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Items: 1 to 20 of 93

1.

Fragile X leads to X chromosome loss: Comments from a cytogeneticist.

Duncan AM.

Am J Med Genet A. 2010 Jul;152A(7):1871; author reply 1872-3. doi: 10.1002/ajmg.a.33459. No abstract available.

PMID:
20583158
2.

Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss.

Dobkin C, Radu G, Ding XH, Brown WT, Nolin SL.

Am J Med Genet A. 2009 Oct;149A(10):2152-7. doi: 10.1002/ajmg.a.33011.

PMID:
19764037
3.

45,X/46,XY mosaicism and fragile X syndrome.

Banes SL, Begleiter ML, Butler MG.

Am J Med Genet A. 2003 Jan 1;116A(1):99-100. No abstract available.

PMID:
12476462
4.

[Clinical and genetic aspects of fragile X mental retardation syndrome].

Islamgulov DV, Karunas AS, Valinurov RG, Khusnutdinova EK.

Zh Nevrol Psikhiatr Im S S Korsakova. 2005;105(8):69-74. Review. Russian. No abstract available.

PMID:
16180508
5.

Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome.

Araújo A, Ramos ES.

Braz J Med Biol Res. 2008 May;41(5):368-72.

6.

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
7.

The Fragile X premutation: new insights and clinical consequences.

Van Esch H.

Eur J Med Genet. 2006 Jan-Feb;49(1):1-8. Epub 2005 Dec 5. Review.

PMID:
16473304
8.

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.

9.

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
10.

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia.

Alkhayyat H, Christesen HB, Steer J, Stewart H, Brusgaard K, Hussain K.

J Pediatr Endocrinol Metab. 2006 Dec;19(12):1451-7.

PMID:
17252699
11.

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
12.

A small and active ring X chromosome in a female with features of Kabuki syndrome.

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML.

Am J Med Genet A. 2008 Nov 1;146A(21):2816-21. doi: 10.1002/ajmg.a.32521.

PMID:
18925662
13.

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
14.

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
15.

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
16.

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG.

Ann Neurol. 2005 Jan;57(1):144-7.

PMID:
15622531
17.

Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure.

Al-Hinti JT, Nagan N, Harik SI.

Alzheimer Dis Assoc Disord. 2007 Jul-Sep;21(3):262-4.

PMID:
17804960
18.

Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus.

Wilkin H, Tuohy J, Theewis W.

Prenat Diagn. 2000 Oct;20(10):854-5. No abstract available.

PMID:
11038471
19.

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
20.

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.

Cavani S, Prontera P, Grasso M, Ardisia C, Malacarne M, Gradassi C, Cecconi M, Mencarelli A, Donti E, Pierluigi M.

Am J Med Genet A. 2011 Jan;155A(1):221-4. doi: 10.1002/ajmg.a.33515. Epub 2010 Dec 10. No abstract available.

PMID:
21204236
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