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Items: 1 to 20 of 193

1.

Arithmetic difficulties in females with the fragile X premutation.

Lachiewicz AM, Dawson DV, Spiridigliozzi GA, McConkie-Rosell A.

Am J Med Genet A. 2006 Apr 1;140(7):665-72.

PMID:
16508954
2.

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M.

Am J Hum Genet. 2001 Aug;69(2):351-60. Epub 2001 Jul 6.

3.

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.

Kogan CS, Turk J, Hagerman RJ, Cornish KM.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):859-72. doi: 10.1002/ajmg.b.30685.

PMID:
18165971
4.
5.

Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation.

Kallinen J, Heinonen S, Mannermaa A, Ryynänen M.

Clin Genet. 2000 Aug;58(2):111-5.

PMID:
11005143
6.

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.

Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S.

Obstet Gynecol. 2008 Mar;111(3):596-601. doi: 10.1097/AOG.0b013e318163be0b.

PMID:
18310361
7.

Cognitive-behavioral profiles of females with the fragile X mutation.

Fisch GS.

Am J Med Genet A. 2006 Apr 1;140(7):673-7.

PMID:
16477608
8.

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
9.

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.

Farzin F, Perry H, Hessl D, Loesch D, Cohen J, Bacalman S, Gane L, Tassone F, Hagerman P, Hagerman R.

J Dev Behav Pediatr. 2006 Apr;27(2 Suppl):S137-44.

PMID:
16685180
10.

Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study.

Rohr J, Allen EG, Charen K, Giles J, He W, Dominguez C, Sherman SL.

Hum Reprod. 2008 May;23(5):1220-5. doi: 10.1093/humrep/den050. Epub 2008 Mar 1.

11.

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

Nolin SL, Glicksman A, Ding X, Ersalesi N, Brown WT, Sherman SL, Dobkin C.

Prenat Diagn. 2011 Oct;31(10):925-31. doi: 10.1002/pd.2815. Epub 2011 Jun 30.

PMID:
21717484
12.

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
13.

Premature ovarian failure: a phenotypic expression of fragile X premutation.

Holoch K, Stein Q, Flanagan J, Hansen K.

S D Med. 2008 Jan;61(1):13, 15.

PMID:
18323308
14.

ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome.

American College of Obstetricians and Gynecologists Committee on Genetics.

Obstet Gynecol. 2010 Oct;116(4):1008-10. doi: 10.1097/AOG.0b013e3181fae884.

PMID:
20859177
15.

Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

Lachiewicz A, Dawson D, Spiridigliozzi G, Cuccaro M, Lachiewicz M, McConkie-Rosell A.

J Intellect Disabil Res. 2010 Jul;54(7):597-610. doi: 10.1111/j.1365-2788.2010.01290.x.

PMID:
20629912
16.

Premature ovarian failure and FMR1 gene mutations: an update.

Conway GS.

Ann Endocrinol (Paris). 2010 May;71(3):215-7. doi: 10.1016/j.ando.2010.02.009. Epub 2010 Apr 15.

PMID:
20398889
17.

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.

Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI.

Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70. doi: 10.1002/ajmg.b.30803.

PMID:
18563710
18.

A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

Dahl C, Grønskov K, Larsen LA, Guldberg P, Brøndum-Nielsen K.

Clin Chem. 2007 Apr;53(4):790-3. Epub 2007 Jan 26.

19.

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome.

Tejada MI, García-Alegría E, Bilbao A, Martínez-Bouzas C, Beristain E, Poch M, Ramos-Arroyo MA, López B, Fernandez Carvajal I, Ribate MP, Ramos F.

Menopause. 2008 Sep-Oct;15(5):945-9. doi: 10.1097/gme.0b013e3181647762.

PMID:
18427356
20.

Mosaicism for an FMR1 gene deletion in a fragile X female.

Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA.

Am J Med Genet A. 2005 Jul 15;136(2):214-7.

PMID:
15940701
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