MARIA CERMINARA

Last name: MARIA CERMINARA

2022 (v1)

Publication

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An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene

Federica Ruscitti Maria Cerminara Maria Iascone

Introduction PBX1 encodes the pre-B cell leukemia factor 1, a Three Amino acid Loop Extension (TALE) transcription factor crucial to regulate basic developmental processes. PBX1 loss-of-function variants have been initially described in association with renal malformations in both isolated and syndromic forms. Case report Herein, we report a...

Uploaded on: January 31, 2024
2021 (v1)

Publication

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Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs).

Martina Servetti Livia Pisciotta Elisa Tassano

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Uploaded on: February 14, 2024
2022 (v1)

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Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs

Martina Servetti Livia Pisciotta Elisa Tassano

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Uploaded on: April 14, 2023
2022 (v1)

Publication

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Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome

Maria Cerminara Carlotta Vaccari Ilaria Musante

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Uploaded on: April 14, 2023
2021 (v1)

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Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms

Maria Cerminara Martina Servetti Margherita Squillari2

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Uploaded on: February 14, 2024

MARIA CERMINARA

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