Literature DB >> 1968908

Improved diagnosis of Duchenne/Becker muscular dystrophy.

A H Beggs1, L M Kunkel.   

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Year:  1990        PMID： 1968908      PMCID： PMC296473          DOI： 10.1172/JCI114482

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  41 in total

1.  Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin.

Authors:  R G Hammonds
Journal:  Cell       Date:  1987-10-09       Impact factor: 41.582

2.  Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.

Authors:  K H Fischbeck; A W Ritter; D L Tirschwell; L M Kunkel; C J Bertelson; A P Monaco; J F Hejtmancik; C Boehm; V Ionasescu; R Ionasescu
Journal:  Lancet       Date:  1986-07-12       Impact factor: 79.321

3.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors:  P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal:  Nature       Date:  1985 Dec 19-1986 Jan 1       Impact factor: 49.962

4.  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

5.  A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

Authors:  A H Burghes; C Logan; X Hu; B Belfall; R G Worton; P N Ray
Journal:  Nature       Date:  1987 Jul 30-Aug 5       Impact factor: 49.962

6.  Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.

Authors:  H M Kingston; M Sarfarazi; N S Thomas; P S Harper
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

8.  The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Authors:  M Koenig; A H Beggs; M Moyer; S Scherpf; K Heindrich; T Bettecken; G Meng; C R Müller; M Lindlöf; H Kaariainen; A de la Chapellet; A Kiuru; M L Savontaus; H Gilgenkrantz; D Récan; J Chelly; J C Kaplan; A E Covone; N Archidiacono; G Romeo; S Liechti-Gailati; V Schneider; S Braga; H Moser; B T Darras; P Murphy; U Francke; J D Chen; G Morgan; M Denton; C R Greenberg; K Wrogemann; L A Blonden; M B van Paassen; G J van Ommen; L M Kunkel
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

9.  Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.

Authors:  Y Boyd; V J Buckle
Journal:  Clin Genet       Date:  1986-02       Impact factor: 4.438

10.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors:  A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal:  Nature       Date:  1985 Aug 29-Sep 4       Impact factor: 49.962
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  18 in total

Review 1.  Molecular biology of neurological diseases.

Authors:  W J Cumming
Journal:  Postgrad Med J       Date:  1992-04       Impact factor: 2.401

2.  Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

Authors:  M N Kuppuswamy; J W Hoffmann; C K Kasper; S G Spitzer; S L Groce; S P Bajaj
Journal:  Proc Natl Acad Sci U S A       Date:  1991-02-15       Impact factor: 11.205

Review 3.  Adenovirus-mediated gene transfer into striated muscles.

Authors:  G Acsadi; B Massie; A Jani
Journal:  J Mol Med (Berl)       Date:  1995-04       Impact factor: 4.599

Review 4.  The DNA laboratory and neurological practice.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-03       Impact factor: 10.154

Review 5.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

6.  Brain- and muscle-type promoters of the dystrophin gene are selected in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid [correction of lymphoplastoid] cells.

Authors:  H Nishio; M Matsuo; Y Kitoh; N Narita; M Shimmoto; Y Suzuki; H Nakamura
Journal:  J Neurol       Date:  1993-12       Impact factor: 4.849

7.  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

8.  Abnormal dystrophin expression in patients with limb girdle syndromes.

Authors:  S Beyenburg; S Zierz; K Arahata; R R Mundegar; W Friedl; F Jerusalem
Journal:  J Neurol       Date:  1994-02       Impact factor: 4.849

9.  Rapid prenatal diagnosis of trisomy 21 by real-time quantitative polymerase chain reaction with amplification of small tandem repeats and S100B in chromosome 21.

Authors:  Young Ho Yang; Mi Suk Nam; Eun Suk Yang
Journal:  Yonsei Med J       Date:  2005-04-30       Impact factor: 2.759

10.  Deletion mutations in Duchenne muscular dystrophy (DMD) in Western Saudi children.

Authors:  Mohammed T Tayeb
Journal:  Saudi J Biol Sci       Date:  2010-04-13       Impact factor: 4.219
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