Paola Grammatico

Pubblicazioni

Titolo Pubblicato in Anno
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
Identification of a Second HOXA2 Nonsense Mutation in a Family with Autosomal Dominant Non-Syndromic Microtia and distinctive ear morphology clinical genetics 2017
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects CELLULAR PHYSIOLOGY AND BIOCHEMISTRY 2017
COL6A5 variants in familial neuropathic chronic itch BRAIN 2017
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations CLINICAL GENETICS 2017
Malattie ereditarie sistemiche del tessuto connettivo Genetica Umana e Medica 2017
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review CARDIOVASCULAR PATHOLOGY 2016

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