Paola Grammatico

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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