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Results: 1 to 20 of 482

1.

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.

McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ.

J Genet Couns. 2005 Aug;14(4):249-70.

PMID:
16047089
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

An assessment of screening strategies for fragile X syndrome in the UK.

Pembrey ME, Barnicoat AJ, Carmichael B, Bobrow M, Turner G.

Health Technol Assess. 2001;5(7):1-95. Review.

PMID:
11262423
[PubMed - indexed for MEDLINE]
Free Article
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
11443541
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Prenatal carrier testing for fragile X: counseling issues and challenges.

Musci TJ, Moyer K.

Obstet Gynecol Clin North Am. 2010 Mar;37(1):61-70, Table of Contents. doi: 10.1016/j.ogc.2010.03.004.

PMID:
20494258
[PubMed - indexed for MEDLINE]
7.

Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.

Laurino MY, Bennett RL, Saraiya DS, Baumeister L, Doyle DL, Leppig K, Pettersen B, Resta R, Shields L, Uhrich S, Varga EA, Raskind WH.

J Genet Couns. 2005 Jun;14(3):165-81.

PMID:
15959648
[PubMed - indexed for MEDLINE]
8.

The FMR1 premutation and reproduction.

Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM.

Fertil Steril. 2007 Mar;87(3):456-65. Epub 2006 Oct 30. Review.

PMID:
17074338
[PubMed - indexed for MEDLINE]
9.

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Bennett RL, Hart KA, O'Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, Thadhani R.

J Genet Couns. 2002 Apr;11(2):121-46.

PMID:
12735292
[PubMed - indexed for MEDLINE]
10.

Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Langfelder-Schwind E, Kloza E, Sugarman E, Pettersen B, Brown T, Jensen K, Marcus S, Redman J; National Society of Genetic Counselors Subcommittee on Cystic Fibrosis Carrier Testing.

J Genet Couns. 2005 Feb;14(1):1-15.

PMID:
15789152
[PubMed - indexed for MEDLINE]
11.

[Neurodevelopmental (fragile X syndrome) and neurodegenerative (tremor/ataxia syndrome) disorders associated to the 'growth' of a gene].

Castro-Volio I, Cuenca-Berger P.

Rev Neurol. 2005 Apr 1-15;40(7):431-7. Review. Spanish.

PMID:
15849678
[PubMed - indexed for MEDLINE]
Free Article
12.

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.

Mandel JL, Biancalana V.

Growth Horm IGF Res. 2004 Jun;14 Suppl A:S158-65. Review.

PMID:
15135801
[PubMed - indexed for MEDLINE]
13.

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

Adams JS, Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, DeCarli C, Hagerman PJ, Hagerman RJ.

Neurology. 2007 Aug 28;69(9):851-9.

PMID:
17724287
[PubMed - indexed for MEDLINE]
14.

Fragile X syndrome (review).

Pimentel MM.

Int J Mol Med. 1999 Jun;3(6):639-45. Review.

PMID:
10341296
[PubMed - indexed for MEDLINE]
15.

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G.

J Genet Couns. 2007 Aug;16(4):387-407. Epub 2007 Jul 17. Review.

PMID:
17636453
[PubMed - indexed for MEDLINE]
16.

Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.

McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ.

J Genet Couns. 2007 Oct;16(5):593-606. Epub 2007 May 12.

PMID:
17497108
[PubMed - indexed for MEDLINE]
17.

The fragile X premutation: into the phenotypic fold.

Hagerman RJ, Hagerman PJ.

Curr Opin Genet Dev. 2002 Jun;12(3):278-83. Review.

PMID:
12076670
[PubMed - indexed for MEDLINE]
18.

The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Willemsen R, Oostra BA.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):782-98. doi: 10.1002/ajmg.b.30910. Review.

PMID:
19105204
[PubMed - indexed for MEDLINE]
19.

The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.

Moore CJ, Daly EM, Tassone F, Tysoe C, Schmitz N, Ng V, Chitnis X, McGuire P, Suckling J, Davies KE, Hagerman RJ, Hagerman PJ, Murphy KC, Murphy DG.

Brain. 2004 Dec;127(Pt 12):2672-81. Epub 2004 Oct 13.

PMID:
15483045
[PubMed - indexed for MEDLINE]
Free Article
20.

[Abnormal function of ovaries in women carriers of premutation in the FMR1 gene].

Lisik MZ.

Wiad Lek. 2007;60(5-6):265-9. Review. Polish.

PMID:
17966892
[PubMed - indexed for MEDLINE]

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