| Titolo |
Pubblicato in |
Anno |
| 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 |
| Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS |
2015 |
| Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. |
GENE |
2015 |
| Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes |
BLOOD CELLS, MOLECULES, & DISEASES |
2015 |
| R-spondin 1/Dickkopf-1/beta-catenin machinery is involved in testicular embryonic angiogenesis |
PLOS ONE |
2015 |
| Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome |
NATURE GENETICS |
2015 |
| Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. |
|
2015 |
| Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients. |
JOURNAL OF PEDIATRIC UROLOGY |
2015 |
