Publications by authors named "Fabrizia Restaldi"

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Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations.
Francesco Libotte, Sonia Lorena Carpineto, Claudio Dello Russo, Antonella Viola, Katia Margiotti, Fabrizia Restaldi

J Med Life· January 2021

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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo

Mol Cytogenet· June 2019

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First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Sara Loddo, Viola Alesi, Silvia Genovese, Valeria Orlando, Chiara Calacci, Fabrizia Restaldi

Cytogenet Genome Res· October 2018

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Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Antonella Sferra, Fabiana Fattori, Teresa Rizza, Elsabetta Flex, Emanuele Bellacchio, Fabrizia Restaldi

Hum Mol Genet· June 2018

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Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Viola Alesi, Valeria Orlando, Silvia Genovese, Sara Loddo, Elisa Pisaneschi, Fabrizia Restaldi

Cytogenet Genome Res· September 2017

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Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
Viola Alesi, Maria L Dentici, Fabrizia Restaldi, Valeria Orlando, Maria T Liambo

Am J Med Genet A· July 2017

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Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.
Stefania Petrini, Rossella Borghi, Valentina D'Oria, Fabrizia Restaldi, Sandra Moreno

Aging (Albany NY)· May 2017

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