Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update-Reference-Cited by-同舟云学术

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Published:2015-11-19 Issue:2 Volume:37 Page:148-154
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Huang Lijia¹,Vanstone Megan R.¹,Hartley Taila¹,Osmond Matthew¹,Barrowman Nick¹²,Allanson Judith²³,Baker Laura⁴,Dabir Tabib A.⁵,Dipple Katrina M.⁶,Dobyns William B.⁷⁸,Estrella Jane⁹,Faghfoury Hanna¹⁰,Favaro Francine P.¹¹,Goel Himanshu¹²¹³,Gregersen Pernille A.¹⁴,Gripp Karen W.⁴,Grix Art¹⁵,Guion-Almeida Maria-Leine¹¹,Harr Margaret H.¹⁶¹⁷,Hudson Cindy¹⁸,Hunter Alasdair G.W.¹⁹,Johnson John¹⁸²⁰,Joss Shelagh K.²¹,Kimball Amy²²,Kini Usha²³,Kline Antonie D.²²,Lauzon Julie²⁴,Lildballe Dorte L.¹⁴,López-González Vanesa²⁵²⁶,Martinezmoles Johanna²⁷,Meldrum Cliff²⁸,Mirzaa Ghayda M.⁷⁸,Morel Chantal F.¹⁰,Morton Jenny E.V.²⁹,Pyle Louise C.³⁰,Quintero-Rivera Fabiola³¹,Richer Julie¹³,Scheuerle Angela E.³²,Schönewolf-Greulich Bitten³³,Shears Deborah J.³⁴,Silver Josh¹⁰,Smith Amanda C.³,Temple I. Karen³⁵³⁶,van de Kamp Jiddeke M.³⁷,van Dijk Fleur S.³⁷,Vandersteen Anthony M.³⁸,White Sue M.³⁹⁴⁰,Zackai Elaine H.¹⁶³⁰,Zou Ruobing¹,Consortium CareRare Canada¹,Bulman Dennis E.¹⁴¹,Boycott Kym M.¹³,Lines Matthew A.¹²⁴²,

Affiliation:

1. The Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Ontario Canada

2. Department of Pediatrics; University of Ottawa; Ottawa Ontario Canada

3. Department of Genetics; The Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

4. Division of Medical Genetics; A. I. duPont Hospital for Children; Wilmington Delaware

5. Clinical Genetics Department; Belfast City Hospital; Belfast UK

6. Department of Pediatrics and Human Genetics; David Geffen School of Medicine; University of California; Los Angeles California

7. Division of Genetic Medicine; Department of Pediatrics; University of Washington; Seattle Washington

8. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle Washington

9. Department of Medical Genetics; Westmead Hospital Sydney Australia

10. The Fred A. Litwin Family Centre in Genetic Medicine; University Health Network and Mount Sinai Hospital; University of Toronto; Toronto Ontario Canada

11. Department of Clinical Genetics; Hospital for Rehabilitation of Craniofacial Anomalies; University of São Paulo; Bauru Brazil

12. Hunter Genetics; Newcastle Waratah Australia

13. University of Newcastle; Newcastle - School of Medicine and Public Health; Faculty of Health; Callaghan Australia

14. Department of Clinical Genetics; Aarhus University Hospital; Aarhus Denmark

15. Department of Genetics; Permanente Medical Group; Roseville California

16. Division of Human Genetics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

17. The Perelman School of Medicine of the University of Pennsylvania; Philadelphia Pennsylvania

18. Shodair Children's Hospital; Helena Montana

19. Medical Geneticist; Ottawa Ontario Canada

20. Clinical Genetics and Metabolism; Floating Hospital for Children; Tufts Medical Center; Boston Massachusetts

21. West of Scotland Clinical Genetics Service; South Glasgow University Hospital; Glasgow UK

22. Harvey Institute for Human Genetics; Greater Baltimore Medical Center; Baltimore Maryland

23. Department of Clinical Genetics; Oxford University Hospitals NHS Trust; Oxford UK

24. Department of Medical Genetics; Alberta Children's Hospital Research Institute; University of Calgary; Calgary Alberta Canada

25. Sección de Genética Médica; Servicio de Pediatría; Hospital Clínico Universitario Virgen de la Arrixaca; IMIB-Arrixaca Murcia Spain

26. Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Instituto de Salud Carlos III (ISCIII); Madrid Spain

27. Department of Genetics; Sacramento Medical Center; Sacramento California

28. NSW Health Pathology; Newcastle Australia

29. West Midlands Regional Genetics Service; Birmingham Women's Hospital; Birmingham UK

30. Department of Pediatrics; University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

31. Department of Pathology and Laboratory Medicine; UCLA Clinical Genomics Center; David Geffen School of Medicine; University of California; Los Angeles California

32. Department of Pediatrics; University of Texas Southwestern Medical Center; Dallas Texas

33. Genetic Counselling Clinic Kennedy Center; Copenhagen University Hospital; Rigshospitalet Glostrup Denmark

34. Oxford Regional Genetics Service; The Churchill Hospital; Oxford University Hospitals NHS Trust; Oxford UK

35. Human Development and Health; Faculty of Medicine; University of Southampton; Southampton UK

36. Wessex Clinical Genetics Service; Princess Anne Hospital; University Hospital Southampton NHS Foundation Trust; Southampton UK

37. Department of Clinical Genetics; VU Medical Center; Amsterdam The Netherlands

38. Maritime Medical Genetics Service; IWKHealth Centre; Halifax Nova Scotia Canada

39. Victoria Clinical Genetics Service; Murdoch Children's Research Institute; Melbourne Australia

40. Department of Paediatrics; University of Melbourne; Melbourne Australia

41. Newborn Screening Ontario; The Children's Hospital of Eastern Ontario; Ottawa Canada

42. Metabolics and Newborn Screening; Department of Pediatrics; The Children's Hospital of Eastern Ontario; Ottawa Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

2. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome;Dauwerse;Nat Genet,2011

3. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities;Dixon;Proc Natl Acad Sci USA,2006

4. An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2;Fabrizio;EMBO J,1997

5. LOVD v.2.0: the next generation in gene variant databases;Fokkema;Hum Mutat,2011

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