Literature DB >> 2020553

Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions.

M E Balnaves1, S Nasioulas, H H Dahl, S Forrest.   

Abstract

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Year:  1991        PMID： 2020553      PMCID： PMC333801          DOI： 10.1093/nar/19.5.1155

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  2 in total

1.  Direct PCR from whole blood, without DNA extraction.

Authors:  B Mercier; C Gaucher; O Feugeas; C Mazurier
Journal:  Nucleic Acids Res       Date:  1990-10-11       Impact factor: 16.971

2.  Identification of the cystic fibrosis gene: genetic analysis.

Authors:  B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728
  2 in total
  10 in total

1.  Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.

Authors:  X Liu; D F Barker
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

Review 2.  Molecular biology made easy. The polymerase chain reaction.

Authors:  A M Clarke; N P Mapstone; P Quirke
Journal:  Histochem J       Date:  1992-12

3.  In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk. DiMe (Childhood Diabetes in Finland) Study Group.

Authors:  K A Metcalfe; G A Hitman; M J Fennessy; M I McCarthy; J Tuomilehto; E Tuomilehto-Wolf
Journal:  Diabetologia       Date:  1995-10       Impact factor: 10.122

4.  A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population. Childhood Diabetes in Finland (DiMe) Study Group.

Authors:  M Fennessy; K Metcalfe; G A Hitman; M Niven; P A Biro; J Tuomilehto; E Tuomilehto-Wolf
Journal:  Diabetologia       Date:  1994-09       Impact factor: 10.122

5.  Positive association in the absence of linkage suggests a minor role for the glucokinase gene in the pathogenesis of type 2 (non-insulin-dependent) diabetes mellitus amongst south Indians.

Authors:  M I McCarthy; M Hitchins; G A Hitman; P Cassell; K Hawrami; N Morton; V Mohan; A Ramachandran; C Snehalatha; M Viswanathan
Journal:  Diabetologia       Date:  1993-07       Impact factor: 10.122

6.  Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Authors:  H Rootwelt; E Brodtkorb; E A Kvittingen
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

7.  Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

Authors:  H Rootwelt; R Berger; G Gray; D A Kelly; T Coşkun; E A Kvittingen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

8.  Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.

Authors:  H Rootwelt; T Kristensen; R Berger; K Høie; E A Kvittingen
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

9.  Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

Authors:  H Rootwelt; J Chou; W A Gahl; R Berger; T Coşkun; E Brodtkorb; E A Kvittingen
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

10.  Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE.

Authors:  Jordi Martinez-Serra; Juan Robles; Antoni Nicolàs; Antonio Gutierrez; Teresa Ros; Juan Carlos Amat; Regina Alemany; Oliver Vögler; Aina Abelló; Aina Noguera; Joan Besalduch
Journal:  J Blood Med       Date:  2014-06-25
  10 in total

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