Salta al contenuto principale
Ricerc@Sapienza
Toggle navigation
Home
Login
Home
Persone
paola.grammatico@uniroma1.it
Paola Grammatico
Professore Ordinario
Struttura:
DIPARTIMENTO DI MEDICINA SPERIMENTALE
E-mail:
paola.grammatico@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
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
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
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
GENETICS IN MEDICINE
2021
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature
CANCER LETTERS
2021
Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X
BIOLOGY
2021
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments
DIAGNOSTICS
2021
1
2
3
4
seguente ›
ultima »
Progetti di Ricerca
Studio morfologico del capello mediante tricogramma in pazienti affetti da disturbo del rimodellamento cromatinico.
Development of a ctDNA liquid biopsy approach integrated in the management of patients with non-small cell lung carcinoma (NSCLC), gastrointestinal stromal tumor (GIST), colorectal carcinoma (CRC) and melanoma
Approfondimenti molecolari in pazienti affetti da sindrome da suscettibilità neoplastica
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
© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma