Literature DB >> 12210308

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.

Bert B A de Vries, Guido J Breedveld, Wouter H Deelen, Martijn H Breuning, Martinus F Niermeijer, Peter Heutink.   

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Year:  2002        PMID： 12210308     DOI： 10.1002/ajmg.10576

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

1.  Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Authors:  D Lugtenberg; A P M de Brouwer; T Kleefstra; A R Oudakker; S G M Frints; C T R M Schrander-Stumpel; J P Fryns; L R Jensen; J Chelly; C Moraine; G Turner; J A Veltman; B C J Hamel; B B A de Vries; H van Bokhoven; H G Yntema
Journal:  J Med Genet       Date:  2005-09-16       Impact factor: 6.318

2.  CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons.

Authors:  Danny McSweeney; Rafael Gabriel; Kang Jin; Zhiping P Pang; Bruce Aronow; ChangHui Pak
Journal:  iScience       Date:  2022-09-23

3.  Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

Authors:  Vera M Kalscheuer; Victoria M James; Miranda L Himelright; Philip Long; Renske Oegema; Corinna Jensen; Melanie Bienek; Hao Hu; Stefan A Haas; Maya Topf; A Jeannette M Hoogeboom; Kirsten Harvey; Randall Walikonis; Robert J Harvey
Journal:  Front Mol Neurosci       Date:  2016-01-11       Impact factor: 5.639
  3 in total

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