Paola Grammatico

Pubblicazioni

Titolo Pubblicato in Anno
Use of DPB1 T-cell epitope algorithm among italian transplant centers: A survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti HLA 2021
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation JOURNAL OF MOLECULAR NEUROSCIENCE 2021
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion EUROPEAN JOURNAL OF MEDICAL GENETICS 2020
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype CLINICAL GENETICS 2020
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel FRONTIERS IN ONCOLOGY 2020
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap CLINICAL GENETICS 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ 2020
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication NEUROLOGICAL SCIENCES 2020
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

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