Literature DB >> 31486937

Neurodevelopmental and associated changes in a patient with Xp22.31 duplication.

Christine MacColl1, Nina Stein2,3, Mark Tarnopolsky3,4, Jian-Qiang Lu5,6.   

Abstract

Entities:  

Year:  2019        PMID： 31486937     DOI： 10.1007/s10072-019-04065-1

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  6 in total

Review 1.  Malformations of cortical development.

Authors:  Trudy Pang; Ramin Atefy; Volney Sheen
Journal:  Neurologist       Date:  2008-05       Impact factor: 1.398

2.  Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Authors:  Pengfei Liu; Ayelet Erez; Sandesh C Sreenath Nagamani; Weimin Bi; Claudia M B Carvalho; Alexandra D Simmons; Joanna Wiszniewska; Ping Fang; Patricia A Eng; M Lance Cooper; V Reid Sutton; Elizabeth R Roeder; John B Bodensteiner; Mauricio R Delgado; Siddharth K Prakash; John W Belmont; Pawel Stankiewicz; Jonathan S Berg; Marwan Shinawi; Ankita Patel; Sau Wai Cheung; James R Lupski
Journal:  Hum Mol Genet       Date:  2011-02-25       Impact factor: 6.150

3.  Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Authors:  Feng Li; Yiping Shen; Udo Köhler; Freddie H Sharkey; Deepa Menon; Laurence Coulleaux; Valérie Malan; Marlène Rio; Dominic J McMullan; H Cox; Kerry A Fagan; Lorraine Gaunt; Kay Metcalfe; Uwe Heinrich; Gordon Hislop; Una Maye; Maxine Sutcliffe; Bai-Lin Wu; Brian D Thiel; Surabhi Mulchandani; Laura K Conlin; Nancy B Spinner; Kathleen M Murphy; Denise A S Batista
Journal:  Eur J Med Genet       Date:  2010-02-02       Impact factor: 2.708

4.  Duplication of the STS region in males is a benign copy-number variant.

Authors:  Aubry Furrow; Aaron Theisen; Lea Velsher; Erawati V Bawle; Sujatha Sastry; Nancy J Mendelsohn; Kristi Jarvis; Lisa G Shaffer; David Chitayat
Journal:  Am J Med Genet A       Date:  2011-07-07       Impact factor: 2.802

Review 5.  Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Authors:  Edward D Esplin; Ben Li; Anne Slavotinek; Antonio Novelli; Agatino Battaglia; Robin Clark; Cynthia Curry; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2014-05-06       Impact factor: 2.802

6.  Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

Authors:  Laura Addis; William Sproviero; Sanjeev V Thomas; Roberto H Caraballo; Stephen J Newhouse; Kumudini Gomez; Elaine Hughes; Maria Kinali; David McCormick; Siobhan Hannan; Silvia Cossu; Jacqueline Taylor; Cigdem I Akman; Steven M Wolf; David E Mandelbaum; Rajesh Gupta; Rick A van der Spek; Dario Pruna; Deb K Pal
Journal:  J Med Genet       Date:  2018-05-22       Impact factor: 6.318
  6 in total
  1 in total

1.  Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.

Authors:  Samuel J A Gubb; Lucija Brcic; Jack F G Underwood; Kimberley M Kendall; Xavier Caseras; George Kirov; William Davies
Journal:  Hum Mol Genet       Date:  2020-10-10       Impact factor: 6.150
  1 in total

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