146 related articles for article (PubMed ID: 21736009)
1. Mutations in GDI1 and X-linked non-specific mental retardation.
Dell'Amico MC; Vivani P; Miccoli M; Cecconi M; Baggiani A
Ann Ig; 2011; 23(1):71-9. PubMed ID: 21736009
[TBL] [Abstract][Full Text] [Related]
2. Genes responsible for nonspecific mental retardation.
Castellví-Bel S; Milà M
Mol Genet Metab; 2001 Feb; 72(2):104-8. PubMed ID: 11161835
[TBL] [Abstract][Full Text] [Related]
3. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Kutsche K; Yntema H; Brandt A; Jantke I; Nothwang HG; Orth U; Boavida MG; David D; Chelly J; Fryns JP; Moraine C; Ropers HH; Hamel BC; van Bokhoven H; Gal A
Nat Genet; 2000 Oct; 26(2):247-50. PubMed ID: 11017088
[TBL] [Abstract][Full Text] [Related]
4. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
Rujirabanjerd S; Tongsippunyoo K; Sripo T; Limprasert P
Eur J Med Genet; 2007; 50(5):346-54. PubMed ID: 17613295
[TBL] [Abstract][Full Text] [Related]
5. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
Lesca G; Bernard V; Bozon M; Touraine R; Gérard D; Edery P; Calender A
Eur J Med Genet; 2007; 50(3):200-8. PubMed ID: 17383248
[TBL] [Abstract][Full Text] [Related]
6. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
7. [X-linked mental retardation].
Billuart P; Chelly J; Gilgenkrantz S
Med Sci (Paris); 2005 Nov; 21(11):947-53. PubMed ID: 16274646
[TBL] [Abstract][Full Text] [Related]
8. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
Mandel JL; Biancalana V
Growth Horm IGF Res; 2004 Jun; 14 Suppl A():S158-65. PubMed ID: 15135801
[TBL] [Abstract][Full Text] [Related]
9. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
Froyen G; Van Esch H; Bauters M; Hollanders K; Frints SG; Vermeesch JR; Devriendt K; Fryns JP; Marynen P
Hum Mutat; 2007 Oct; 28(10):1034-42. PubMed ID: 17546640
[TBL] [Abstract][Full Text] [Related]
10. [X-linked mental retardation: variations in the fragile X mutations and genetic counseling].
Kondo I; Kurokawa Y
Nihon Koshu Eisei Zasshi; 1993 Aug; 40(8):599-605. PubMed ID: 8219287
[TBL] [Abstract][Full Text] [Related]
11. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG; Lenzner S; Bauters M; Jensen LR; Van Esch H; des Portes V; Moog U; Macville MV; van Roozendaal K; Schrander-Stumpel CT; Tzschach A; Marynen P; Fryns JP; Hamel B; van Bokhoven H; Chelly J; Beldjord C; Turner G; Gecz J; Moraine C; Raynaud M; Ropers HH; Froyen G; Kuss AW
Eur J Hum Genet; 2008 Sep; 16(9):1029-37. PubMed ID: 18398436
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene].
de Vries LB; Oostra BA
Ned Tijdschr Geneeskd; 2001 Mar; 145(10):474-6. PubMed ID: 11268909
[TBL] [Abstract][Full Text] [Related]
14. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
Marco EJ; Abidi FE; Bristow J; Dean WB; Cotter P; Jeremy RJ; Schwartz CE; Sherr EH
J Med Genet; 2008 Feb; 45(2):100-5. PubMed ID: 17893116
[TBL] [Abstract][Full Text] [Related]
15. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M; van den Boogaard MJ; Sinke R; van Lieshout S; van Tuil MC; Duran K; Renkens I; Terhal PA; de Kovel C; Nijman IJ; van Haelst M; Knoers NV; van Haaften G; Kloosterman W; Hennekam RC; Cuppen E; Ploos van Amstel HK
J Med Genet; 2012 Aug; 49(8):539-43. PubMed ID: 22889856
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
Rousseau F; Heitz D; Biancalana V; Blumenfeld S; Kretz C; Boué J; Tommerup N; Van Der Hagen C; DeLozier-Blanchet C; Croquette MF
N Engl J Med; 1991 Dec; 325(24):1673-81. PubMed ID: 1944467
[TBL] [Abstract][Full Text] [Related]
18. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
Shimojima K; Sugawara M; Shichiji M; Mukaida S; Takayama R; Imai K; Yamamoto T
J Hum Genet; 2011 Aug; 56(8):561-5. PubMed ID: 21633362
[TBL] [Abstract][Full Text] [Related]
19. [Sex-linked mental retardation].
Hamel BC; Poppelaars FA
Ned Tijdschr Geneeskd; 2000 Sep; 144(36):1713-6. PubMed ID: 10992892
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]