Silvia Kalantari

Pavia, Italy

Last Updated: 09/26/2026

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Found 30 publications

The ZMIZ1-GTF2I interaction as a potential contributor to the neurodevelopmental phenotype in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA).

The ZMIZ1-GTF2I interaction as a potential contributor to the neurodevelopmental phenotype in neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA).

Journal: Pediatric research

Published: January 06, 2026

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

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Journal: European journal of human genetics : EJHG

Published: September 05, 2025

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Journal: Genes

Published: June 03, 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

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Journal: Pediatric neurology

Published: February 15, 2025

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Journal: Journal of medical genetics

Published: December 25, 2024

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Journal: American journal of medical genetics. Part A

Published: September 04, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?

Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?

Journal: European journal of human genetics : EJHG

Published: March 24, 2024

Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.

Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.

Journal: European journal of endocrinology

Published: December 04, 2023

Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum.

Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum.

Journal: European journal of human genetics : EJHG

Published: September 30, 2023

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Last Updated: 09/26/2026