Literature DB >> 12673664

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

Anthonie J van Essen, Inge M Mulder, Pieter van der Vlies, Annemarie H van der Hout, Charles H C M Buys, Robert M W Hofstra, Johan T den Dunnen.   

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Year:  2003        PMID： 12673664     DOI： 10.1002/ajmg.a.10056

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

1.  The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.

Authors:  Veronica Ferreiro; Florencia Giliberto; Liliana Francipane; Irene Szijan
Journal:  Mol Diagn       Date:  2005

2.  Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene.

Authors:  Verónica Ferreiro; Irene Szijan; Florencia Giliberto
Journal:  Mol Diagn       Date:  2004

3.  Clinical and genetic characterization of manifesting carriers of DMD mutations.

Authors:  Payam Soltanzadeh; Michael J Friez; Diane Dunn; Andrew von Niederhausern; Olga L Gurvich; Kathryn J Swoboda; Jacinda B Sampson; Alan Pestronk; Anne M Connolly; Julaine M Florence; Richard S Finkel; Carsten G Bönnemann; Livija Medne; Jerry R Mendell; Katherine D Mathews; Brenda L Wong; Michael D Sussman; Jonathan Zonana; Karen Kovak; Sidney M Gospe; Eduard Gappmaier; Laura E Taylor; Michael T Howard; Robert B Weiss; Kevin M Flanigan
Journal:  Neuromuscul Disord       Date:  2010-07-13       Impact factor: 4.296

4.  Microarray-based mutation detection in the dystrophin gene.

Authors:  Madhuri R Hegde; Ephrem L H Chin; Jennifer G Mulle; David T Okou; Stephen T Warren; Michael E Zwick
Journal:  Hum Mutat       Date:  2008-09       Impact factor: 4.878

5.  Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Authors:  Sandra Donkervoort; Ying Hu; Tanya Stojkovic; Nicol C Voermans; A Reghan Foley; Meganne E Leach; Jahannaz Dastgir; Véronique Bolduc; Thomas Cullup; Alix de Becdelièvre; Lin Yang; Hai Su; Katherine Meilleur; Alice B Schindler; Erik-Jan Kamsteeg; Pascale Richard; Russell J Butterfield; Thomas L Winder; Thomas O Crawford; Robert B Weiss; Francesco Muntoni; Valérie Allamand; Carsten G Bönnemann
Journal:  Hum Mutat       Date:  2015-01       Impact factor: 4.878

6.  Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model.

Authors:  Candice Brinkmeyer-Langford; Joe N Kornegay
Journal:  Curr Genomics       Date:  2013-08       Impact factor: 2.236

7.  A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Authors:  Barbara Zapała; Teresa Płatek; Iwona Wybrańska
Journal:  Ann Hum Genet       Date:  2015-03-16       Impact factor: 1.670

8.  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
  8 in total

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