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See Gene information for ppmx syndrome

ppmx in Homo sapiensXenopus tropicalisAll 2 Gene records

syndrome in Drosophila melanogaster1 Gene record

Search results

Items: 6

1.

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destrée A, Lederer D, Moortgat S.

Eur J Med Genet. 2016 Oct;59(10):522-5. doi: 10.1016/j.ejmg.2016.07.003. Epub 2016 Jul 25.

PMID:
27465203
2.

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

Venkateswaran S, McMillan HJ, Doja A, Humphreys P.

Dev Med Child Neurol. 2014 Jan;56(1):91-4. doi: 10.1111/dmcn.12334. Epub 2013 Nov 15.

3.

MECP2-Related Disorders.

Christodoulou J, Ho G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Oct 3 [updated 2012 Jun 28].

4.

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation.

Jentarra GM, Olfers SL, Rice SG, Srivastava N, Homanics GE, Blue M, Naidu S, Narayanan V.

BMC Neurosci. 2010 Feb 17;11:19. doi: 10.1186/1471-2202-11-19.

5.

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A.

Am J Hum Genet. 2002 Apr;70(4):1034-7. Epub 2002 Feb 15.

6.

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE.

J Med Genet. 1997 Jul;34(7):529-34.

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