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230 results
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FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
Genot E, Daubon T, Sorrentino V, Buccione R. Genot E, et al. Among authors: sorrentino v. J Cell Sci. 2012 Jul 15;125(Pt 14):3265-70. doi: 10.1242/jcs.093419. Epub 2012 Aug 1. J Cell Sci. 2012. PMID: 22854039
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199. Am J Med Genet A. 2010. PMID: 20082460
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. FEBS Lett. 2000 Aug 4;478(3):216-20. doi: 10.1016/s0014-5793(00)01857-3. FEBS Lett. 2000. PMID: 10930571
Role of triadin in the organization of reticulum membrane at the muscle triad.
Fourest-Lieuvin A, Rendu J, Osseni A, Pernet-Gallay K, Rossi D, Oddoux S, Brocard J, Sorrentino V, Marty I, Fauré J. Fourest-Lieuvin A, et al. Among authors: sorrentino v. J Cell Sci. 2012 Jul 15;125(Pt 14):3443-53. doi: 10.1242/jcs.100958. Epub 2012 Apr 14. J Cell Sci. 2012. PMID: 22505613
Bcl-2 binds to and inhibits ryanodine receptors.
Vervliet T, Decrock E, Molgó J, Sorrentino V, Missiaen L, Leybaert L, De Smedt H, Kasri NN, Parys JB, Bultynck G. Vervliet T, et al. Among authors: sorrentino v. J Cell Sci. 2014 Jun 15;127(Pt 12):2782-92. doi: 10.1242/jcs.150011. Epub 2014 Apr 24. J Cell Sci. 2014. PMID: 24762814
Modulation of calcium signalling by dominant negative splice variant of ryanodine receptor subtype 3 in native smooth muscle cells.
Dabertrand F, Morel JL, Sorrentino V, Mironneau J, Mironneau C, Macrez N. Dabertrand F, et al. Among authors: sorrentino v. Cell Calcium. 2006 Jul;40(1):11-21. doi: 10.1016/j.ceca.2006.03.008. Epub 2006 May 4. Cell Calcium. 2006. PMID: 16678258
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Am J Med Genet A. 2007 Jan 1;143A(1):58-63. doi: 10.1002/ajmg.a.31562. Am J Med Genet A. 2007. PMID: 17152066
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Am J Med Genet A. 2005 May 15;135(1):99-102. doi: 10.1002/ajmg.a.30700. Am J Med Genet A. 2005. PMID: 15809997
SCN1A mutation associated with atypical Panayiotopoulos syndrome.
Grosso S, Orrico A, Galli L, Di Bartolo R, Sorrentino V, Balestri P. Grosso S, et al. Among authors: sorrentino v. Neurology. 2007 Aug 7;69(6):609-11. doi: 10.1212/01.wnl.0000266666.10404.53. Neurology. 2007. PMID: 17679682 No abstract available.
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