Paola Grammatico

Pubblicazioni

Titolo Pubblicato in Anno
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
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. EUROPEAN JOURNAL OF MEDICAL GENETICS 2015
Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2015
Peutz-Jeghers Syndrome. Atlas Genet Cytogenet Oncol Haematol 2015

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