Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations-Reference-Cited by-同舟云学术

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

Published:2013-12-20 Issue:3 Volume:164 Page:627-633
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Vanderver Adeline¹,Tonduti Davide²,Kahn Ilana³,Schmidt Johanna¹,Medne Livija⁴,Vento Jodie⁵,Chapman Kimberly A.⁶,Lanpher Brendan⁶,Pearl Phillip¹,Gropman Andrea¹,Lourenco Charles⁷,Bamforth John-Steven⁸,Sharpe Cynthia⁹,Pineda Mercédes¹⁰,Schallner Jens¹¹,Bodamer Olaf¹²,Orcesi Simona¹³,Oberstein Saskia A. J. Lesnik¹⁴,Sistermans Erik A.¹⁵,Yntema Helger G.¹⁶,Bonnemann Carsten¹⁷,Waldman Amy T.⁴,van der Knaap Marjo S.¹⁸

Affiliation:

1. Department of Neurology; Children's National Medical Center; Washington District of Columbia

2. Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences; University of Pavia; Pavia Italy

3. Department of Pediatrics; Children's National Medical Center; Washington District of Columbia

4. Division of Neurology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

5. Division of Child Neurology; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

6. Department of Genetics; Children's National Medical Center; Washington District of Columbia

7. Neurogenetics Unit, Clinics Hospital of Ribeirao Preto; University of Sao Paulo; Sao Paulo Brazil

8. Medical Genetics Clinic; University of Alberta Hospital; Edmonton Alberta Canada

9. Paediatric Neurology; Starship Children's Hospital; Auckland New Zealand

10. Fundació; Hospital Sant Joan de Deu; Barcelona Spain

11. Klinik und Poliklinik für Kinder- und Jugendmedizin; Uniklinikum Dresden; Dresden Germany

12. Department of Human Genetics; University of Miami Miller School of Medicine; Miami

13. Child Neurology and Psychiatry Unit; C. Mondino National Neurological Institute; Pavia Italy

14. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

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

16. Department of Human Genetics; Radboud University Nijmegen Medical Center; Nijmegen The Netherlands

17. National Institutes of Neurologic Disorders and Stroke; National Institutes of Health; Bethesda Maryland

18. Department of Child Neurology; VU University Medical Center; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. PTEN hamartoma tumor syndromes;Blumenthal;Eur J Hum Genet,2008

2. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations;Butler;J Med Genet,2005

3. Oculocerebrorenal syndrome of Lowe: Magnetic resonance imaging findings in the first six years of life;Carvalho-Neto;Arq Neuropsiquiatr,2009

4. Lhermitte-Duclos disease;Chiofalo;J Neurooncol,2007

5. Proteus syndrome: craniofacial and cerebral MRI;DeLone;Neuroradiology,1999

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