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» Authors » Tania Giangregorio

Tania Giangregorio

Explore the profile of Tania Giangregorio including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 13
Citations 70
Followers 0
Related Specialties
Hematology
Molecular Biology
Biochemistry
Top 10 Co-Authors
Tommaso Pippucci
Marco Seri
Alessandro Pecci
Anna Savoia
Patrizia Noris
Caterina Marconi
Valeria Bozzi
Federica Melazzini
Daniela De Rocco
Serena Barozzi
Published In
Br J Haematol
Haematologica
J Hum Genet
Hamostaseologie
Int J Mol Sci
Affiliations
Soon will be listed here.
Recent Articles
1.
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction
Diquigiovanni C, Rizzardi N, Cataldi-Stagetti E, Gozzellino L, Isidori F, Valenti F, et al.
Gastroenterology . 2024 Aug; 168(1):68-83. PMID: 39173721
Background & Aims: We recently identified a recessive syndrome due to DNA ligase 3 (LIG3) mutations in patients with chronic intestinal pseudo-obstruction, leukoencephalopathy, and neurogenic bladder. LIG3 mutations affect mitochondrial...
2.
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Chen S, Abou-Khalil B, Afawi Z, Ali Q, Amadori E, Anderson A, et al.
medRxiv . 2023 Mar; PMID: 36865150
Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979...
3.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
Marconi C, Pecci A, Palombo F, Melazzini F, Bottega R, Nardi E, et al.
Haematologica . 2022 Dec; 108(7):1909-1919. PMID: 36519321
Inherited thrombocytopenias (IT) are genetic diseases characterized by low platelet count, sometimes associated with congenital defects or a predisposition to develop additional conditions. Next-generation sequencing has substantially improved our knowledge...
4.
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency
Cani I, Pondrelli F, Licchetta L, Minardi R, Giangregorio T, Mostacci B, et al.
Epilepsia Open . 2022 Jul; 7(4):810-816. PMID: 35869793
We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), who presented with an early-onset focal motor status epilepticus (SE) then...
5.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
Gozzelino L, Kochlamazashvili G, Baldassari S, Mackintosh A, Licchetta L, Iovino E, et al.
Brain . 2022 Jul; 145(7):2313-2331. PMID: 35786744
Epilepsy is one of the most frequent neurological diseases, with focal epilepsy accounting for the largest number of cases. The genetic alterations involved in focal epilepsy are far from being...
6.
A Novel Mutation in Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly
Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A, et al.
Int J Mol Sci . 2021 Oct; 22(19). PMID: 34638529
Bernard-Soulier syndrome (BSS) is an autosomal-recessive bleeding disorder caused by biallelic variants in the , , and genes encoding the subunits GPIbα, GPIbβ, and GPIX of the GPIb-IX complex. Pathogenic...
7.
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel germline mutation
Faleschini M, Papa N, Morel-Kopp M, Marconi C, Giangregorio T, Melazzini F, et al.
Haematologica . 2021 Jan; 107(1):260-267. PMID: 33472357
GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing,...
8.
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics
Magi A, Giangregorio T, Semeraro R, Carangelo G, Palombo F, Romeo G, et al.
Comput Struct Biotechnol J . 2020 Aug; 18:1956-1967. PMID: 32774790
Runs of Homozygosity (RoHs) are popular among geneticists as the footprint of demographic processes, evolutionary forces and inbreeding in shaping our genome, and are known to confer risk of Mendelian...
9.
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia
Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, et al.
Br J Haematol . 2018 Oct; 183(2):276-288. PMID: 30351444
The inherited thrombocytopenias (IT) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN1-related thrombocytopenia (ACTN1-RT; Online Mendelian Inheritance in Man: 615193)...
10.
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
Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, et al.
Hamostaseologie . 2018 Jul; 39(1):87-94. PMID: 29996171
-related disease (-RD) is an autosomal-dominant thrombocytopenia caused by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes,...