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Items: 1 to 20 of 91

1.

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

Monaghan KG, Lyon E, Spector EB; erican College of Medical Genetics and Genomics.

Genet Med. 2013 Jul;15(7):575-86. doi: 10.1038/gim.2013.61. Epub 2013 Jun 13.

PMID:
23765048
2.

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
4.

Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.

Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ.

Genet Med. 2001 May-Jun;3(3):200-5. No abstract available.

5.

[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
6.

A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.

Thyagarajan B, Bower M, Berger M, Jones S, Dolan M, Wang X.

Arch Pathol Lab Med. 2008 Jan;132(1):95-8. doi: 10.1043/1543-2165(2008)132[95:ANPITF]2.0.CO;2.

PMID:
18181681
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.

Pilot fragile X screening in normal population of Taiwan.

Tzeng CC, Cho WC, Kuo PL, Chen RM.

Diagn Mol Pathol. 1999 Sep;8(3):152-6.

PMID:
10565687
9.

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Loesch DZ, Sherwell S, Kinsella G, Tassone F, Taylor A, Amor D, Sung S, Evans A.

Clin Genet. 2012 Jul;82(1):88-92. doi: 10.1111/j.1399-0004.2011.01675.x. Epub 2011 Apr 28.

PMID:
21476992
10.

FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.

Tural S, Tekcan A, Kara N, Elbistan M, Güven D, Ali Tasdemir H.

Gynecol Endocrinol. 2015 Mar;31(3):191-5. doi: 10.3109/09513590.2014.975685. Epub 2014 Nov 4.

PMID:
25366135
11.

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
12.
13.

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.

PMID:
23129072
14.

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).

Weck KE, Zehnbauer B, Datto M, Schrijver I; CAP/ACMG Biochemical and Molecular Genetics Resource Committee.

Genet Med. 2012 Mar;14(3):306-12. doi: 10.1038/gim.2011.11. Epub 2012 Jan 5.

PMID:
22241100
15.

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
16.

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

Ferreira SI, Pires LM, Ferrão J, Sá J, Serra A, Carreira IM.

Gene. 2013 Sep 15;527(1):421-5. doi: 10.1016/j.gene.2013.05.079. Epub 2013 Jun 20.

PMID:
23792063
17.

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
18.

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA.

Christofolini DM, Lipay MV, Ramos MA, Brunoni D, Melaragno MI.

Genet Mol Res. 2006 Jul 31;5(3):448-53.

19.

Molecular analysis of fragile X syndrome in Antalya Province.

Bilgen T, Keser I, Mihci E, Haspolat S, Tacoy S, Luleci G.

Indian J Med Sci. 2005 Apr;59(4):150-5.

PMID:
15876779
20.

Molecular diagnosis of Fragile X syndrome.

Sofocleous C, Kolialexi A, Mavrou A.

Expert Rev Mol Diagn. 2009 Jan;9(1):23-30. doi: 10.1586/14737159.9.1.23.

PMID:
19099346

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