Publications by authors named "G Restagno"

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Inferring biallelism of two FSH receptor mutations associated with spontaneous ovarian hyperstimulation syndrome by evaluating FSH, LH and HCG cross-activity.
Clara Lazzaretti, Laura Riccetti, Samantha Sperduti, Claudia Anzivino, Giulia Brigante, Gabriella Restagno

Reprod Biomed Online· May 2019

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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
E Di Gregorio, E Riberi, E F Belligni, E Biamino, M Spielmann, G Restagno

Clin Genet· October 2017

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A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
Fabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, Enrico Grosso, Patrizia Pappi

Eur J Med Genet· April 2017

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Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
G De Marco, A Lomartire, A Calvo, A Risso, E De Luca, G Restagno

Neuropathol Appl Neurobiol· February 2017

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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Christian Lunetta, Gabriella Restagno

Neurobiol Aging· March 2016

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