Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome-Reference-Cited by-同舟云学术

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Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

Published:2014-01-31 Issue:7 Volume:133 Page:847-859
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Sarasua Sara M.,Boccuto Luigi,Sharp Julia L.,Dwivedi Alka,Chen Chin-Fu,Rollins Jonathan D.,Rogers R. Curtis,Phelan Katy,DuPont Barbara R.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-014-1423-7.pdf

Reference46 articles.

1. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB (2013) Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A 161A(1):131–136

2. Anderlid BM, Schoumans J, Anneren G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjold M (2002) FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 110(5):439–443

3. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG (2003) Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12(17):2153–2165

4. Betancur C, Sakurai T, Buxbaum JD (2009) The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci 32(7):402–412

5. Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE (2013) Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet 21(3):310–316

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2. Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome;Orphanet Journal of Rare Diseases;2024-03-26

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

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