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Items: 17

1.

Newborn screening and cascade testing for FMR1 mutations.

Sorensen PL, Gane LW, Yarborough M, Hagerman RJ, Tassone F.

Am J Med Genet A. 2013 Jan;161A(1):59-69. doi: 10.1002/ajmg.a.35680. Epub 2012 Dec 13.

2.

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.

3.

Newborn screening for fragile X syndrome.

Tassone F.

JAMA Neurol. 2014 Mar;71(3):355-9. doi: 10.1001/jamaneurol.2013.4808. Review.

4.

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.

5.

Fragile X syndrome.

Welch JL, Williams JK.

Neonatal Netw. 1999 Sep;18(6):15-22. Review.

PMID:
10690095
6.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.

7.

Health supervision for children with fragile X syndrome.

Hersh JH, Saul RA; Committee on Genetics.

Pediatrics. 2011 May;127(5):994-1006. doi: 10.1542/peds.2010-3500. Epub 2011 Apr 25. Review.

PMID:
21518720
8.

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
9.

[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
10.

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

Hagerman RJ.

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

PMID:
16511373
11.

[New discoveries about the fragile X syndrome complicate genetic counseling. More symptoms than earlier known caused by the disease gene].

Kristoffersson U, Wahlström J, Lynöe N.

Lakartidningen. 2005 Oct 31-Nov 6;102(44):3232-4, 3236. Review. Swedish.

PMID:
16329454
12.

[Screening for fragile X syndrome. International experiences].

Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K.

Ugeskr Laeger. 2006 Oct 23;168(43):3704-9. Review. Danish.

PMID:
17069733
13.

[Molecular biology of fragile X syndrome: recent data and diagnostic applications].

Mornet E, Simon-Bouy B.

Arch Pediatr. 1996 Aug;3(8):814-21. Review. French.

PMID:
8998538
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.

[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
16.

The fragile X syndrome.

de Vries BB, Halley DJ, Oostra BA, Niermeijer MF.

J Med Genet. 1998 Jul;35(7):579-89. Review.

17.

Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues.

Bailey DB Jr, Skinner D, Davis AM, Whitmarsh I, Powell C.

Pediatrics. 2008 Mar;121(3):e693-704. doi: 10.1542/peds.2007-0820. Review.

PMID:
18310190
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