Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children-Reference-Cited by-同舟云学术

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Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

Published:2016-04-26 Issue:1 Volume:8 Page:
ISSN:1866-1947
Container-title:Journal of Neurodevelopmental Disorders
language:en
Short-container-title:J Neurodevelop Disord

Author:

Zwanenburg Renée J.,Ruiter Selma A.J.,van den Heuvel Edwin R.,Flapper Boudien C.T.,Van Ravenswaaij-Arts Conny M.A.

Funder

Netherlands Organisation for Health Research and Development (NL)

Publisher

Springer Science and Business Media LLC

Subject

Cognitive Neuroscience,Neurology (clinical),Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s11689-016-9150-0

Reference39 articles.

1. Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a “pure” partial monosomy syndrome. J Med Genet. 1985;22:283–7.

2. Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol. 2012;2:186–201.

3. Verhoeven WM, Egger JI, Willemsen MH, de Leijer GJ, Kleefstra T. Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype? Neuropsychiatr Dis Treat. 2012;8:175–9.

4. Denayer A, Van Esch H, de Ravel T, Frijns JP, Van Buggenhout G, Vogels A, Devriendt K, Geutjens J, Thiry P, Swillen A. Neuropsychopathology in 7 patients with the 22q13 deletion syndrome: presence of bipolar disorder and progressive loss of skills. Mol Syndromol. 2012;3:14–20.

5. Vucurovic K, Landais E, Delahaigue C, Eutrope J, Schneider A, Leroy C, Kabbaj H, Motte J, Gaillard D, Rolland A-C, Doco-Fenzy M. Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion. Eur J Med Genet. 2012;55:625–9.

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2. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome;Clinical Genetics;2024-02-27

3. Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers—A Thematic Analysis of Semi-Structured Interviews;Children;2023-08-28

4. Updated consensus guidelines on the management of Phelan–McDermid syndrome;American Journal of Medical Genetics Part A;2023-07

5. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-07

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