Literature DB >> 21480478

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

Gustavo H Vieira1, Jayson D Rodriguez, Raquel Boy, Isaias Soares de Paiva, Barbara R DuPont, Danilo Moretti-Ferreira, Anand K Srivastava.   

Abstract

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Year:  2011        PMID： 21480478     DOI： 10.1002/ajmg.a.33960

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Authors:  Bruno Faulin Gamba; Antônio Richieri-Costa; Silvia Costa; Carla Rosenberg; Lucilene Arilho Ribeiro-Bicudo
Journal:  Mol Genet Genomics       Date:  2015-06-04       Impact factor: 3.291

2.  Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Authors:  Gustavo H Vieira; Jayson D Rodriguez; Paulina Carmona-Mora; Lei Cao; Bruno F Gamba; Daniel R Carvalho; Andréa de Rezende Duarte; Suely R Santos; Deise H de Souza; Barbara R DuPont; Katherina Walz; Danilo Moretti-Ferreira; Anand K Srivastava
Journal:  Eur J Hum Genet       Date:  2011-09-07       Impact factor: 4.246

3.  Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Authors:  Maria Nicla Loviglio; Christine R Beck; Janson J White; Marion Leleu; Tamar Harel; Nicolas Guex; Anne Niknejad; Weimin Bi; Edward S Chen; Isaac Crespo; Jiong Yan; Wu-Lin Charng; Shen Gu; Ping Fang; Zeynep Coban-Akdemir; Chad A Shaw; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; Jacques Rougemont; Ioannis Xenarios; James R Lupski; Alexandre Reymond
Journal:  Genome Med       Date:  2016-11-01       Impact factor: 11.117

4.  Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Authors:  Pricila da Silva Cunha; Heloisa B Pena; Carla Sustek D'Angelo; Celia P Koiffmann; Jill A Rosenfeld; Lisa G Shaffer; Martin Stofanko; Higgor Gonçalves-Dornelas; Sérgio Danilo Junho Pena
Journal:  Dis Markers       Date:  2014-04-15       Impact factor: 3.434

5.  First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.

Authors:  Yousif Nijim; Amin Adawi; Bishara Bisharat; Abdalla Bowirrat
Journal:  Medicine (Baltimore)       Date:  2016-01       Impact factor: 1.817
  5 in total

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