Literature DB >> 2563578

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy.

R G Roberts1, C G Cole, K A Hart, M Bobrow, D R Bentley.   

Abstract

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Year:  1989        PMID： 2563578      PMCID： PMC331635          DOI： 10.1093/nar/17.2.811

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


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  3 in total

1.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

2.  Prenatal testing for Duchenne and Becker muscular dystrophy.

Authors:  C G Cole; A Walker; A Coyne; L Johnson; K A Hart; S Hodgson; R Sheridan; M Bobrow
Journal:  Lancet       Date:  1988-02-06       Impact factor: 79.321

3.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors:  L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962
  3 in total
  12 in total

1.  A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.

Authors:  S Abbs; S C Yau; S Clark; C G Mathew; M Bobrow
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

Review 2.  Improved diagnosis of Duchenne/Becker muscular dystrophy.

Authors:  A H Beggs; L M Kunkel
Journal:  J Clin Invest       Date:  1990-03       Impact factor: 14.808

Review 3.  Application of the polymerase chain reaction to the diagnosis of human genetic disease.

Authors:  J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  Detection of novel genetic markers by mismatch analysis.

Authors:  R G Roberts; A J Montandon; M Bobrow; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-08-11       Impact factor: 16.971

5.  Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.

Authors:  A H Beggs; M Koenig; F M Boyce; L M Kunkel
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

6.  Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

Authors:  S C Yau; M Bobrow; C G Mathew; S J Abbs
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

7.  Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.

Authors:  L Florentin; C Bili; K Kekou; N Tripodis; A Mavrou; C Metaxotou
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

8.  Prenatal deletion detection in a sporadic case of Duchenne muscular dystrophy without genotype information from the affected individual.

Authors:  F Peinemann; M Wagner; U Franke; M Kulle; J Reiss
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

9.  Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.

Authors:  S Niemann-Seyde; R Slomski; F Rininsland; U Ellermeyer; J Kwiatkowska; J Reiss
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

10.  Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

Authors:  R Slomski; I Braulke; C Behrend; E Schröder; J P Colombo; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132
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