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Results: 1 to 20 of 211

Similar articles for PubMed (Select 20425835)

1.

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.

Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z.

Am J Med Genet A. 2010 May;152A(5):1273-7. doi: 10.1002/ajmg.a.33352.

PMID:
20425835
2.

The Xp contiguous deletion syndrome and autism.

Shinawi M, Patel A, Panichkul P, Zascavage R, Peters SU, Scaglia F.

Am J Med Genet A. 2009 Jun;149A(6):1138-48. doi: 10.1002/ajmg.a.32833.

PMID:
19441126
3.

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.

Rodriguez-Revenga L, Madrigal I, Badenas C, Xunclà M, Jiménez L, Milà M.

Menopause. 2009 Sep-Oct;16(5):944-9. doi: 10.1097/gme.0b013e3181a06a37.

PMID:
19373114
4.

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL.

Am J Med Genet A. 2007 Jun 15;143A(12):1358-65.

PMID:
17506108
5.

A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.

Holden ST, Clarkson A, Thomas NS, Abbott K, James MR, Willatt L.

Am J Med Genet A. 2010 Jul;152A(7):1735-40. doi: 10.1002/ajmg.a.33457.

PMID:
20578133
6.

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.

Hum Genet. 1997 Aug;100(2):256-61.

PMID:
9254860
7.

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.

Pathol Biol (Paris). 2007 Feb;55(1):29-36. Epub 2006 May 11.

PMID:
16690229
8.

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

Heine-Suñer D, Torres-Juan L, Morlà M, Busquets X, Barceló F, Picó G, Bonilla L, Govea N, Bernués M, Rosell J.

Am J Med Genet A. 2003 Oct 1;122A(2):108-14.

PMID:
12955761
9.

Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.

Martínez R, Bonilla-Henao V, Jiménez A, Lucas M, Vega C, Ramos I, Sobrino F, Pintado E.

Mol Diagn. 2005;9(3):157-62.

PMID:
16271017
10.

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.

Am J Med Genet A. 2006 Mar 15;140(6):604-10.

PMID:
16470742
11.

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Martorell L, Nascimento MT, Colome R, Genovés J, Naudó M, Nascimento A.

J Hum Genet. 2011 Jan;56(1):87-90. doi: 10.1038/jhg.2010.140. Epub 2010 Nov 25.

PMID:
21107340
12.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA.

Hum Mol Genet. 1994 Apr;3(4):615-20.

PMID:
8069307
13.

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.

Spath MA, Nillesen WN, Smits AP, Feuth TB, Braat DD, van Kessel AG, Yntema HG.

Am J Med Genet A. 2010 Feb;152A(2):387-93. doi: 10.1002/ajmg.a.33243.

PMID:
20101683
14.

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.

Miano MG, Laperuta C, Chiurazzi P, D'Urso M, Ursini MV.

BMC Med Genet. 2007 Apr 11;8:18.

15.

Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.

Guo QS, Qin SY, Zhou SF, He L, Ma D, Zhang YP, Xiong Y, Peng T, Cheng Y, Li XT.

Eur J Clin Invest. 2009 Aug;39(8):729-37. doi: 10.1111/j.1365-2362.2009.02141.x. Epub 2009 Jun 5. Erratum in: Eur J Clin Invest. 2009 Dec;39(12):1114.

PMID:
19515099
16.

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW.

Am J Hum Genet. 1995 May;56(5):1042-51.

17.

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11.

Muroya K, Kinoshita E, Kamimaki T, Matsuo N, Yorifugi T, Ogata T.

J Med Genet. 1999 Mar;36(3):187-91.

18.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W.

Nucleic Acids Res. 2000 May 15;28(10):2141-52.

19.

Autism-associated familial microdeletion of Xp11.22.

Qiao Y, Liu X, Harvard C, Hildebrand MJ, Rajcan-Separovic E, Holden JJ, Lewis ME.

Clin Genet. 2008 Aug;74(2):134-44. doi: 10.1111/j.1399-0004.2008.01028.x. Epub 2008 May 21.

PMID:
18498374
20.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
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