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See Gene information for ppmx syndrome

ppmx in Homo sapiensXenopus tropicalisAll 2 Gene records

syndrome in Drosophila melanogaster1 Gene record

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Items: 6


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.


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.


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].


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.


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.


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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