144 related articles for article (PubMed ID: 18428203)
21. X-linked mental retardation: many genes for a complex disorder.
Ropers HH
Curr Opin Genet Dev; 2006 Jun; 16(3):260-9. PubMed ID: 16647850
[TBL] [Abstract][Full Text] [Related]
22. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D; Travaglini L; Drouin CA; Ceballos-Picot I; Rizza T; Bertini E; Carrozzo R; Petrini S; de Lonlay P; El Hachem M; Hubert L; Montpetit A; Torre G; Dionisi-Vici C
Brain; 2013 Mar; 136(Pt 3):872-81. PubMed ID: 23423674
[TBL] [Abstract][Full Text] [Related]
23. [ARX mutations and mental retardation of unknown etiology: three new cases in Spain].
Romero-Rubio MT; Andrés-Celma M; Castelló-Pomares ML; Roselló M; Ferrer-Bolufer I; Martínez-Castellano F
Rev Neurol; 2008 Dec 16-31; 47(12):634-7. PubMed ID: 19085879
[TBL] [Abstract][Full Text] [Related]
24. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
Van Esch H; Zanni G; Holvoet M; Borghgraef M; Chelly J; Fryns JP; Devriendt K
Eur J Med Genet; 2005; 48(2):145-52. PubMed ID: 16053905
[TBL] [Abstract][Full Text] [Related]
25. A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Rejeb I; Saillour Y; Castelnau L; Julien C; Bienvenu T; Taga P; Chaabouni H; Chelly J; Ben Jemaa L; Bahi-Buisson N
Eur J Hum Genet; 2008 Nov; 16(11):1358-63. PubMed ID: 18523455
[TBL] [Abstract][Full Text] [Related]
26. AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway.
Candiello E; Kratzke M; Wenzel D; Cassel D; Schu P
Sci Rep; 2016 Jul; 6():29950. PubMed ID: 27411398
[TBL] [Abstract][Full Text] [Related]
27. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
Bergmann C; Zerres K; Senderek J; Rudnik-Schoneborn S; Eggermann T; Häusler M; Mull M; Ramaekers VT
Brain; 2003 Jul; 126(Pt 7):1537-44. PubMed ID: 12805098
[TBL] [Abstract][Full Text] [Related]
28. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
Mandel JL; Chelly J
Eur J Hum Genet; 2004 Sep; 12(9):689-93. PubMed ID: 15319782
[TBL] [Abstract][Full Text] [Related]
29. X-linked mental retardation.
Lisik MZ; Sieron AL
Med Sci Monit; 2008 Nov; 14(11):RA221-9. PubMed ID: 18971887
[TBL] [Abstract][Full Text] [Related]
30. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
Kousoulidou L; Parkel S; Zilina O; Palta P; Puusepp H; Remm M; Turner G; Boyle J; van Bokhoven H; de Brouwer A; Van Esch H; Froyen G; Ropers HH; Chelly J; Moraine C; Gecz J; Kurg A; Patsalis PC
Eur J Med Genet; 2007; 50(6):399-410. PubMed ID: 17980689
[TBL] [Abstract][Full Text] [Related]
31. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
Troester MM; Trachtenberg T; Narayanan V
J Child Neurol; 2007 Jun; 22(6):744-8. PubMed ID: 17641262
[TBL] [Abstract][Full Text] [Related]
32. X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
Jensen LR; Lenzner S; Moser B; Freude K; Tzschach A; Wei C; Fryns JP; Chelly J; Turner G; Moraine C; Hamel B; Ropers HH; Kuss AW
Eur J Hum Genet; 2007 Jan; 15(1):68-75. PubMed ID: 16969374
[TBL] [Abstract][Full Text] [Related]
33. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Morava E; Zeevaert R; Korsch E; Huijben K; Wopereis S; Matthijs G; Keymolen K; Lefeber DJ; De Meirleir L; Wevers RA
Eur J Hum Genet; 2007 Jun; 15(6):638-45. PubMed ID: 17356545
[TBL] [Abstract][Full Text] [Related]
34. ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
Gestinari-Duarte Rde S; Santos-Rebouças CB; Boy RT; Pimentel MM
Eur J Med Genet; 2006; 49(3):269-75. PubMed ID: 16762829
[TBL] [Abstract][Full Text] [Related]
35. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
Klauck SM; Felder B; Kolb-Kokocinski A; Schuster C; Chiocchetti A; Schupp I; Wellenreuther R; Schmötzer G; Poustka F; Breitenbach-Koller L; Poustka A
Mol Psychiatry; 2006 Dec; 11(12):1073-84. PubMed ID: 16940977
[TBL] [Abstract][Full Text] [Related]
36. Nonsyndromic X-linked mental retardation: where are the missing mutations?
Ropers HH; Hoeltzenbein M; Kalscheuer V; Yntema H; Hamel B; Fryns JP; Chelly J; Partington M; Gecz J; Moraine C
Trends Genet; 2003 Jun; 19(6):316-20. PubMed ID: 12801724
[TBL] [Abstract][Full Text] [Related]
37. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
Rump P; Niessen RC; Verbruggen KT; Brouwer OF; de Raad M; Hordijk R
Clin Genet; 2011 Feb; 79(2):183-8. PubMed ID: 20507344
[TBL] [Abstract][Full Text] [Related]
38. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
Mangelsdorf M; Chevrier E; Mustonen A; Picketts DJ
J Child Neurol; 2009 May; 24(5):610-4. PubMed ID: 19264739
[TBL] [Abstract][Full Text] [Related]
39. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
de Alencastro G; McCloskey DE; Kliemann SE; Maranduba CM; Pegg AE; Wang X; Bertola DR; Schwartz CE; Passos-Bueno MR; Sertié AL
J Med Genet; 2008 Aug; 45(8):539-43. PubMed ID: 18550699
[TBL] [Abstract][Full Text] [Related]
40. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Kleefstra T; van Zelst-Stams WA; Nillesen WM; Cormier-Daire V; Houge G; Foulds N; van Dooren M; Willemsen MH; Pfundt R; Turner A; Wilson M; McGaughran J; Rauch A; Zenker M; Adam MP; Innes M; Davies C; López AG; Casalone R; Weber A; Brueton LA; Navarro AD; Bralo MP; Venselaar H; Stegmann SP; Yntema HG; van Bokhoven H; Brunner HG
J Med Genet; 2009 Sep; 46(9):598-606. PubMed ID: 19264732
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
