157 related articles for article (PubMed ID: 16969374)
1. 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]
2. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
Chen W; Jensen LR; Gecz J; Fryns JP; Moraine C; de Brouwer A; Chelly J; Moser B; Ropers HH; Kuss AW
Eur J Hum Genet; 2007 Mar; 15(3):375-8. PubMed ID: 17180121
[TBL] [Abstract][Full Text] [Related]
5. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
Honda S; Hayashi S; Imoto I; Toyama J; Okazawa H; Nakagawa E; Goto Y; Inazawa J
J Hum Genet; 2010 Sep; 55(9):590-9. PubMed ID: 20613765
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP; Yntema HG; Kleefstra T; Lugtenberg D; Oudakker AR; de Vries BB; van Bokhoven H; Van Esch H; Frints SG; Froyen G; Fryns JP; Raynaud M; Moizard MP; Ronce N; Bensalem A; Moraine C; Poirier K; Castelnau L; Saillour Y; Bienvenu T; Beldjord C; des Portes V; Chelly J; Turner G; Fullston T; Gecz J; Kuss AW; Tzschach A; Jensen LR; Lenzner S; Kalscheuer VM; Ropers HH; Hamel BC
Hum Mutat; 2007 Feb; 28(2):207-8. PubMed ID: 17221867
[TBL] [Abstract][Full Text] [Related]
8. Family MRX9 revisited: further evidence for locus heterogeneity in MRX.
Winnepenninckx B; Errijgers V; Reyniers E; De Deyn PP; Abidi FE; Schwartz CE; Kooy RF
Am J Med Genet; 2002 Sep; 112(1):17-22. PubMed ID: 12239714
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T; Hamel BC
Clin Genet; 2005 Jun; 67(6):451-67. PubMed ID: 15857409
[TBL] [Abstract][Full Text] [Related]
11. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Yntema HG; van den Helm B; Kissing J; van Duijnhoven G; Poppelaars F; Chelly J; Moraine C; Fryns JP; Hamel BC; Heilbronner H; Pander HJ; Brunner HG; Ropers HH; Cremers FP; van Bokhoven H
Genomics; 1999 Dec; 62(3):332-43. PubMed ID: 10644430
[TBL] [Abstract][Full Text] [Related]
12. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Rejeb I; Ben Jemaa L; Abaied L; Kraoua L; Saillour Y; Maazoul F; Chelly J; Chaabouni H
Eur J Med Genet; 2011; 54(3):241-6. PubMed ID: 21315190
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. [X-linked mental retardation--treatment scheme].
Lisik MZ; Sieroń AL
Wiad Lek; 2008; 61(4-6):146-53. PubMed ID: 18939366
[TBL] [Abstract][Full Text] [Related]
16. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Zemni R; Bienvenu T; Vinet MC; Sefiani A; Carrié A; Billuart P; McDonell N; Couvert P; Francis F; Chafey P; Fauchereau F; Friocourt G; des Portes V; Cardona A; Frints S; Meindl A; Brandau O; Ronce N; Moraine C; van Bokhoven H; Ropers HH; Sudbrak R; Kahn A; Fryns JP; Beldjord C; Chelly J
Nat Genet; 2000 Feb; 24(2):167-70. PubMed ID: 10655063
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Kalscheuer VM; Freude K; Musante L; Jensen LR; Yntema HG; Gécz J; Sefiani A; Hoffmann K; Moser B; Haas S; Gurok U; Haesler S; Aranda B; Nshedjan A; Tzschach A; Hartmann N; Roloff TC; Shoichet S; Hagens O; Tao J; Van Bokhoven H; Turner G; Chelly J; Moraine C; Fryns JP; Nuber U; Hoeltzenbein M; Scharff C; Scherthan H; Lenzner S; Hamel BC; Schweiger S; Ropers HH
Nat Genet; 2003 Dec; 35(4):313-5. PubMed ID: 14634649
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Shoichet SA; Hoffmann K; Menzel C; Trautmann U; Moser B; Hoeltzenbein M; Echenne B; Partington M; Van Bokhoven H; Moraine C; Fryns JP; Chelly J; Rott HD; Ropers HH; Kalscheuer VM
Am J Hum Genet; 2003 Dec; 73(6):1341-54. PubMed ID: 14628291
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
