Literature DB >> 24078047

Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?

Wladimir Bocca Vieira de Rezende Pinto1, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira, Orlando Graziani Povoas Barsottini.   

Abstract

Entities:  

Year:  2013        PMID： 24078047     DOI： 10.1007/s00415-013-7127-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

1.  Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Authors:  Sara M Sarasua; Alka Dwivedi; Luigi Boccuto; Jonathan D Rollins; Chin-Fu Chen; R Curtis Rogers; Katy Phelan; Barbara R DuPont; Julianne S Collins
Journal:  J Med Genet       Date:  2011-10-07       Impact factor: 6.318

2.  Phelan-McDermid syndrome: clinical report of a 70-year-old woman.

Authors:  Willem M A Verhoeven; Jos I M Egger; Ruthy Cohen-Snuijf; Sarina G Kant; Nicole de Leeuw
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

Review 3.  Tuberous sclerosis complex: a review.

Authors:  Alexander K C Leung; W Lane M Robson
Journal:  J Pediatr Health Care       Date:  2007 Mar-Apr       Impact factor: 1.812

4.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors:  K Phelan; H E McDermid
Journal:  Mol Syndromol       Date:  2011-11-22

5.  [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].

Authors:  S Strenge; U G Froster; A Kujat; M Bernhard; A Merkenschlager
Journal:  Klin Padiatr       Date:  2008 Sep-Oct       Impact factor: 1.349

Review 6.  22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.

Authors:  Kristina Cusmano-Ozog; Melanie A Manning; H Eugene Hoyme
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-11-15       Impact factor: 3.908

Review 7.  Autism genetics.

Authors:  Antonio M Persico; Valerio Napolioni
Journal:  Behav Brain Res       Date:  2013-06-13       Impact factor: 3.332

Review 8.  Complex single gene disorders and epilepsy.

Authors:  Aine Merwick; Margaret O'Brien; Norman Delanty
Journal:  Epilepsia       Date:  2012-09       Impact factor: 5.864

9.  Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Authors:  N J Nesslinger; J L Gorski; T W Kurczynski; S K Shapira; J Siegel-Bartelt; J P Dumanski; R F Cullen; B N French; H E McDermid
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

10.  Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Authors:  Willem Ma Verhoeven; Jos Im Egger; Marjolein H Willemsen; Gert Jm de Leijer; Tjitske Kleefstra
Journal:  Neuropsychiatr Dis Treat       Date:  2012-04-19       Impact factor: 2.570
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