, M Jelani, W Ahmad

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 683 KB

english, 2011

3

RUNX2 analysis of Danish cleidocranial dysplasia families

L Hansen, AK Riis, A Silahtaroglu, H Hove, E Lauridsen, H Eiberg, S Kreiborg

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 682 KB

english, 2011

4

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

JM van de Kamp, GMS Mancini, PJW Pouwels, OT Betsalel, SJM van Dooren, I de Koning, ME Steenweg, C Jakobs, MS van der Knaap, GS Salomons

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 644 KB

english, 2011

5

Twenty-five novel mutations including duplications in the ATP7A gene

M-P Moizard, N Ronce, S Blesson, E Bieth, L Burglen, C Mignot, I Mortemousque, N Marmin, B Dessay, C Danesino, F Feillet, P Castelnau, A Toutain, C Moraine, M Raynaud

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 644 KB

english, 2011

6

Response to Satgé and Vekemans

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 463 KB

english, 2011

7

Down syndrome patients are less likely to develop some (but not all) malignant solid tumours

Daniel Satgé, Michel Vekemans

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 470 KB

english, 2011

8

PRRX1 is mutated in a fetus with agnathia-otocephaly

C Sergi, D Kamnasaran

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 653 KB

english, 2011

9

Evolutionary evidence of the effect of rare variants on disease etiology

IP Gorlov, OY Gorlova, ML Frazier, MR Spitz, CI Amos

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 741 KB

english, 2011

10

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

BWM van Bon, A Hoischen, J Hehir-Kwa, APM de Brouwer, C Ruivenkamp, ACJ Gijsbers, CL Marcelis, N de Leeuw, JA Veltman, HG Brunner, BBA de Vries

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 698 KB

english, 2011

11

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

D Germanaud, M Rossi, G Bussy, D Gérard, L Hertz-Pannier, P Blanchet, H Dollfus, F Giuliano, V Bennouna-Greene, P Sarda, S Sigaudy, A Curie, MC Vincent, R Touraine, V des Portes

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 1.84 MB

english, 2011

12

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

ATJM Helderman-van den Enden, JC van den Bergen, MH Breuning, JJGM Verschuuren, A Tibben, E Bakker, HB Ginjaar

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 544 KB

english, 2011

13

Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results

J Vos, JC Oosterwijk, E Gómez-García, FH Menko, AM Jansen, RD Stoel, CJ van Asperen, A Tibben, AM Stiggelbout

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 607 KB

english, 2011

14

Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 542 KB

english, 2011

15

Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegeneration

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

16

Mutations in a novel cilia–centrosome protein cause a cystic kidney disease associated with retinal degeneration

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011