Further delineation of Malan syndrome-Reference-Cited by-同舟云学术

Further delineation of Malan syndrome

Published:2018-06-25 Issue:9 Volume:39 Page:1226-1237
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Priolo Manuela¹,Schanze Denny²,Tatton-Brown Katrin³,Mulder Paul A.⁴,Tenorio Jair⁵,Kooblall Kreepa⁶,Acero Inés Hernández⁷,Alkuraya Fowzan S.⁸,Arias Pedro⁵,Bernardini Laura⁹,Bijlsma Emilia K.¹⁰,Cole Trevor¹¹,Coubes Christine¹²,Dapia Irene⁵,Davies Sally¹³,Di Donato Nataliya¹⁴,Elcioglu Nursel H.¹⁵,Fahrner Jill A.¹⁶,Foster Alison¹⁷,González Noelia García¹⁸,Huber Ilka¹⁹,Iascone Maria²⁰,Kaiser Ann-Sophie²¹,Kamath Arveen¹³,Liebelt Jan²²,Lynch Sally Ann²³,Maas Saskia M.²⁴,Mammì Corrado¹,Mathijssen Inge B.²⁴,McKee Shane²⁵,Menke Leonie A.²⁶,Mirzaa Ghayda M.²⁷,Montgomery Tara²⁸,Neubauer Dorothee²,Neumann Thomas E.²⁹,Pintomalli Letizia¹,Pisanti Maria Antonietta³⁰,Plomp Astrid S.²⁴,Price Sue³¹,Salter Claire³²,Santos-Simarro Fernando⁵,Sarda Pierre¹²,Segovia Mabel³³,Shaw-Smith Charles³⁴,Smithson Sarah³⁵,Suri Mohnish³⁶,Valdez Rita Maria³⁷,Van Haeringen Arie¹⁰,Van Hagen Johanna M.³⁸,Zollino Marcela³⁹,Lapunzina Pablo⁵,Thakker Rajesh V.⁶,Zenker Martin²,Hennekam Raoul C.²⁶^ORCID

Affiliation:

1. Unità Operativa di Genetica Medica; Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli; Reggio Calabria Italy

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

3. Division of Genetics and Epidemiology; Institute of Cancer Research; London and South West Thames Regional Genetics Service; St. George's University Hospitals NHS Foundation Trust; London UK

4. Autism Team Northern-Netherlands; Jonx Department of Youth Mental Health; Lentis Psychiatric Institute; Groningen The Netherlands

5. Institute of Medical and Molecular Genetics (INGEMM); Hospital Universitario La Paz; IdiPAZ; Universidad Autónoma de Madrid; and CIBERER; Centro de Investigación Biomédica en Red de Enfermedades Raras; ISCIII Madrid Spain

6. Academic Endocrine Unit; Radcliffe Department of Medicine; University of Oxford; Oxford UK

7. Genetics Unit, Hospital Universitario Central de Asturias; Oviedo Spain

8. Saudi Human Genome Project; King Abdulaziz City for Science and Technology; and Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

9. Cytogenetics Unit; Casa Sollievo della Sofferenza Foundation; San Giovanni Rotondo Italy

10. Department of Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands

11. Department of Clinical Genetics; Birmingham Women's and Children's NHS Foundation Trust; Birmingham UK

12. Département de Génétique Médicale; Hôpital Arnaud de Villeneuve; CHRU Montpellier; Montpellier France

13. Institute of Medical Genetics; University Hospital of Wales; Cardiff UK

14. Institute for Clinical Genetics; TU Dresden Dresden Germany

15. Department of Pediatric Genetics; Marmara University Medical School, Istanbul, and Eastern Mediterranean University; Mersin Turkey

16. McKusick-Nathans Institute of Genetic Medicine; Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore Maryland

17. Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences; University of Birmingham; Birmingham UK

18. Unit Hospital Universitario Central de Asturias; Oviedo Spain

19. Sørland Hospital; Kristiansand Norway

20. Laboratorio di Genetica Medica; ASST Papa Giovanni XXIII; Bergamo Italy

21. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

22. South Australian Clinical Genetics Services; SA Pathology; North Adelaide Australia

23. UCD Academic Centre on Rare Diseases; School of Medicine and Medical Sciences; University College Dublin; and Clinical Genetics; Temple Street Children's University Hospital; Dublin Ireland

24. Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands

25. Belfast HSC Trust; Northern Ireland Regional Genetics Service; Belfast Northern Ireland

26. Department of Pediatrics; Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

27. Center for Integrative Brain Research; Seattle Children's Research Institute; and Department of Human Genetics, University of Washington; Seattle Washington

28. Newcastle upon Tyne NHS Foundation Trust; Newcastle upon Tyne UK

29. Mitteldeutscher Praxisverbund Humangenetik; Halle Germany

30. Medical Genetic and Laboratory Unit; “Antonio Cardarelli” Hospital; Naples Italy

31. Department of Clinical Genetics; Northampton General Hospital NHS Trust; Northampton UK

32. Wessex Clinical Genetics Service; Princess Ann Hospital; Southampton UK

33. CENAGEM; Centro Nacional de Genética; Buenos Aires Argentina

34. Royal Devon and Exeter NHS Foundation Trust; Exeter UK

35. University Hospitals Bristol NHS Trust; Bristol UK

36. Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; Nottingham UK

37. Genetics Unit, Hospital Militar Central “Cirujano Mayor Dr. Cosme Argerich,”; Buenos Aires Argentina

38. Department of Clinical Genetics; VU University Medical Centre; Amsterdam The Netherlands

39. Department of Laboratory Medicine; Institute of Medical Genetics; Catholic University; Rome Italy

Funder

Feder Funds FIS

National Institute of Neurological Disorders and Stroke

Jordan's Guardian Angles

Marshall-Smith Research Foundation

National Institute of Health Research (NIHR) Oxford Biomedical Research Centre Program

NIHR Senior Investigator Award

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23563/fullpdf

Reference36 articles.

1. Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation;Aggarwal;European Journal of Medical Genetics,2017

2. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms;Auvin;Epilepsia,2009

3. Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions;Bonaglia;European Journal of Human Genetics,2010

4. A novel microdeletion/microduplication syndrome of 19p13.13;Dolan;Genetics in Medicine,2010

5. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome;Dong;Molecular Cytogenetics,2016

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