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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jun 5, 2023. (Total: 217663Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Atypical Rett Syndrome[original query]
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
Journal of medical genetics 2006 May 43 (5): 451-6.
Archer H L, Whatley S D, Evans J C, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies S J, Reardon W, Horn J, MacDermot K D, Smith R A, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper D N, Lazarou L, Butler R, Sampson J, Pilz D T, Laccone F, Clarke A
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Neurogenetics 2009 Jul 10 (3): 241-50.
Russo S, Marchi M, Cogliati F, Bonati M T, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Clinical genetics 2009 Oct 76 (4): 357-71.
Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen M A, Saunier A, Verneau F, Jonveaux P, Philippe
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Human mutation 2010 Jun 31 (6): 722-33.
Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
Gene 2012 Dec .
Das DK, Raha S, Sanghavi D, Maitra A, Udani V
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25.
Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
Folia biologica 2016 62 (2): 67-74.
Záhoráková D, Langová M, Brožová K, Lašt?vková J, Kalina Z, Rennerová L, Martásek
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