Literature DB >> 19724011

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.

J-S Liang, K Shimojima, K Ohno, C Sugiura, Y Une, K Ohno, T Yamamoto.   

Abstract

Entities:  

Mesh:

Year:  2009        PMID: 19724011     DOI: 10.1136/jmg.2008.059220

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


× No keyword cloud information.
  14 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.  Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Authors:  Stephan J Sanders; A Gulhan Ercan-Sencicek; Vanessa Hus; Rui Luo; Michael T Murtha; Daniel Moreno-De-Luca; Su H Chu; Michael P Moreau; Abha R Gupta; Susanne A Thomson; Christopher E Mason; Kaya Bilguvar; Patricia B S Celestino-Soper; Murim Choi; Emily L Crawford; Lea Davis; Nicole R Davis Wright; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Stephanie Frahm; Rouben Garagaloyan; Gerald S Goh; Sindhuja Kammela; Lambertus Klei; Jennifer K Lowe; Sabata C Lund; Anna D McGrew; Kyle A Meyer; William J Moffat; John D Murdoch; Brian J O'Roak; Gordon T Ober; Rebecca S Pottenger; Melanie J Raubeson; Youeun Song; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Arthur L Beaudet; Rita M Cantor; Martin Curland; Dorothy E Grice; Murat Günel; Richard P Lifton; Shrikant M Mane; Donna M Martin; Chad A Shaw; Michael Sheldon; Jay A Tischfield; Christopher A Walsh; Eric M Morrow; David H Ledbetter; Eric Fombonne; Catherine Lord; Christa Lese Martin; Andrew I Brooks; James S Sutcliffe; Edwin H Cook; Daniel Geschwind; Kathryn Roeder; Bernie Devlin; Matthew W State
Journal:  Neuron       Date:  2011-06-09       Impact factor: 17.173

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.  The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders.

Authors:  Carla Liaci; Lucia Prandi; Lisa Pavinato; Alfredo Brusco; Mara Maldotti; Ivan Molineris; Salvatore Oliviero; Giorgio R Merlo
Journal:  Int J Mol Sci       Date:  2022-05-30       Impact factor: 6.208

Review 7.  The genomically mosaic brain: aneuploidy and more in neural diversity and disease.

Authors:  Diane M Bushman; Jerold Chun
Journal:  Semin Cell Dev Biol       Date:  2013-03-04       Impact factor: 7.727

Review 8.  Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.

Authors:  Heejeong Yoo
Journal:  Exp Neurobiol       Date:  2015-12-16       Impact factor: 3.261

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

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.