Antonella Casella

Pavia, Italy

Last Updated: 09/26/2026

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Found 14 publications

Expanding the Phenotype of TAB2-Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development.

Expanding the Phenotype of TAB2-Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development.

Journal: American journal of medical genetics. Part A

Published: November 14, 2025

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report.

Journal: American journal of medical genetics. Part A

Published: April 29, 2025

A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.

A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.

Journal: American journal of medical genetics. Part A

Published: February 20, 2025

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.

Journal: Genes

Published: August 30, 2023

Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.

Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.

Journal: Parkinsonism & related disorders

Published: June 23, 2021

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.

Journal: Journal of medical genetics

Published: February 18, 2021

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Journal: Human mutation

Published: December 30, 2020

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Journal: Journal of medical genetics

Published: November 05, 2020

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Journal: American journal of medical genetics. Part A

Published: September 25, 2020

Age and sex prevalence estimate of Joubert syndrome in Italy.

Age and sex prevalence estimate of Joubert syndrome in Italy.

Journal: Neurology

Published: April 16, 2019

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

Journal: Brain : a journal of neurology

Published: December 29, 2018

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Journal: American journal of human genetics

Published: June 01, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026