Paola Grammatico

Pubblicazioni

Titolo Pubblicato in Anno
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype AMERICAN JOURNAL OF HUMAN GENETICS 2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome DERMATOLOGY ONLINE JOURNAL 2020
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2020
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia GENES 2020
A single center retrospective review of patients from central italy tested for melanoma predisposition genes INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2020
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

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

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