337 related articles for article (PubMed ID: 20513142)
21. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Elia M; Falco M; Ferri R; Spalletta A; Bottitta M; Calabrese G; Carotenuto M; Musumeci SA; Lo Giudice M; Fichera M
Neurology; 2008 Sep; 71(13):997-9. PubMed ID: 18809835
[TBL] [Abstract][Full Text] [Related]
22. Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
Wada T; Kubota T; Fukushima Y; Saitoh S
Am J Med Genet; 2000 Sep; 94(3):242-8. PubMed ID: 10995512
[TBL] [Abstract][Full Text] [Related]
23. Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N; Nectoux J; Rosas-Vargas H; Milh M; Boddaert N; Girard B; Cances C; Ville D; Afenjar A; Rio M; Héron D; N'guyen Morel MA; Arzimanoglou A; Philippe C; Jonveaux P; Chelly J; Bienvenu T
Brain; 2008 Oct; 131(Pt 10):2647-61. PubMed ID: 18790821
[TBL] [Abstract][Full Text] [Related]
24. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
[TBL] [Abstract][Full Text] [Related]
25. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS; Christodoulou J; Williamson SL; Friend KL; McKenzie OL; Archer H; Evans J; Clarke A; Pelka GJ; Tam PP; Watson C; Lahooti H; Ellaway CJ; Bennetts B; Leonard H; Gécz J
Am J Hum Genet; 2004 Dec; 75(6):1079-93. PubMed ID: 15492925
[TBL] [Abstract][Full Text] [Related]
26. SOX18 directly interacts with MEF2C in endothelial cells.
Hosking BM; Wang SC; Chen SL; Penning S; Koopman P; Muscat GE
Biochem Biophys Res Commun; 2001 Sep; 287(2):493-500. PubMed ID: 11554755
[TBL] [Abstract][Full Text] [Related]
27. The MEF2C gene-microdeletion 5q14.3 dilemma and three axioms for molecular syndromology.
Wilson GN
Am J Med Genet A; 2013 Apr; 161A(4):916-7. PubMed ID: 23495102
[No Abstract] [Full Text] [Related]
28. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Engels H; Wohlleber E; Zink A; Hoyer J; Ludwig KU; Brockschmidt FF; Wieczorek D; Moog U; Hellmann-Mersch B; Weber RG; Willatt L; Kreiss-Nachtsheim M; Firth HV; Rauch A
Eur J Hum Genet; 2009 Dec; 17(12):1592-9. PubMed ID: 19471318
[TBL] [Abstract][Full Text] [Related]
29. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Marseglia G; Scordo MR; Pescucci C; Nannetti G; Biagini E; Scandurra V; Gerundino F; Magi A; Benelli M; Torricelli F
Eur J Med Genet; 2012 Mar; 55(3):216-21. PubMed ID: 22333924
[TBL] [Abstract][Full Text] [Related]
30. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
Nectoux J; Heron D; Tallot M; Chelly J; Bienvenu T
Clin Genet; 2006 Jul; 70(1):29-33. PubMed ID: 16813600
[TBL] [Abstract][Full Text] [Related]
31. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S; Héron D; Gaillon T; Moldovan O; Rossi M; Devillard F; Giuliano F; Soares G; Mathieu-Dramard M; Afenjar A; Charles P; Mignot C; Burglen L; Van Maldergem L; Piard J; Aftimos S; Mancini G; Dias P; Philip N; Goldenberg A; Le Merrer M; Rio M; Josifova D; Van Hagen JM; Lacombe D; Edery P; Dupuis-Girod S; Putoux A; Sanlaville D; Fischer R; Drévillon L; Briand-Suleau A; Metay C; Goossens M; Amiel J; Jacquette A; Giurgea I
Hum Mutat; 2012 Jan; 33(1):64-72. PubMed ID: 22045651
[TBL] [Abstract][Full Text] [Related]
32. Cooperative activation of atrial naturetic peptide promoter by dHAND and MEF2C.
Zang MX; Li Y; Xue LX; Jia HT; Jing H
J Cell Biochem; 2004 Dec; 93(6):1255-66. PubMed ID: 15486975
[TBL] [Abstract][Full Text] [Related]
33. Phosphorylation-facilitated sumoylation of MEF2C negatively regulates its transcriptional activity.
Kang J; Gocke CB; Yu H
BMC Biochem; 2006 Feb; 7():5. PubMed ID: 16478538
[TBL] [Abstract][Full Text] [Related]
34. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
Raizis AM; Saleem M; MacKay R; George PM
N Z Med J; 2009 Jun; 122(1296):21-8. PubMed ID: 19652677
[TBL] [Abstract][Full Text] [Related]
35. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
[TBL] [Abstract][Full Text] [Related]
36. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C; Lambert L; Giuliano F; Doray B; Roubertie A; Goldenberg A; Delobel B; Layet V; N'guyen MA; Saunier A; Verneau F; Jonveaux P; Philippe C
Clin Genet; 2009 Oct; 76(4):357-71. PubMed ID: 19793311
[TBL] [Abstract][Full Text] [Related]
37. Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.
Khajuria R; Gupta N; Sapra S; Gulati S; Ghosh M; Kalra V; Kabra M
Brain Dev; 2012 Jan; 34(1):28-31. PubMed ID: 21300488
[TBL] [Abstract][Full Text] [Related]
38. Chromosome 5q subtelomeric deletion syndrome.
Rauch A; Dörr HG
Am J Med Genet C Semin Med Genet; 2007 Nov; 145C(4):372-6. PubMed ID: 17910075
[TBL] [Abstract][Full Text] [Related]
39. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
Amano K; Nomura Y; Segawa M; Yamakawa K
J Hum Genet; 2000; 45(4):231-6. PubMed ID: 10944854
[TBL] [Abstract][Full Text] [Related]
40. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
