Publications by authors named "Laura Anesi"

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An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
Daniela Galla, Paola de Gemmis, Laura Anesi, Silvia Berto, Diego Dolcetta

J Mol Neurosci· June 2013

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Nuclear GSK-3β segregation in desmoid-type fibromatosis.
Cristiana Meneghello, Bouchra Ousghir, Marco Rastrelli, Laura Anesi, Antonio Sommariva

Histopathology· June 2013

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Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.
Laura Anesi, Paola de Gemmis, Daniela Galla, Uros Hladnik

Nephrol Dial Transplant· October 2012

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Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.
Laura Anesi, Paola de Gemmis, Massimo Pandolfo, Uros Hladnik

J Mol Neurosci· March 2011

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Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
Paola de Gemmis, Laura Anesi, Elisa Lorenzetto, Ilenia Gioachini, Elisabetta Fortunati

Mutat Res· October 2010

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Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
Stefano Sartori, Laura Anesi, Roberta Polli, Irene Toldo, Alberto Casarin

J Child Neurol· August 2008

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Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangements.
Alberto Casarin, Maddalena Martella, Roberta Polli, Emanuela Leonardi, Laura Anesi

Mol Diagn Ther· October 2006

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