Maria P. Recalcati

Cusano Milanino, 20095, Italy

Last Updated: 09/26/2026

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Found 21 publications

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?

Journal: HGG advances

Published: September 15, 2023

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.

Journal: Genes

Published: June 28, 2023

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Journal: Prenatal diagnosis

Published: August 05, 2022

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Journal: Clinical genetics

Published: July 19, 2022

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Journal: Genes

Published: March 11, 2022

Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.

Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.

Journal: International journal of molecular sciences

Published: February 09, 2022

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.

Journal: Genes

Published: March 18, 2021

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.

Journal: International journal of molecular sciences

Published: March 02, 2021

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.

Journal: Frontiers in neurology

Published: October 01, 2020

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.

Journal: International journal of molecular sciences

Published: September 30, 2020

Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.

Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.

Journal: International journal of molecular sciences

Published: April 01, 2020

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

Journal: Molecular genetics & genomic medicine

Published: July 25, 2019

Showing 1-12 of 21

Last Updated: 09/26/2026