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Results: 1 to 20 of 126

Related Articles by Review for PubMed (Select 16047089)

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
2.

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.

3.

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
4.
5.

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
6.

Fragile X syndrome (review).

Pimentel MM.

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

PMID:
10341296
7.

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
8.

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
9.

[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
10.
11.

Fragile X and reproduction.

Martin JR, Arici A.

Curr Opin Obstet Gynecol. 2008 Jun;20(3):216-20. doi: 10.1097/GCO.0b013e3282fe7254. Review.

PMID:
18460934
12.

Newborn, carrier, and early childhood screening recommendations for fragile X.

Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E.

Pediatrics. 2012 Dec;130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5. Review.

13.

[Neurological signs in the adult with fragile-X premutation].

Cabanyes-Truffino J.

Neurologia. 2010 May;25(4):222-7. Review. Spanish.

14.

The fragile X syndrome: implications of molecular genetics for the clinical syndrome.

Rousseau F.

Eur J Clin Invest. 1994 Jan;24(1):1-10. Review.

PMID:
8187801
15.

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.

Hagerman RJ.

J Dev Behav Pediatr. 2006 Feb;27(1):63-74. Review.

PMID:
16511373
16.

[Diagnostic testing in fragile X syndrome].

Sireteanu A, Rusu C.

Rev Med Chir Soc Med Nat Iasi. 2006 Oct-Dec;110(4):968-71. Review. Romanian.

PMID:
17438909
17.

Molecular diagnosis and genetic counseling for fragile X mental retardation.

Pandey UB, Phadke SR, Mittal B.

Neurol India. 2004 Mar;52(1):36-42. Review.

18.

Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.

Adams SA, Steenblock KJ, Thibodeau SN, Lindor NM.

J Neurogenet. 2008 Jan-Mar;22(1):77-92. doi: 10.1080/01677060701686242. Review.

PMID:
18363164
19.

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
20.

Fragile X syndrome.

Terracciano A, Chiurazzi P, Neri G.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. Review.

PMID:
16010677
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