| Titolo |
Pubblicato in |
Anno |
| 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 |
| Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement |
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY |
2016 |
| Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy |
DATA IN BRIEF |
2016 |
| Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family |
OPHTHALMIC GENETICS |
2016 |
| Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes |
NEUROLOGY |
2016 |
| Clinical and molecular characterization of two patients with palmoplantar keratoderma–congenital alopecia syndrome type 2 |
CLINICAL AND EXPERIMENTAL DERMATOLOGY |
2016 |
| Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception |
PLOS GENETICS |
2016 |
| Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 |
BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY |
2016 |
| Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia. |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
2015 |
| Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain. |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS |
2015 |
