Hantash FM - Search Results

1

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. Hantash FM, et al. Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e. Genet Med. 2010. PMID: 20168238 Free article.

2

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.

Buller A, Olson S, Redman JB, Hantash F, Chen R, Strom CM. Buller A, et al. Genet Med. 2004 Mar-Apr;6(2):108-9. doi: 10.1097/01.gim.0000117332.18002.ff. Genet Med. 2004. PMID: 15017334 Free article.

3

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Hantash FM, Redman JB, Starn K, Anderson B, Buller A, McGinniss MJ, Quan F, Peng M, Sun W, Strom CM. Hantash FM, et al. Hum Genet. 2006 Mar;119(1-2):126-36. doi: 10.1007/s00439-005-0082-0. Epub 2005 Dec 17. Hum Genet. 2006. PMID: 16362824

4

A large deletion in the CFTR gene in CBAVD.

Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM. Hantash FM, et al. Genet Med. 2006 Feb;8(2):93-5. doi: 10.1097/01.gim.0000200945.54234.d7. Genet Med. 2006. PMID: 16481891 Free article.

5

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.

Strom CM, Huang D, Li Y, Hantash FM, Rooke J, Potts SJ, Sun W. Strom CM, et al. Among authors: hantash fm. Genet Med. 2007 Apr;9(4):199-207. doi: 10.1097/gim.0b013e31803d3ac9. Genet Med. 2007. PMID: 17438383

6

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.

Hantash FM, Goos DM, Crossley B, Anderson B, Zhang K, Sun W, Strom CM. Hantash FM, et al. Genet Med. 2011 Jan;13(1):39-45. doi: 10.1097/GIM.0b013e3181fa9fad. Genet Med. 2011. PMID: 21116185 Free article.

7

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, Quan F, Anguiano A, Huang S, Hantash F, Strom C. Sun W, et al. Genet Med. 2006 Jun;8(6):339-45. doi: 10.1097/01.gim.0000223549.57443.16. Genet Med. 2006. PMID: 16778595 Free article.

8

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM. McGinniss MJ, et al. Among authors: hantash fm. Hum Genet. 2005 Dec;118(3-4):331-8. doi: 10.1007/s00439-005-0065-1. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189704

9

Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

Hantash FM, Olson SC, Anderson B, Buller A, Chen R, Crossly B, Sun W, Strom CM. Hantash FM, et al. J Mol Diagn. 2006 May;8(2):282-7. doi: 10.2353/jmoldx.2006.050026. J Mol Diagn. 2006. PMID: 16645217 Free PMC article.

10

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.

Hantash FM, Redman JB, Goos D, Kammesheidt A, McGinniss MJ, Sun W, Strom CM. Hantash FM, et al. J Mol Diagn. 2007 Sep;9(4):556-60. doi: 10.2353/jmoldx.2007.060141. Epub 2007 Aug 9. J Mol Diagn. 2007. PMID: 17690208 Free PMC article.

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