Literature DB >> 24840845

A novel noncontiguous duplication in the DMD gene escapes the 'reading-frame rule'.

Luz Berenice López-Hernández1, Benjamín Gómez-Díaz, Eliganty Bahena-Martínez, Teresa Neri-Gómez, Alejandra Camacho-Molina, Luis A Ruano-Calderón, Silvia García, Ramón M Coral-Vázquez.   

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Year:  2014        PMID： 24840845     DOI： 10.1007/s12041-014-0345-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  22 in total

1.  Deletion of exon 16 of the dystrophin gene is not associated with disease.

Authors:  Marianne Schwartz; Morten Dunø; Anne Lise Palle; Thomas Krag; John Vissing
Journal:  Hum Mutat       Date:  2007-02       Impact factor: 4.878

2.  DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Authors:  Olga L Gurvich; Baijayanta Maiti; Robert B Weiss; Gaurav Aggarwal; Michael T Howard; Kevin M Flanigan
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

3.  A fast method for high-quality genomic DNA extraction from whole human blood.

Authors:  S Gustincich; G Manfioletti; G Del Sal; C Schneider; P Carninci
Journal:  Biotechniques       Date:  1991-09       Impact factor: 1.993

4.  Duplications in the DMD gene.

Authors:  S J White; A Aartsma-Rus; K M Flanigan; R B Weiss; A L J Kneppers; T Lalic; A A M Janson; H B Ginjaar; M H Breuning; J T den Dunnen
Journal:  Hum Mutat       Date:  2006-09       Impact factor: 4.878

Review 5.  Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

Authors:  Thomas W Prior; Scott J Bridgeman
Journal:  J Mol Diagn       Date:  2005-08       Impact factor: 5.568

6.  Immunodetection analysis of muscular dystrophies in Mexico.

Authors:  Benjamín Gómez-Díaz; Haydeé Rosas-Vargas; Bladimir Roque-Ramírez; Pedro Meza-Espinoza; Luis A Ruano-Calderón; Francisca Fernández-Valverde; Deyanira Escalante-Bautista; Rosa E Escobar-Cedillo; Laura Sánchez-Chapul; Steven Vargas-Cañas; Luz B López-Hernández; Eliganty Bahena-Martínez; Alexandra B Luna-Angulo; Patricia Canto; Ramón M Coral-Vázquez
Journal:  Muscle Nerve       Date:  2012-03       Impact factor: 3.217

7.  [Genotype-phenotype discordance in a Duchenne muscular dystrophy patient due to a novel mutation: insights into the shock absorber function of dystrophin].

Authors:  Luz B López-Hernández; Dave van Heusden; Marvin A Soriano-Ursúa; Luis Figuera-Villanueva; Norma A Vázquez-Cárdenas; Patricia Canto; Benjamín Gómez-Díaz; Ramón M Coral-Vázquez
Journal:  Rev Neurol       Date:  2011-06-16       Impact factor: 0.870

8.  Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

Authors:  A T J M Helderman-van den Enden; R de Jong; J T den Dunnen; J J Houwing-Duistermaat; A L J Kneppers; H B Ginjaar; M H Breuning; E Bakker
Journal:  Clin Genet       Date:  2009-05       Impact factor: 4.438

9.  Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Authors:  Christel Gentil; France Leturcq; Rabah Ben Yaou; Jean-Claude Kaplan; Pascal Laforet; Isabelle Pénisson-Besnier; Caroline Espil-Taris; Thomas Voit; Luis Garcia; France Piétri-Rouxel
Journal:  Hum Mol Genet       Date:  2012-05-15       Impact factor: 6.150

10.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736
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  1 in total

1.  Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.

Authors:  Luz Berenice López-Hernández; Benjamín Gómez-Díaz; Alexandra Berenice Luna-Angulo; Mónica Anaya-Segura; David John Bunyan; Carolina Zúñiga-Guzman; Rosa Elena Escobar-Cedillo; Bladimir Roque-Ramírez; Luis Angel Ruano-Calderón; Héctor Rangel-Villalobos; Julia Angélica López-Hernández; Francisco Javier Estrada-Mena; Silvia García; Ramón Mauricio Coral-Vázquez
Journal:  Int J Mol Sci       Date:  2015-03-09       Impact factor: 5.923
  1 in total

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