Literature DB >> 28000110

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy.

Malavika Hebbar1, Tanya Chandra2, Anju Shukla1, Rajagopal Kadavigere3, Katta M Girisha4.   

Abstract

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Year:  2016        PMID： 28000110     DOI： 10.1007/s12098-016-2279-8

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

Authors:  S Lucioli; B Giusti; E Mercuri; O Camacho Vanegas; L Lucarini; V Pietroni; A Urtizberea; R Ben Yaou; M de Visser; A J van der Kooi; C Bönnemann; S T Iannaccone; L Merlini; K Bushby; F Muntoni; E Bertini; M-L Chu; G Pepe
Journal:  Neurology       Date:  2005-06-14       Impact factor: 9.910

2.  Natural history of Ullrich congenital muscular dystrophy.

Authors:  A Nadeau; M Kinali; M Main; C Jimenez-Mallebrera; A Aloysius; E Clement; B North; A Y Manzur; S A Robb; E Mercuri; F Muntoni
Journal:  Neurology       Date:  2009-07-07       Impact factor: 9.910

3.  Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

Authors:  Betti Giusti; Laura Lucarini; Valentina Pietroni; Simona Lucioli; Brunella Bandinelli; Patrizia Sabatelli; Stefano Squarzoni; Stefania Petrini; Corine Gartioux; Beril Talim; Filip Roelens; Luciano Merlini; Haluk Topaloglu; Enrico Bertini; Pascale Guicheney; Guglielmina Pepe
Journal:  Ann Neurol       Date:  2005-09       Impact factor: 10.422

4.  Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Authors:  A K Lampe; D M Dunn; A C von Niederhausern; C Hamil; A Aoyagi; S H Laval; S K Marie; M-L Chu; K Swoboda; F Muntoni; C G Bonnemann; K M Flanigan; K M D Bushby; R B Weiss
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

5.  Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

Authors:  Debbie Hicks; Golara Torabi Farsani; Steven Laval; James Collins; Anna Sarkozy; Elena Martoni; Ashoke Shah; Yaqun Zou; Manuel Koch; Carsten G Bönnemann; Mark Roberts; Hanns Lochmüller; Kate Bushby; Volker Straub
Journal:  Hum Mol Genet       Date:  2013-12-13       Impact factor: 6.150
  5 in total
  1 in total

1.  KDM3A and KDM4C Regulate Mesenchymal Stromal Cell Senescence and Bone Aging via Condensin-mediated Heterochromatin Reorganization.

Authors:  Biao Huang; Bin Wang; Wayne Yuk-Wai Lee; Kin Pong U; Kam Tong Leung; Xican Li; Zhenqing Liu; Rui Chen; Jia Cheng Lin; Lai Ling Tsang; Baohua Liu; Ye Chun Ruan; Hsiao Chang Chan; Gang Li; Xiaohua Jiang
Journal:  iScience       Date:  2019-10-24
  1 in total

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