Literature DB >> 27350689

Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability.

Jamileh Malbin1, Mohammad-Sadegh Fallah, Zohreh Sharifi, Mahsa Shafaei, Hamideh Bagherian, Tahereh Pour Mostafaei, Ramiz Aliev, Sirous Zainal.   

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Year:  2016        PMID： 27350689     DOI： 10.1007/s12041-016-0630-5

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  18 in total

Review 1.  Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Authors:  Mitsuo Motobayashi; Akira Nishimura-Tadaki; Yuji Inaba; Tomoki Kosho; Satoko Miyatake; Taemi Niimi; Takafumi Nishimura; Keiko Wakui; Yoshimitsu Fukushima; Naomichi Matsumoto; Kenichi Koike
Journal:  Am J Med Genet A       Date:  2012-03-09       Impact factor: 2.802

2.  A genomewide scan for intelligence identifies quantitative trait loci on 2q and 6p.

Authors:  Danielle Posthuma; Michelle Luciano; Eco J C de Geus; Margie J Wright; P Eline Slagboom; Grant W Montgomery; Dorret I Boomsma; Nicholas G Martin
Journal:  Am J Hum Genet       Date:  2005-07-01       Impact factor: 11.025

3.  Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.

Authors:  Shinichi Takatsuki; Rina Nakamura; Youichi Haga; Kazumasa Mitsui; Takuji Hashimoto; Keiko Shimojima; Tsutomu Saji; Toshiyuki Yamamoto
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

4.  Cooperation of nuclear fibroblast growth factor receptor 1 and Nurr1 offers new interactive mechanism in postmitotic development of mesencephalic dopaminergic neurons.

Authors:  Olga Baron; Benjamin Förthmann; Yu-Wei Lee; Christopher Terranova; Andreas Ratzka; Ewa K Stachowiak; Claudia Grothe; Peter Claus; Michal K Stachowiak
Journal:  J Biol Chem       Date:  2012-04-18       Impact factor: 5.157

Review 5.  Terminal 2q deletion and partial trisomy chromosome 15q: a clinical and cytogenetic study.

Authors:  H T El-Bassyouni; A M S El-Gerzawy; A M Mohamed; A K Kamel; H A Hussein; M M Thomas; M El-Ruby
Journal:  Genet Couns       Date:  2014

6.  A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Authors:  Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; Nicolette S den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia A L Ruivenkamp
Journal:  Eur J Hum Genet       Date:  2009-05-13       Impact factor: 4.246

7.  Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.

Authors:  Hussein Daoud; Nicolas Gruchy; Jean-Marc Constans; Edgar Moussaoui; Simone Saumureau; Nadia Bayou; Maïté Amy; Sylviane Védrine; Phi Yen Vu; Agnès Rötig; Frédéric Laumonnier; Patrick Vourc'h; Christian R Andres; Nathalie Leporrier; Sylvain Briault
Journal:  Hum Genet       Date:  2008-11-16       Impact factor: 4.132

8.  An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

Authors:  Helle Lybaek; Karen Helene Ørstavik; Trine Prescott; Randi Hovland; Harald Breilid; Christine Stansberg; Vidar Martin Steen; Gunnar Houge
Journal:  Eur J Hum Genet       Date:  2009-01-21       Impact factor: 4.246

9.  Analysis and mapping of CACNB4, CHRNA1, KCNJ3, SCN2A and SPG4, physiological candidate genes for porcine congenital progressive ataxia and spastic paresis.

Authors:  S Genini; A Kratzsch; B Korczak; S Neuenschwander; B Brenig; H Jörg; E Bürgi; P Ossent; G Stranzinger; P Vögeli
Journal:  J Anim Breed Genet       Date:  2007-10       Impact factor: 2.380

10.  Association study of the KCNJ3 gene as a susceptibility candidate for schizophrenia in the Chinese population.

Authors:  Kazuo Yamada; Yoshimi Iwayama; Tomoko Toyota; Tetsuo Ohnishi; Hisako Ohba; Motoko Maekawa; Takeo Yoshikawa
Journal:  Hum Genet       Date:  2011-09-17       Impact factor: 4.132
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