Maria Marinelli

Reggio Nell'emilia, Italy

Last Updated: 09/26/2026

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Found 14 publications

Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.

Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.

Journal: Fetal and pediatric pathology

Published: March 04, 2026

Prognostic Impact of Chromosome 1q Gain/Amplification in Multiple Myeloma Treated With Daratumumab-Based Regimens.

Prognostic Impact of Chromosome 1q Gain/Amplification in Multiple Myeloma Treated With Daratumumab-Based Regimens.

Journal: European journal of haematology

Published: December 27, 2025

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Journal: Diagnostics (Basel, Switzerland)

Published: September 12, 2025

Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.

Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.

Journal: Fetal and pediatric pathology

Published: September 25, 2023

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.

Journal: Frontiers in genetics

Published: May 30, 2023

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Journal: Genes

Published: November 29, 2021

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Journal: Genes

Published: May 24, 2021

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.

Journal: Fetal and pediatric pathology

Published: January 07, 2021

Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues.

Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues.

Journal: Fetal and pediatric pathology

Published: July 02, 2020

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Journal: American journal of medical genetics. Part A

Published: January 29, 2020

Workload measurement for molecular genetics laboratory: A survey study.

Workload measurement for molecular genetics laboratory: A survey study.

Journal: PloS one

Published: May 11, 2018

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Journal: Italian journal of pediatrics

Published: August 21, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026