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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
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome
CLINICAL GENETICS
2020
Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
2020
Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study
PLOS ONE
2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome
DERMATOLOGY ONLINE JOURNAL
2020
Autism Spectrum Disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
PSYCHIATRIC GENETICS
2019
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients
RHEUMATOLOGY
2019
A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor
HLA
2019
LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
2019
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
HUMAN MUTATION
2019
A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor
HLA
2019
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis
BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE
2018
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia
EUROPEAN JOURNAL OF HUMAN GENETICS
2018
Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia
EUROPEAN JOURNAL OF HUMAN GENETICS
2018
Two novel RHD alleles encoding truncated, nonfunctional D polypeptides
TRANSFUSION
2018
c-MET receptor as potential biomarker and target molecule for malignant testicular germ cell tumors
ONCOTARGET
2018
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder
AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS
2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
2018
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder
AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS
2018
A novel germline mutation in CDK4 codon 24 associated to familial melanoma
CLINICAL GENETICS
2017
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology
CLINICAL GENETICS
2017
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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
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