Literature DB >> 18245392

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

N de Leeuw, R Pfundt, D A Koolen, I Neefs, I Scheltinga, H Mieloo, E A Sistermans, W Nillesen, D F Smeets, B B A de Vries, N V A M Knoers.   

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Year:  2008        PMID： 18245392     DOI： 10.1136/jmg.2007.054049

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


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  15 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.  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

3.  Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Authors:  Clara Sze-Man Tang; Hongsheng Gui; Ashish Kapoor; Jeong-Hyun Kim; Berta Luzón-Toro; Anna Pelet; Grzegorz Burzynski; Francesca Lantieri; Man-Ting So; Courtney Berrios; Hyoung Doo Shin; Raquel M Fernández; Thuy-Linh Le; Joke B G M Verheij; Ivana Matera; Stacey S Cherny; Priyanka Nandakumar; Hyun Sub Cheong; Guillermo Antiñolo; Jeanne Amiel; Jeong-Meen Seo; Dae-Yeon Kim; Jung-Tak Oh; Stanislas Lyonnet; Salud Borrego; Isabella Ceccherini; Robert M W Hofstra; Aravinda Chakravarti; Hyun-Young Kim; Pak Chung Sham; Paul K H Tam; Maria-Mercè Garcia-Barceló
Journal:  Hum Mol Genet       Date:  2016-12-01       Impact factor: 6.150

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.  Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics.

Authors:  Yongqin Ye; Vincent Chi Hang Lui; Paul Kwong Hang Tam
Journal:  Genes (Basel)       Date:  2022-06-08       Impact factor: 4.141

Review 7.  Novel microdeletion syndromes detected by chromosome microarrays.

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

8.  Molecular cytogenetics and cytogenomics of brain diseases.

Authors:  I Y Iourov; S G Vorsanova; Y B Yurov
Journal:  Curr Genomics       Date:  2008-11       Impact factor: 2.236

9.  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

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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