Literature DB >> 21677399

Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR.

Mohammad Taghi Akbari1, Mehrdad Noruzinia, Hossein Mozdarani, Mohammad Hamid.   

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Year:  2011        PMID： 21677399     DOI： 10.1007/s12041-011-0038-1

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  17 in total

1.  SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.

Authors:  H Scheffer; J M Cobben; R G Mensink; R P Stulp; G van der Steege; C H Buys
Journal:  Eur J Hum Genet       Date:  2000-02       Impact factor: 4.246

2.  Evaluation of real-time PCR data.

Authors:  J L Vaerman; P Saussoy; I Ingargiola
Journal:  J Biol Regul Homeost Agents       Date:  2004 Apr-Jun       Impact factor: 1.711

3.  International SMA consortium meeting. (26-28 June 1992, Bonn, Germany).

Authors:  T L Munsat; K E Davies
Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

Authors:  P E McAndrew; D W Parsons; L R Simard; C Rochette; P N Ray; J R Mendell; T W Prior; A H Burghes
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

6.  Classification of spinal muscular atrophies.

Authors:  J Pearn
Journal:  Lancet       Date:  1980-04-26       Impact factor: 79.321

7.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Authors:  Markus Feldkötter; Verena Schwarzer; Radu Wirth; Thomas F Wienker; Brunhilde Wirth
Journal:  Am J Hum Genet       Date:  2001-12-21       Impact factor: 11.025

8.  Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.

Authors:  B Gérard; N Ginet; G Matthijs; P Evrard; C Baumann; F Da Silva; M Gérard-Blanluet; M Mayer; B Grandchamp; J Elion
Journal:  Hum Mutat       Date:  2000-09       Impact factor: 4.878

9.  Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Authors:  Tae-Mi Lee; Sang-Wun Kim; Kwang-Soo Lee; Hyun-Seok Jin; Soo Kyung Koo; Inho Jo; Seongman Kang; Sung-Chul Jung
Journal:  J Korean Med Sci       Date:  2004-12       Impact factor: 2.153

10.  A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.

Authors:  Nadia Passon; Federico Pozzo; Cristiano Molinis; Elisa Bregant; Cinzia Gellera; Giuseppe Damante; Renata I Lonigro
Journal:  Genet Test Mol Biomarkers       Date:  2009-02
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  2 in total

1.  Expression and secretion of fungal endoglucanase II and chimeric cellobiohydrolase I in the oleaginous yeast Lipomyces starkeyi.

Authors:  Qi Xu; Eric P Knoshaug; Wei Wang; Markus Alahuhta; John O Baker; Shihui Yang; Todd Vander Wall; Stephen R Decker; Michael E Himmel; Min Zhang; Hui Wei
Journal:  Microb Cell Fact       Date:  2017-07-24       Impact factor: 5.328

2.  Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.

Authors:  Parastoo Modarres; Somayeh Tanhaei; Marziyeh Tavalaee; Kamran Ghaedi; Mohammad Reza Deemeh; Mohammad Hossein Nasr-Esfahani
Journal:  Int J Fertil Steril       Date:  2016-06-01
  2 in total

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