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Results: 1 to 20 of 105

1.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J.

Am J Hum Genet. 2008 Feb;82(2):432-43. doi: 10.1016/j.ajhg.2007.11.002. Epub 2008 Jan 24.

PMID:
18252223
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P.

Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.

PMID:
22840365
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A.

Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28.

PMID:
20664630
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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. doi: 10.1038/jhg.2010.74. Epub 2010 Jul 8.

PMID:
20613765
[PubMed - indexed for MEDLINE]
5.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE.

Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552.

PMID:
20029458
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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 Nov-Dec;50(6):399-410. Epub 2007 Sep 29.

PMID:
17980689
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
15154114
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M.

BMC Genomics. 2007 Nov 29;8:443.

PMID:
18047645
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

Zhang L, Jie C, Obie C, Abidi F, Schwartz CE, Stevenson RE, Valle D, Wang T.

Genome Res. 2007 May;17(5):641-8. Epub 2007 Apr 6.

PMID:
17416750
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
14628291
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

Bauters M, Van Esch H, Marynen P, Froyen G.

Eur J Med Genet. 2005 Jul-Sep;48(3):263-75.

PMID:
16179222
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
15850492
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.

Am J Hum Genet. 2005 Sep;77(3):442-53. Epub 2005 Jul 29.

PMID:
16080119
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Does the HSD17B10 gene escape from X-inactivation?

He XY, Dobkin C, Yang SY.

Eur J Hum Genet. 2011 Feb;19(2):123-4; author reply 124. doi: 10.1038/ejhg.2010.192. Epub 2010 Nov 17. No abstract available.

PMID:
21081971
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Tejada MI, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA.

Pediatrics. 2011 Oct;128(4):e1029-33. doi: 10.1542/peds.2010-0388. Epub 2011 Sep 19.

PMID:
21930553
[PubMed - indexed for MEDLINE]
Free Article
16.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

PMID:
18985075
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M.

Am J Hum Genet. 2007 Feb;80(2):345-52. Epub 2007 Jan 4.

PMID:
17236139
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H, Bongers EM.

Am J Med Genet A. 2009 Feb 15;149A(4):760-6. doi: 10.1002/ajmg.a.32742.

PMID:
19291773
[PubMed - indexed for MEDLINE]
20.

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

Nascimento RM, Otto PA, de Brouwer AP, Vianna-Morgante AM.

Am J Hum Genet. 2006 Sep;79(3):549-55. Epub 2006 Jul 3.

PMID:
16909393
[PubMed - indexed for MEDLINE]
Free PMC Article

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