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Items: 1 to 20 of 100

1.

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.

PMID:
12801724
2.

Clinical and molecular contributions to the understanding of X-linked mental retardation.

Stevenson RE, Schwartz CE.

Cytogenet Genome Res. 2002;99(1-4):265-75. Review.

PMID:
12900574
4.

X-linked mental retardation.

Lisik MZ, Sieron AL.

Med Sci Monit. 2008 Nov;14(11):RA221-9. Review.

PMID:
18971887
5.

[X-linked mental retardation--treatment scheme].

Lisik MZ, Sieroń AL.

Wiad Lek. 2008;61(4-6):146-53. Review. Polish.

PMID:
18939366
6.

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. Epub 2003 Nov 23.

PMID:
14634649
7.

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gécz J, Lenzner S, Kalscheuer VM, Ropers HH.

Am J Hum Genet. 2004 Aug;75(2):305-9. Epub 2004 May 25.

8.

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S.

Am J Hum Genet. 2002 Dec;71(6):1450-5. Epub 2002 Nov 8.

9.

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. Epub 2003 Nov 18.

10.

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Rosenberg EH, Almeida LS, Kleefstra T, deGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, deGrauw TJ, Jakobs C, Salomons GS.

Am J Hum Genet. 2004 Jul;75(1):97-105. Epub 2004 May 20.

11.

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

Martínez F, Martínez-Garay I, Oltra S, Moltó MD, Orellana C, Monfort S, Prieto F, Tejada I.

Am J Med Genet A. 2004 Dec 1;131(2):174-8.

PMID:
15526294
12.

X-linked mental retardation: many genes for a complex disorder.

Ropers HH.

Curr Opin Genet Dev. 2006 Jun;16(3):260-9. Epub 2006 May 2. Review.

PMID:
16647850
13.

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 Apr-Jun;48(2):145-52. Epub 2005 Feb 12.

PMID:
16053905
14.

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.

PMID:
17221867
15.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H.

Am J Hum Genet. 2006 Feb;78(2):265-78. Epub 2005 Dec 29. Erratum in: Am J Hum Genet. 2006 May;78(5):897.

16.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MacMillan A, Holden JJ, Gecz J, Stevenson RE, Schwartz CE.

BMC Med Genet. 2005 Apr 25;6:16.

17.

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. Epub 2006 Sep 13.

18.

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

Sismani C, Syrrou M, Christodoulou K, Hamel B, Chelly J, Yntema HG, van Bokhoven H, Tzoufi M, Georgiou I, Patsalis PC.

Am J Med Genet A. 2003 Sep 15;122A(1):46-50.

PMID:
12949971
19.

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.

Nawara M, Klapecki J, Borg K, Jurek M, Moreno S, Tryfon J, Bal J, Chelly J, Mazurczak T.

Am J Med Genet A. 2008 Dec 15;146A(24):3167-72. doi: 10.1002/ajmg.a.32613.

PMID:
19012350
20.

Advances in X-linked mental retardation.

Stevenson RE.

Curr Opin Pediatr. 2005 Dec;17(6):720-4. Review.

PMID:
16282777

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