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Neurogenetics|March 3, 2011
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletionAntonio Pizzuti, Irene Bottillo, Francesca Inzana, et al.
BMC Medical Genetics|February 14, 2007
Functional analysis of splicing mutations in exon 7 of NF1 geneIrene Bottillo, Alessandro De Luca, Annalisa Schirinzi, et al.
Disease Markers|November 25, 2006
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutationsMonia Magliozzi, Maria Piane, Isabella Torrente, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cellsGioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society|January 12, 2011
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenitaAnna Modoni, Adele D'Amico, Bruno Dallapiccola, et al.
Human Mutation|May 18, 2004
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca, Annalisa Schirinzi, Anna Buccino, et al.
European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.
Stem Cell Research|June 27, 2022
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) geneAlessia Casamassa, Alessandra Zanetti, Daniela Ferrari, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 17, 2013
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteriaMiryam Carecchio, Monia Magliozzi, Massimiliano Copetti, et al.
Stem Cell Research|January 13, 2023
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) geneGiovannina Rotundo, Elisa Maria Turco, Giorgia Ruotolo, et al.
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