Literature DB >> 15173237

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, O Zuffardi.   

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Year:  2004        PMID： 15173237      PMCID： PMC1735795          DOI： 10.1136/jmg.2003.012260

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


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  13 in total

Review 1.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

2.  Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin.

Authors:  Frauke Seehusen; Kirsten Kiel; Stefano Jottini; Peter Wohlsein; Andre Habierski; Katharina Seibel; Tanja Vogel; Henning Urlaub; Martin Kollmar; Wolfgang Baumgärtner; Ulrike Teichmann
Journal:  Genetics       Date:  2016-07-08       Impact factor: 4.562

Review 3.  Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.

Authors:  Jamal-Eddine Bouameur; Bertrand Favre; Luca Borradori
Journal:  J Invest Dermatol       Date:  2013-12-19       Impact factor: 8.551

4.  Targeted inactivation of a developmentally regulated neural plectin isoform (plectin 1c) in mice leads to reduced motor nerve conduction velocity.

Authors:  Peter Fuchs; Michael Zörer; Siegfried Reipert; Günther A Rezniczek; Friedrich Propst; Gernot Walko; Irmgard Fischer; Jan Bauer; Michael W Leschnik; Bernhard Lüscher; Johann G Thalhammer; Hans Lassmann; Gerhard Wiche
Journal:  J Biol Chem       Date:  2009-07-22       Impact factor: 5.157

5.  Reciprocal translocations: a trap for cytogenetists?

Authors:  Roberto Ciccone; Roberto Giorda; Giuliana Gregato; Renzo Guerrini; Sabrina Giglio; Romeo Carrozzo; Maria Clara Bonaglia; Emanuela Priolo; Carmelo Laganà; Romano Tenconi; Mariano Rocchi; Tiziano Pramparo; Orsetta Zuffardi; Elena Rossi
Journal:  Hum Genet       Date:  2005-07-23       Impact factor: 4.132

6.  Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Authors:  Tiziano Pramparo; Salvatore Grosso; Jole Messa; Adriana Zatterale; Maria Clara Bonaglia; Luciana Chessa; Paolo Balestri; Mariano Rocchi; Orsetta Zuffardi; Roberto Giorda
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

7.  Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.

Authors:  Stefania Gimelli; Gianluca Caridi; Silvana Beri; Kyle McCracken; Renata Bocciardi; Paola Zordan; Monica Dagnino; Patrizia Fiorio; Luisa Murer; Elisa Benetti; Orsetta Zuffardi; Roberto Giorda; James M Wells; Giorgio Gimelli; Gian Marco Ghiggeri
Journal:  Hum Mutat       Date:  2010-11-09       Impact factor: 4.878

8.  Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function.

Authors:  Scott D Ryan; Andrew Ferrier; Tadasu Sato; Ryan W O'Meara; Yves De Repentigny; Susan X Jiang; Sheng T Hou; Rashmi Kothary
Journal:  Mol Biol Cell       Date:  2011-12-21       Impact factor: 4.138

9.  The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.

Authors:  Stefania Gimelli; Silvana Beri; Harry A Drabkin; Claudio Gambini; Andrea Gregorio; Patrizia Fiorio; Orsetta Zuffardi; Robert M Gemmill; Roberto Giorda; Giorgio Gimelli
Journal:  Mol Cancer       Date:  2009-07-30       Impact factor: 27.401

10.  Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.

Authors:  Maria Clara Bonaglia; Roberto Giorda; Silvana Beri; Stefania Bigoni; Alberto Sensi; Anna Baroncini; Antonella Capucci; Cristina De Agostini; Rhian Gwilliam; Panos Deloukas; Ian Dunham; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246
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