Paola Grammatico

Pubblicazioni

Titolo Pubblicato in Anno
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? FRONTIERS IN NEUROSCIENCE 2024
Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes CARDIOVASCULAR PATHOLOGY 2024
An inherited TBX3 alteration in a prenatal case of ulnar‐mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster JOURNAL OF CELLULAR PHYSIOLOGY 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline AMERICAN JOURNAL OF HUMAN GENETICS 2024
EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report ULTRASOUND IN OBSTETRICS & GYNECOLOGY 2024
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases LEUKEMIA & LYMPHOMA 2023
Myelodysplastic clones arising post chimeric antigen receptor t cell therapy (car-t) procedure: a casuality or a new entity? ANNALS OF HEMATOLOGY 2023
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2023
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2022
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB CLINICAL GENETICS 2022
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement GENETICS IN MEDICINE 2022
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman PRENATAL DIAGNOSIS 2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report GENES 2022
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants ARCHIVES DE PEDIATRIE 2022
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? EUROPEAN JOURNAL OF HUMAN GENETICS 2022
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations GENES 2022
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? GENES 2022
Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports CLINICAL AND EXPERIMENTAL RHEUMATOLOGY 2022
Longitudinal dynamics of SARS-CoV-2 anti–receptor binding domain IgG antibodies in a wide population of health care workers after BNT162b2 vaccination INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES 2022
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome SCIENTIFIC REPORTS 2021

Progetti di Ricerca

Gruppi di ricerca

VALORE PROGNOSTICO DELLE VARIANTI PATOGENETICHE DI GENI DDR (DNA DAMAGE REPAIR) NEI PAZIENTI CON NUOVA DIAGNOSI DI CARCINOMA PROSTATICO O DI NEOPLASIE DELLO STOMACO, PANCREAS E VIE BILIARI: IMPLICAZIONI DELL’ANALISI EREDO-FAMILIARE

Laboratori di ricerca

Genetica Medica II

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