Literature DB >> 14735593

Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

Carlos Magno da Costa Maranduba, Eloísa Sá Moreira, Guilherme Müller Orabona, Rita Cássia Pavanello, Angela M Vianna-Morgante, Maria Rita Passos-Bueno.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 14735593     DOI： 10.1002/ajmg.a.20401

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  7 in total

Review 1.  X linked mental retardation: a clinical guide.

Authors:  F L Raymond
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

2.  Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Authors:  A Piton; J Gauthier; F F Hamdan; R G Lafrenière; Y Yang; E Henrion; S Laurent; A Noreau; P Thibodeau; L Karemera; D Spiegelman; F Kuku; J Duguay; L Destroismaisons; P Jolivet; M Côté; K Lachapelle; O Diallo; A Raymond; C Marineau; N Champagne; L Xiong; C Gaspar; J-B Rivière; J Tarabeux; P Cossette; M-O Krebs; J L Rapoport; A Addington; L E Delisi; L Mottron; R Joober; E Fombonne; P Drapeau; G A Rouleau
Journal:  Mol Psychiatry       Date:  2010-05-18       Impact factor: 15.992

3.  Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.

Authors:  Hyejung Won; Won Mah; Eunjoon Kim
Journal:  Front Mol Neurosci       Date:  2013-08-05       Impact factor: 5.639

4.  Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese.

Authors:  Jianmin Yuan; Chunhui Jin; Hai-De Qin; Jidong Wang; Weiwei Sha; Mingzhong Wang; Yunbiao Zhang; Fuquan Zhang; Jijiang Li; Jianfeng Li; Shui Yu; Shuguang Qi; Yin Yao Shugart
Journal:  PLoS One       Date:  2013-03-07       Impact factor: 3.240

5.  Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

Authors:  Guiqing Cai; Lisa Edelmann; Juliet E Goldsmith; Ninette Cohen; Alisa Nakamine; Jennifer G Reichert; Ellen J Hoffman; Danielle M Zurawiecki; Jeremy M Silverman; Eric Hollander; Latha Soorya; Evdokia Anagnostou; Catalina Betancur; Joseph D Buxbaum
Journal:  BMC Med Genomics       Date:  2008-10-16       Impact factor: 3.063

6.  Improved definition of the mouse transcriptome via targeted RNA sequencing.

Authors:  Giovanni Bussotti; Tommaso Leonardi; Michael B Clark; Tim R Mercer; Joanna Crawford; Lorenzo Malquori; Cedric Notredame; Marcel E Dinger; John S Mattick; Anton J Enright
Journal:  Genome Res       Date:  2016-05       Impact factor: 9.043

7.  VARPRISM: incorporating variant prioritization in tests of de novo mutation association.

Authors:  Hao Hu; Hilary Coon; Man Li; Mark Yandell; Chad D Huff
Journal:  Genome Med       Date:  2016-08-25       Impact factor: 11.117
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.