Literature DB >> 2051460

DMD carrier detection in a female with mosaic Turner's syndrome.

M Baiget1, E Tizzano, V Volpini, E del Rio, T Pérez-Vidal, P Gallano.   

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Year:  1991        PMID： 2051460      PMCID： PMC1016809          DOI： 10.1136/jmg.28.3.209

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


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  3 in total

1.  Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes.

Authors:  A Speer; A W Spiegler; R Hanke; K Grade; U Giertler; J Schieck; S Forrest; K E Davies; R Neumann; R Bollmann
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

2.  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

3.  Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.

Authors:  B T Darras; M Koenig; L M Kunkel; U Francke
Journal:  Am J Med Genet       Date:  1988-03
  3 in total
  2 in total

1.  Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

Authors:  M I Tejada; E Mornet; E Tizzano; M Molina; M Baiget; A Boue
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Authors:  Jonàs Juan-Mateu; Maria José Rodríguez; Andrés Nascimento; Cecilia Jiménez-Mallebrera; Lidia González-Quereda; Eloy Rivas; Carmen Paradas; Marcos Madruga; Pedro Sánchez-Ayaso; Cristina Jou; Laura González-Mera; Francina Munell; Manuel Roig-Quilis; Maria Rabasa; Aurelio Hernández-Lain; Jorge Díaz-Manera; Eduard Gallardo; Jordi Pascual; Edgard Verdura; Jaume Colomer; Montserrat Baiget; Montse Olivé; Pia Gallano
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123
  2 in total

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