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Items: 1 to 20 of 111

1.

Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A.

J Genet Couns. 2012 Dec;21(6):752-60. doi: 10.1007/s10897-012-9524-8. Epub 2012 Jul 14. Erratum in: J Genet Couns. 2012 Dec;21(6):985.

PMID:
22797890
2.

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
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

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
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.

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.

Strom CM, Crossley B, Redman JB, Buller A, Quan F, Peng M, McGinnis M, Fenwick RG Jr, Sun W.

Genet Med. 2007 Jan;9(1):46-51.

PMID:
17224689
11.

The behavioral phenotype of FMR1 mutations.

Boyle L, Kaufmann WE.

Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):469-76. doi: 10.1002/ajmg.c.30277. Review.

PMID:
20981777
12.

Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.

Anido A, Carlson LM, Taft L, Sherman SL.

J Genet Couns. 2005 Aug;14(4):295-306.

PMID:
16047092
13.

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Martorell L, Tondo M, Garcia-Fructuoso F, Naudo M, Alegre C, Gamez J, Genov├ęs J, Poo P.

Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18.

PMID:
22903700
14.

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST.

Am J Hum Genet. 2009 Oct;85(4):503-14. doi: 10.1016/j.ajhg.2009.09.007.

15.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM.

Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e.

PMID:
20168238
17.

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

Godler DE, Slater HR, Bui QM, Storey E, Ono MY, Gehling F, Inaba Y, Francis D, Hopper JL, Kinsella G, Amor DJ, Hagerman RJ, Loesch DZ.

Clin Chem. 2012 Mar;58(3):590-8. doi: 10.1373/clinchem.2011.177626. Epub 2012 Jan 10.

18.

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

Tzeng CC, Tsai LP, Hwu WL, Lin SJ, Chao MC, Jong YJ, Chu SY, Chao WC, Lu CL.

Am J Med Genet A. 2005 Feb 15;133A(1):37-43.

PMID:
15637705
19.

Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.

Winarni TI, Utari A, Mundhofir FE, Tong T, Durbin-Johnson B, Faradz SM, Tassone F.

Genet Test Mol Biomarkers. 2012 Mar;16(3):162-6. doi: 10.1089/gtmb.2011.0089. Epub 2011 Oct 11.

20.

An effective strategy of using molecular testing to screen mentally retarded individuals for fragile X syndrome.

Tzeng CC, Lin SJ, Chen YJ, Kuo PL, Jong YJ, Tsai LP, Chen RM.

Diagn Mol Pathol. 2001 Mar;10(1):34-40.

PMID:
11277393

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