Publications by authors named "Maria P Recalcati"

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Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
Serena Redaelli, Francesca Romana Grati, Viviana Tritto, Giuliana Giannuzzi, Maria Paola Recalcati

HGG Adv· April 2024

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-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.
Flavia Privitera, Flavia Piccini, Maria Paola Recalcati, Silvia Presi, Silvia Mazzola

Genes (Basel)· July 2023

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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Maria Paola Recalcati

Clin Genet· February 2023

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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 Paola Recalcati

Prenat Diagn· December 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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Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.
Serena Redaelli, Donatella Conconi, Elena Sala, Nicoletta Villa, Francesca Crosti, Maria Paola Recalcati

Int J Mol Sci· March 2022

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Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
Nicoletta Villa, Serena Redaelli, Elena Sala, Donatella Conconi, Lorenza Romitti, Maria Paola Recalcati

Int J Mol Sci· May 2021

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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, Maria Paola Recalcati

Genes (Basel)· April 2021

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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.
Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza

Front Neurol· December 2020

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Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.
Ilaria Catusi, Maria Teresa Bonati, Ester Mainini, Silvia Russo, Eleonora Orlandini, Maria Paola Recalcati

Int J Mol Sci· November 2020

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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 Paola Recalcati

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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Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Maria Paola Recalcati

Front Genet· November 2018

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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati

BMC Med Genomics· September 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

Eur J Med Genet· March 2018

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7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.
Rossella Caselli, Lucia Ballarati, Aglaia Vignoli, Angela Peron, Maria Paola Recalcati

Eur J Med Genet· November 2015

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Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.
Chiara Castronovo, Raffaella Rossetti, Daniela Rusconi, Maria P Recalcati, Chiara Cacciatore

Hum Reprod· February 2014

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Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
Maria Paola Recalcati, Melissa Bellini, Lorenzo Norsa, Lucia Ballarati, Rossella Caselli

Gene· July 2012

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Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
Palma Finelli, Silvia Maria Sirchia, Maura Masciadri, Milena Crippa, Maria Paola Recalcati

Mol Cytogenet· April 2012

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Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
Lucia Ballarati, Anna Cereda, Rossella Caselli, Angelo Selicorni, Maria P Recalcati

Eur J Med Genet· June 2011

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Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits.
Maria Paola Recalcati, Emanuele Valtorta, Lorenza Romitti, Daniela Giardino, Emanuela Manfredini

Eur J Med Genet· October 2010

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
Daniela Giardino, Aglaia Vignoli, Lucia Ballarati, Maria Paola Recalcati, Silvia Russo

BMC Med Genet· October 2010

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Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Lucia Ballarati, Maria Paola Recalcati, Maria Francesca Bedeschi, Faustina Lalatta, Chiara Valtorta

Eur J Med Genet· November 2009

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Misbehaviour of XIST RNA in breast cancer cells.
Silvia M Sirchia, Silvia Tabano, Laura Monti, Maria P Recalcati, Manuela Gariboldi

PLoS One· August 2009

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