Literature DB >> 22150418

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

M Bartoli, P Nègre, N Wein, P Bourgeois, C Pécheux, N Lévy, Martin Krahn.   

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Year:  2012        PMID: 22150418     DOI: 10.1111/j.1399-0004.2011.01708.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  3 in total

1.  Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Authors:  Juliette Nectoux; Rafael de Cid; Sylvain Baulande; France Leturcq; Jon Andoni Urtizberea; Isabelle Penisson-Besnier; Aleksandra Nadaj-Pakleza; Carinne Roudaut; Audrey Criqui; Lucie Orhant; Delphine Peyroulan; Raba Ben Yaou; Isabelle Nelson; Anna Maria Cobo; Marie-Christine Arné-Bes; Emmanuelle Uro-Coste; Patrick Nitschke; Mireille Claustres; Gisèle Bonne; Nicolas Lévy; Jamel Chelly; Isabelle Richard; Mireille Cossée
Journal:  Eur J Hum Genet       Date:  2014-10-29       Impact factor: 4.246

2.  Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.

Authors:  Leah C Kottyan; Benjamin P Davis; Joseph D Sherrill; Kan Liu; Mark Rochman; Kenneth Kaufman; Matthew T Weirauch; Samuel Vaughn; Sara Lazaro; Andrew M Rupert; Mojtaba Kohram; Emily M Stucke; Katherine A Kemme; Albert Magnusen; Hua He; Phillip Dexheimer; Mirna Chehade; Robert A Wood; Robbie D Pesek; Brian P Vickery; David M Fleischer; Robert Lindbad; Hugh A Sampson; Vincent A Mukkada; Phil E Putnam; J Pablo Abonia; Lisa J Martin; John B Harley; Marc E Rothenberg
Journal:  Nat Genet       Date:  2014-07-13       Impact factor: 38.330

3.  Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

Authors:  Teresa Giugliano; Marco Savarese; Arcomaria Garofalo; Esther Picillo; Chiara Fiorillo; Adele D'Amico; Lorenzo Maggi; Lucia Ruggiero; Liliana Vercelli; Francesca Magri; Fabiana Fattori; Annalaura Torella; Manuela Ergoli; Anna Rubegni; Marina Fanin; Olimpia Musumeci; Jan De Bleecker; Lorenzo Peverelli; Maurizio Moggio; Eugenio Mercuri; Antonio Toscano; Marina Mora; Lucio Santoro; Tiziana Mongini; Enrico Bertini; Claudio Bruno; Carlo Minetti; Giacomo Pietro Comi; Filippo Maria Santorelli; Corrado Angelini; Luisa Politano; Giulio Piluso; Vincenzo Nigro
Journal:  Genes (Basel)       Date:  2018-10-26       Impact factor: 4.096

  3 in total

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