Literature DB >> 15060121

Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay.

Y Zhou, H-Y Law, C D Boehm, C-S Yoon, G R Cutting, I S L Ng, S S Chong.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15060121      PMCID： PMC1735740          DOI： 10.1136/jmg.2003.012716

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  13 in total

Review 1.  Advanced technologies for the molecular diagnosis of fragile X syndrome.

Authors:  Flora Tassone
Journal:  Expert Rev Mol Diagn       Date:  2015-10-21       Impact factor: 5.225

2.  FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

Authors:  David E Godler; Howard R Slater; Quang M Bui; Michele Ono; Freya Gehling; David Francis; David J Amor; John L Hopper; Randi Hagerman; Danuta Z Loesch
Journal:  J Mol Diagn       Date:  2011-06-30       Impact factor: 5.568

3.  An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

Authors:  Liangjing Chen; Andrew Hadd; Sachin Sah; Stela Filipovic-Sadic; Julie Krosting; Edward Sekinger; Ruiqin Pan; Paul J Hagerman; Timothy T Stenzel; Flora Tassone; Gary J Latham
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568

4.  Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

Authors:  Tihomir Todorov; Albena Todorova; Andrey Kirov; Boyan Dimitrov; Ralph Carvalho; Anders O H Nygren; Iliana Boneva; Vanyo Mitev
Journal:  BMJ Case Rep       Date:  2009-05-18

5.  Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Authors:  Sebastien Jacquemont; Stefanie Birnbaum; Silke Redler; Peter Steinbach; Valérie Biancalana
Journal:  Eur J Hum Genet       Date:  2011-05-04       Impact factor: 4.246

6.  Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.

Authors:  Nagarathinam Indhumathi; Deepika Singh; Samuel S Chong; B K Thelma; Ramesh Arabandi; C R Srikumari Srisailpathy
Journal:  Genet Test Mol Biomarkers       Date:  2011-10-24

7.  A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.

Authors:  Stela Filipovic-Sadic; Sachin Sah; Liangjing Chen; Julie Krosting; Edward Sekinger; Wenting Zhang; Paul J Hagerman; Timothy T Stenzel; Andrew G Hadd; Gary J Latham; Flora Tassone
Journal:  Clin Chem       Date:  2010-01-07       Impact factor: 8.327

8.  High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Authors:  Liangjing Chen; Andrew Hadd; Sachin Sah; Jeffrey F Houghton; Stela Filipovic-Sadic; Wenting Zhang; Paul J Hagerman; Flora Tassone; Gary J Latham
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

Review 9.  Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.

Authors:  Indhu-Shree Rajan-Babu; Hai-Yang Law; Chui-Sheun Yoon; Caroline G Lee; Samuel S Chong
Journal:  Expert Rev Mol Med       Date:  2015-05-04       Impact factor: 5.600

10.  Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Elaine Spector; Andrea Behlmann; Kathryn Kronquist; Nancy C Rose; Elaine Lyon; Honey V Reddi
Journal:  Genet Med       Date:  2021-04-01       Impact factor: 8.822
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.