Literature DB >> 18310269

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

E Chabchoub, J R Vermeesch, T de Ravel, P de Cock, J-P Fryns.   

Abstract

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Year:  2008        PMID： 18310269     DOI： 10.1136/jmg.2007.056176

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

1.  2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.

Authors:  Xudong Liu; Patrick Malenfant; Chelsea Reesor; Alana Lee; Melissa L Hudson; Chansonette Harvard; Ying Qiao; Antonio M Persico; Ira L Cohen; Albert E Chudley; Cynthia Forster-Gibson; Evica Rajcan-Separovic; M E Suzanne Lewis; Jeanette J A Holden
Journal:  Eur J Hum Genet       Date:  2011-07-13       Impact factor: 4.246

2.  BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Authors:  Anindita Basak; Miroslava Hancarova; Jacob C Ulirsch; Tugce B Balci; Marie Trkova; Michal Pelisek; Marketa Vlckova; Katerina Muzikova; Jaroslav Cermak; Jan Trka; David A Dyment; Stuart H Orkin; Mark J Daly; Zdenek Sedlacek; Vijay G Sankaran
Journal:  J Clin Invest       Date:  2015-05-04       Impact factor: 14.808

3.  Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Authors:  Hani Bagheri; Chansonette Badduke; Ying Qiao; Rita Colnaghi; Iga Abramowicz; Diana Alcantara; Christopher Dunham; Jiadi Wen; Robert S Wildin; Malgorzata Jm Nowaczyk; Jennifer Eichmeyer; Anna Lehman; Bruno Maranda; Sally Martell; Xianghong Shan; Suzanne Me Lewis; Mark O'Driscoll; Cheryl Y Gregory-Evans; Evica Rajcan-Separovic
Journal:  JCI Insight       Date:  2016-03-17

4.  De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.

Authors:  Don Chamil Codipilly; Ralitza H Gavrilova; Eric G Tangalos
Journal:  BMJ Case Rep       Date:  2017-01-20

5.  Further characterization of microdeletion syndrome involving 2p15-p16.1.

Authors:  Têmis Maria Félix; Aline Lourenço Petrin; Maria Teresa Vieira Sanseverino; Jeffrey C Murray
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

Review 6.  Novel microdeletion syndromes detected by chromosome microarrays.

Authors:  Anne M Slavotinek
Journal:  Hum Genet       Date:  2008-05-30       Impact factor: 4.132

7.  Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.

Authors:  Hiroko Shimbo; Takayuki Yokoi; Noriko Aida; Seiji Mizuno; Hiroshi Suzumura; Junichi Nagai; Kazumi Ida; Yumi Enomoto; Chihiro Hatano; Kenji Kurosawa
Journal:  Mol Genet Genomic Med       Date:  2017-05-22       Impact factor: 2.183

8.  Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

Authors:  Carolina J Jorgez; Jill A Rosenfeld; Nathan R Wilken; Hima V Vangapandu; Aysegul Sahin; Dung Pham; Claudia M B Carvalho; Anne Bandholz; Amanda Miller; David D Weaver; Barbara Burton; Deepti Babu; John S Bamforth; Timothy Wilks; Daniel P Flynn; Elizabeth Roeder; Ankita Patel; Sau W Cheung; James R Lupski; Dolores J Lamb
Journal:  PLoS One       Date:  2014-09-09       Impact factor: 3.240

9.  Effects of VRK2 (rs2312147) on white matter connectivity in patients with schizophrenia.

Authors:  Hoyoung Sohn; Borah Kim; Keun Hyang Kim; Min-Kyoung Kim; Tai Kiu Choi; Sang-Hyuk Lee
Journal:  PLoS One       Date:  2014-07-31       Impact factor: 3.240

10.  Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

Authors:  Beate Peter; Ellen M Wijsman; Alejandro Q Nato; Mark M Matsushita; Kathy L Chapman; Ian B Stanaway; John Wolff; Kaori Oda; Virginia B Gabo; Wendy H Raskind
Journal:  PLoS One       Date:  2016-04-27       Impact factor: 3.240
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