Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort-Reference-Cited by-同舟云学术

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Published:2018-07-04 Issue:9 Volume:39 Page:1246-1261
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Meester Josephina A.N.¹^ORCID,Sukalo Maja²,Schröder Kim C.²,Schanze Denny²,Baynam Gareth³⁴⁵,Borck Guntram⁶,Bramswig Nuria C.⁷,Duman Duygu⁸,Gilbert-Dussardier Brigitte⁹,Holder-Espinasse Muriel¹⁰,Itin Peter¹¹,Johnson Diana S.¹²,Joss Shelagh¹³,Koillinen Hannele¹⁴,McKenzie Fiona¹⁵,Morton Jenny¹⁶,Nelle Heike¹⁷,Reardon Willie¹⁸,Roll Claudia¹⁹,Salih Mustafa A.²⁰,Savarirayan Ravi²¹,Scurr Ingrid²²,Splitt Miranda²³,Thompson Elizabeth²⁴²⁵,Titheradge Hannah¹⁶,Travers Colm P.²⁶,Van Maldergem Lionel²⁷,Whiteford Margo²⁸,Wieczorek Dagmar²⁹,Vandeweyer Geert¹,Trembath Richard³⁰,Van Laer Lut¹,Loeys Bart L.¹,Zenker Martin²,Southgate Laura³⁰³¹^ORCID,Wuyts Wim¹

Affiliation:

1. Center of Medical Genetics; University of Antwerp and Antwerp University Hospital; Antwerp Belgium

2. Institute of Human Genetics; University Hospital Magdeburg; Magdeburg Germany

3. Genetic Services of Western Australia and the Western Australian Register of Developmental Anomalies; King Edward Memorial Hospital; Perth Australia

4. Telethon Kids Institute; Perth Australia

5. School of Paediatrics and Child Health; University of Western Australia; Perth Australia

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

7. Institut für Humangenetik; Universitätsklinikum Essen, Universität Duisburg-Essen; Essen Germany

8. Division of Pediatric Genetics; Ankara University School of Medicine; Ankara Turkey

9. Service de Génétique, CHU de Poitiers; University of Poitiers; Poitiers France

10. Guy's Regional Genetics Service; Guy's and St Thomas' NHS Foundation Trust; London United Kingdom

11. Department of Dermatology; Basel University Hospital; Basel Switzerland

12. Department of Clinical Genetics; Sheffield Children's NHS Foundation Trust; Sheffield United Kingdom

13. West of Scotland Clinical Genetics Service; Queen Elizabeth University Hospital; Glasgow United Kingdom

14. Department of Clinical Genetics; Helsinki University Hospital; Helsinki Finland

15. Genetic Services of Western Australia; King Edward Memorial Hospital for Women; Subiaco Australia

16. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; Birmingham Women's Hospital NHS Foundation Trust; Birmingham United Kingdom

17. MVZ für Pränatalmedizin und Genetik; Nürnberg Germany

18. Clinical Genetics; National Maternity Hospital; Dublin Ireland

19. Abteilung Neonatologie und Pädiatrische Intensivmedizin, Vestische Kinder- und Jugendklinik Datteln; Universität Witten/Herdecke; Datteln Germany

20. Division of Pediatric Neurology, Department of Pediatrics; King Khalid University Hospital and College of Medicine, King Saud University; Riyadh Saudi Arabia

21. Victorian Clinical Genetics Services, Murdoch Children's Research Institute; and the University of Melbourne; Melbourne Australia

22. Bristol Genetics Service, University Hospitals Bristol NHS Foundation Trust; St Michael's Hospital; Bristol United Kingdom

23. Northern Genetics Service; Newcastle upon Tyne Hospitals NHS Foundation Trust; Newcastle upon Tyne United Kingdom

24. South Australian Clinical Genetics Service, North Adelaide, South Australia, Australia; SA Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital; North Adelaide SA Australia

25. School of Medicine; University of Adelaide; North Terrace Adelaide SA Australia

26. Division of Neonatology; University of Alabama at Birmingham; Birmingham USA

27. Centre de Génétique Humaine; Université de Franche-Comté; Besançon France

28. West of Scotland Genetic Services; Queen Elizabeth University Hospital; Glasgow United Kingdom

29. Institute of Human Genetics, Medical Faculty; Heinrich Heine University; Düsseldorf Germany

30. Division of Genetics & Molecular Medicine, King's College London; Faculty of Life Sciences & Medicine, Guy's Hospital; London United Kingdom

31. Molecular and Clinical Sciences Research Institute; St George's University of London; London United Kingdom

Funder

King Saud University

Wellcome Trust

Hartstichting

Universiteit Antwerpen

National Institute for Health Research

Fonds Wetenschappelijk Onderzoek

Fritz Thyssen Stiftung

Fondation Leducq

European Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23567/fullpdf

Reference39 articles.

1. Hereditary deformities in man due to arrested development;Adams;Journal of Heredity,1945

2. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

3. Essential roles for ankyrin repeat and transactivation domains in induction of T-cell leukemia by notch1;Aster;Molecular and Cellular Biology,2000

4. Autosomal dominant inheritance of scalp defects with ectrodactyly;Bonafede;American Journal of Medical Genetics,1979

5. Notch signalling: A simple pathway becomes complex;Bray;Nature Reviews Molecular Cell Biology,2006

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Adams-Oliver syndrome associated with refractory glaucoma;Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-08

2. Human Diseases Associated with Notch Signalling: Lessons from Drosophila melanogaster;Frontiers in Bioscience-Landmark;2024-06-25

3. A Child with a Congenital Aplasia of the Scalp: A Quiz;Acta Dermato-Venereologica;2024-06-17

4. Characterization of a New Variant in ARHGAP31 Probably Involved in Adams–Oliver Syndrome in a Family with a Variable Phenotypic Spectrum;Genes;2024-04-24

5. Adams–Oliver syndrome: About a case;Clinical Case Reports;2024-03-26