Literature DB >> 2277394

Estimate of germinal mosaicism in Duchenne muscular dystrophy.

M R Passos-Bueno, M A Lima, M Zatz.   

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Year:  1990        PMID： 2277394      PMCID： PMC1017271          DOI： 10.1136/jmg.27.11.727

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


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  10 in total

1.  SERUM ENZYME STUDIES IN MUSCLE DISEASE. III. SERUM CREATINE KINASE ACTIVITY IN RELATIVES OF PATIENTS WITH THE DUCHENNE TYPE OF MUSCULAR DYSTROPHY.

Authors:  J M PEARCE; R J PENNINGTON; J N WALTON
Journal:  J Neurol Neurosurg Psychiatry       Date:  1964-06       Impact factor: 10.154

2.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Authors:  E Bakker; H Veenema; J T Den Dunnen; C van Broeckhoven; P M Grootscholten; E J Bonten; G J van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

3.  Biochemical and histopathological studies of the carrier state in Duchenne's muscular dystrophy.

Authors:  V Ionasescu; O Vuia; N Luca; P Popa
Journal:  Confin Neurol       Date:  1968

4.  Serum creatine phosphokinase and pyruvate kinase in neuromuscular disorders and Duchenne dystrophy carriers.

Authors:  A R Seay; F A Ziter; L H Wu; J T Wu
Journal:  Neurology       Date:  1978-10       Impact factor: 9.910

5.  Germinal mosaicism in Duchenne muscular dystrophy.

Authors:  S Wood; B C McGillivray
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

6.  Creatine phosphokinase in neuromuscular disease. Patients and families.

Authors:  I Goto; H A Peters; H H Reese
Journal:  Arch Neurol       Date:  1967-05

7.  Serum creatine phosphokinase in the detection of carriers of Duchenne's muscular dystrophy in Northern Ireland.

Authors:  D McCormick; I V Allen
Journal:  Ulster Med J       Date:  1976

8.  Germline mosaicism and Duchenne muscular dystrophy mutations.

Authors:  E Bakker; C Van Broeckhoven; E J Bonten; M J van de Vooren; H Veenema; W Van Hul; G J Van Ommen; A Vandenberghe; P L Pearson
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

9.  A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.

Authors:  B T Darras; U Francke
Journal:  Nature       Date:  1987 Oct 8-14       Impact factor: 49.962

10.  Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.

Authors:  M Zatz; M R Passos-Bueno; D Rapaport
Journal:  Am J Med Genet       Date:  1989-03
  10 in total
  5 in total

1.  Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates.

Authors:  M R Passos-Bueno; M Zatz
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

2.  High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

Authors:  M Zatz; S K Marie; M R Passos-Bueno; M Vainzof; S Campiotto; A Cerqueira; C Wijmenga; G Padberg; R Frants
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

3.  Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Authors:  K C Sippel; R E Fraioli; G D Smith; M E Schalkoff; J Sutherland; B L Gallie; T P Dryja
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

4.  Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Authors:  A J van Essen; S Abbs; M Baiget; E Bakker; C Boileau; C van Broeckhoven; K Bushby; A Clarke; M Claustres; A E Covone
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

5.  Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.

Authors:  M R Passos-Bueno; E Bakker; A L Kneppers; R I Takata; D Rapaport; J T den Dunnen; M Zatz; G J van Ommen
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025
  5 in total

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