Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome-Reference-Cited by-同舟云学术

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Published:2013-04-11 Issue:5 Volume:34 Page:686-696
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Handley Mark T.¹,Morris-Rosendahl Deborah J.,Brown Stephen¹,Macdonald Fiona²,Hardy Carol²,Bem Danai³,Carpanini Sarah M.¹,Borck Guntram⁴,Martorell Loreto⁵,Izzi Claudia⁶,Faravelli Francesca⁷,Accorsi Patrizia⁸,Pinelli Lorenzo⁹,Basel-Vanagaite Lina,Peretz Gabriela¹⁰,Abdel-Salam Ghada M.H.¹¹,Zaki Maha S.¹¹,Jansen Anna¹²,Mowat David¹³,Glass Ian¹⁴,Stewart Helen¹⁵,Mancini Grazia¹⁶,Lederer Damien¹⁷,Roscioli Tony,Giuliano Fabienne¹⁸,Plomp Astrid S.¹⁹,Rolfs Arndt,Graham John M.²⁰,Seemanova Eva²¹,Poo Pilar²²,García-Cazorla Àngels²²,Edery Patrick²³,Jackson Ian J.¹,Maher Eamonn R.,Aligianis Irene A.¹

Affiliation:

1. MRC Human Genetics Unit; Medical Research Council and Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh; Scotland; UK

2. West Midlands Regional Genetics Laboratory; Birmingham Women's Hospital; Birmingham; UK

3. Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences; University of Birmingham; Edgbaston; Birmingham; UK

4. Institute of Human Genetics; University of Ulm; Ulm; Germany

5. Molecular Genetics Section; Hospital Sant Joan de Deu; Barcelona; Spain

6. Department of Obstetrics and Gynaecology; University of Brescia; Spedali Civili; Brescia; Italy

7. Division of Medical Genetics; Galliera Hospital; Genova; Italy

8. Department of Child Neurology and Psychiatry; Spedali Civili; Brescia; Italy

9. Department of Neuroradiology; Spedali Civili; Brescia; Italy

10. Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute; Rabin Medical Center; Beilinson Campus; Petah Tiqva; Israel

11. Department of Clinical Genetics; Human Genetics and Genome Research Division; National Research Centre; Cairo; Egypt

12. Pediatric Neurology Unit; Department of Pediatrics; UZ; Brussel

13. Department of Medical Genetics; Sydney Children's Hospital; Sydney; Australia

14. Division of Genetics and Developmental Medicine; Department of Pediatrics; University of Washington; Seattle; USA

15. Clinical Genetics; Churchill Hospital; Oxford; UK

16. Department of Genetics; Erasmus University Medical Center; Rotterdam; The Netherlands

17. Institut de Pathologie et de Génétique; Gosselies; Belgium

18. Centre Hospitalier Universitaire de Nice; Hopital de l'Archet 2; Nice; France

19. Department of Clinical Genetics; Amsterdam Medical Center; Amsterdam; The Netherlands

20. Division of Clinical Genetics and Dysmorphology; Medical Genetics Institute; Cedars-Sinai Medical Centre; Los Angeles; USA

21. Institute of Biology and Medical Genetics; Charles University Prague 2; nd; Medical School; Prague; Czech Republic

22. Neurology Department; Hospital Sant Joan de Déu; Barcelona; Spain

23. Department of Genetics; Hospices Civils de Lyon; Bron; France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference47 articles.

1. Phenotypic variability in Micro syndrome: report of new cases;Abdel-Salam;Genet Couns,2007

2. Micro syndrome in Muslim Pakistan children;Ainsworth;Ophthalmology,2001

3. An integrated approach to uncover drivers of cancer;Akavia;Cell,2010

4. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome;Aligianis;Nat Genet,2005

5. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome;Aligianis;Am J Hum Genet,2006

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