Tania Giangregorio

Bologna, Italy

Last Updated: 09/26/2026

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Found 15 publications

A polygenic etiology for inherited thrombocytopenias of unknown origin.

A polygenic etiology for inherited thrombocytopenias of unknown origin.

Journal: HemaSphere

Published: March 06, 2026

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: January 17, 2026

Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.

Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.

Journal: Gastroenterology

Published: February 15, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Journal: Epilepsia open

Published: April 30, 2022

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Journal: Haematologica

Published: March 04, 2022

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

Journal: International journal of molecular sciences

Published: August 19, 2021

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Journal: Brain : a journal of neurology

Published: August 18, 2021

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

Journal: Haematologica

Published: July 31, 2020

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.

Journal: Computational and structural biotechnology journal

Published: March 31, 2020

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.

Journal: Hamostaseologie

Published: July 12, 2018

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Journal: British journal of haematology

Published: February 22, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026