Publications by authors named "Maria Garzo"

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Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Maria Garzo

Prenat Diagn· December 2022

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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
Sara Perego, Valentina Alari, Gianluca Pietra, Andrea Lamperti, Alessandro Vimercati, Maria Garzo

Int J Mol Sci· November 2022

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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello

Genes (Basel)· April 2022

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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo

Genes (Basel)· April 2021

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Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.
Serena Redaelli, Donatella Conconi, Nicoletta Villa, Elena Sala, Francesca Crosti, Maria Garzo

Int J Mol Sci· May 2020

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Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Maria Garzo, Ilaria Catusi, Daniela Maria Colombo, Laura De Grada, Maria Paola Recalcati

Eur J Med Genet· February 2020

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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta

Mol Genet Genomic Med· January 2020

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Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa

Stem Cell Res· October 2019

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Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient.
Patrizia Bossolasco, Francesca Sassone, Valentina Gumina, Silvia Peverelli, Maria Garzo

Stem Cell Res· July 2018

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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).
Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo

Stem Cell Res· July 2018

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Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Maria Paola Recalcati, Maria Teresa Bonati, Nicola Beltrami, Laura Cardarelli, Ilaria Catusi, Maria Garzo

Eur J Med Genet· March 2018

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