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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.
J Med Life. 2020 Oct-Dec;13(4):624-628. doi: 10.25122/jml-2020-0092.
J Med Life. 2020.
PMID: 33456614
Free PMC article.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A.
Alesi V, et al. Among authors: restaldi f.
Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6.
Cytogenet Genome Res. 2017.
PMID: 28478456
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Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
Alesi V, Dentici ML, Restaldi F, Orlando V, Liambo MT, Calacci C, Capolino R, Digilio MC, El Hachem M, Novelli A, Diociaiuti A, Dallapiccola B.
Alesi V, et al. Among authors: restaldi f.
Am J Med Genet A. 2017 Jul;173(7):1943-1946. doi: 10.1002/ajmg.a.38269. Epub 2017 May 10.
Am J Med Genet A. 2017.
PMID: 28489314
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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.
Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A.
Restaldi F, et al.
Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019.
Mol Cytogenet. 2019.
PMID: 31223340
Free PMC article.
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Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.
Petrini S, Borghi R, D'Oria V, Restaldi F, Moreno S, Novelli A, Bertini E, Compagnucci C.
Petrini S, et al. Among authors: restaldi f.
Aging (Albany NY). 2017 May 31;9(5):1453-1469. doi: 10.18632/aging.101248.
Aging (Albany NY). 2017.
PMID: 28562315
Free PMC article.
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First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Loddo S, Alesi V, Genovese S, Orlando V, Calacci C, Restaldi F, Pompili D, Liambo MT, Digilio MC, Dallapiccola B, Dentici ML, Novelli A.
Loddo S, et al. Among authors: restaldi f.
Cytogenet Genome Res. 2018;156(2):87-94. doi: 10.1159/000493935. Epub 2018 Oct 30.
Cytogenet Genome Res. 2018.
PMID: 30372694
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Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.
Sferra A, et al. Among authors: restaldi f.
Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.
Hum Mol Genet. 2018.
PMID: 29547997
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