NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain-Reference-Cited by-同舟云学术

NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Published:2013-04-12 Issue:6 Volume:34 Page:801-811
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sen Partha¹,Yang Yaping²,Navarro Colby¹,Silva Iris¹,Szafranski Przemyslaw²,Kolodziejska Katarzyna E.²,Dharmadhikari Avinash V.²,Mostafa Hasnaa¹,Kozakewich Harry³,Kearney Debra⁴,Cahill John B.⁵,Whitt Merrissa⁵,Bilic Masha⁶,Margraf Linda⁷,Charles Adrian⁸,Goldblatt Jack⁹,Gibson Kathleen¹⁰,Lantz Patrick E.¹⁰,Garvin A. Julian¹⁰,Petty John¹¹,Kiblawi Zeina¹²,Zuppan Craig¹³,McConkie-Rosell Allyn¹⁴,McDonald Marie T.¹⁴,Peterson-Carmichael Stacey L.¹⁴,Gaede Jane T.¹⁵,Shivanna Binoy¹,Schady Deborah⁴,Friedlich Philippe S.¹⁶,Hays Stephen R.¹⁷,Palafoll Irene Valenzuela¹⁸,Siebers-Renelt Ulrike¹⁹,Bohring Axel¹⁹,Finn Laura S.²⁰,Siebert Joseph R.²⁰,Galambos Csaba²¹,Nguyen Lananh²¹,Riley Melissa²²,Chassaing Nicolas²³,Vigouroux Adeline²³,Rocha Gustavo²⁴,Fernandes Susana²⁵,Brumbaugh Jane²⁶,Roberts Kari²⁶,Ho-ming Luk²⁷,Lo Ivan F. M.²⁷,Lam Stephen²⁷,Gerychova Romana²⁸,Jezova Marta²⁹,Valaskova Iveta³⁰,Fellmann Florence³¹,Afshar Katayoun³¹,Giannoni Eric³²,Muhlethaler Vincent³²,Liang Jinlong³³,Beckmann Jacques S.,Lioy Janet³⁴,Deshmukh Hitesh³⁴,Srinivasan Lakshmi³⁴,Swarr Daniel T.³⁴,Sloman Melissa³⁵,Shaw-Smith Charles³⁶,van Loon Rosa Laura³⁷,Hagman Cecilia³⁸,Sznajer Yves³⁹,Barrea Catherine⁴⁰,Galant Christine⁴¹,Detaille Thierry⁴²,Wambach Jennifer A.⁴³,Cole F. Sessions⁴³,Hamvas Aaron⁴³,Prince Lawrence S.⁴⁴,Diderich Karin E.M.³⁷,Brooks Alice S.³⁷,Verdijk Robert M.⁴⁵,Ravindranathan Hari⁴⁶,Sugo Ella,Mowat David,Baker Michael L.⁴,Langston Claire⁴,Welty Stephen¹,Stankiewicz Pawel²

Affiliation:

1. Department of Pediatrics; Baylor College of Medicine; Houston; Texas

2. Department of Molecular & Human Genetics; Baylor College of Medicine; Houston; Texas

3. Department of Pathology; Children's Hospital Boston; Boston; Massachusetts

4. Department of Pathology & Immunology; Baylor College of Medicine; Houston; Texas

5. Department of Pediatrics; Medical University of South Carolina; Charleston; South Carolina

6. Department of Pathology and Lab Medicine; Medical University of South Carolina; Charleston; South Carolina

7. Department of Pathology; University of Texas Southwestern Medical School; Dallas; Texas

8. Department of Paediatric Pathology; University of Western Australia, Princess Margaret Hospital for Children; Western Australia; Australia

9. Genetic Services of WA; School of Paediatrics and Child Health, University of Western Australia; Western Australia; Australia

10. Department of Pathology; Wake Forest University, Baptist Medical Center; Winston-Salem; North Carolina

11. Department of General Surgery; Wake Forest University, Baptist Medical Center; Winston-Salem; North Carolina

12. Division of Neonatology; Harbor-UCLA Medical Center; Torrance; California

13. Pediatric Pathology Division; Loma Linda University Medical Center; Loma Linda; California

14. Department of Pediatrics; Duke University Medical Center; Durham; North Carolina

15. Department of Pathology; Duke University Medical Center; Durham; North Carolina

16. USC Division of Neonatal Medicine; Keck School of Medicine; Los Angeles; California

17. Anesthesiology and Pediatrics; Vanderbilt University School of Medicine; Nashville; Tennessee

18. Unitat de Genètica Clínica; Hospital Vall d'Hebrón; Barcelona; Spain

19. Institut für Humangenetik; Westfälische Wilhelms-Universität; Münster; Germany

20. Department of Laboratories; Seattle Children's Hospital and Department of Pathology, University of Washington; Seattle; Washington

21. Department of Pathology; University of Pittsburgh; Pittsburgh; Pennsylvania

22. Department of Pediatrics; University of Pittsburgh; Pittsburgh; Pennsylvania

23. Department of Medical Genetics; CHU Toulouse; Purpan Hospital; Toulouse; France

24. Department of Pediatrics; Hospital de Sao Joao; Porto; Portugal

25. Department of Genetics; Faculty of Medicine; Porto University; Porto; Portugal

26. Department of Pediatrics; University of Minnesota; Minneapolis; Minnesota

27. Clinical Genetic Service; Department of Health; Hong Kong SAR; China

28. Department of Obstetrics and Gynecology; Masaryk University; Brno; Czech Republic

29. Department of Pathology; Masaryk University; Brno; Czech Republic

30. Department of Medical Genetics; Masaryk University; Brno; Czech Republic

31. Service of Medical Genetics; Division of Neonatology, Centre Hospitalier Universitaire Vaudois; Lausanne; Switzerland

32. Neonatology Service; Lausanne University Hospital; Lausanne; Switzerland

33. BGI-Shenzhen; Shenzhen; China

34. Division of Neonatology; Children's Hospital of Philadelphia; Philadelphia; Pennsylvania

35. Department of Molecular Genetics; Royal Devon and Exeter Hospital; Exeter; UK

36. Department of Clinical Genetics; Royal Devon and Exeter Hospital; Exeter; UK

37. Department of Clinical Genetics; Erasmus Medical Center; Rotterdam; The Netherlands

38. Department of Neonatology; Skane University Hospital; Lund; Sweden

39. Center for Human Genetics; Cliniques Universitaires St-Luc, Université Catholique de Louvain; Brussels; Belgium

40. Pediatrics Department; Cliniques Universitaires St-Luc, Université Catholique de Louvain; Brussels; Belgium

41. Pathology Department; Cliniques Universitaires St-Luc, Université Catholique de Louvain; Brussels; Belgium

42. Pediatric Intensive Care Unit; Cliniques Universitaires St-Luc, Université Catholique de Louvain; Brussels; Belgium

43. Edward Mallinckrodt Department of Pediatrics; Washington University School of Medicine; St. Louis; Missouri

44. Division of Neonatology; Vanderbilt University School of Medicine; Nashville; Tennessee

45. Department of Pathology; Erasmus Medical Center; Rotterdam; The Netherlands

46. Children's Intensive Care; Sydney Children's Hospital; Sydney; NSW; Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22313/fullpdf

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3. Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature;Al-Hathlol;Early Hum Dev,2000

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5. NMD: RNA biology meets human genetic medicine;Bhuvanagiri;Biochem J,2010

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