38 results on '"De Bernardo, Carmelilia"'
Search Results
2. TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy
3. Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma
4. Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation
5. BRCA mutations and their clinical relevance in unselected pancreatic cancer population.
6. Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening
7. Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
8. A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes
9. The “old theme” of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with (“San Diego” variant) and without ragged metaphyses due to the same FGFR3 mutation
10. Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient
11. A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases
12. Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6
13. Syndromic True Hermaphroditism Due to an R-spondin1 (RSPO1) Homozygous Mutation
14. Clinical Phenotype and Molecular Characterization of 6q Terminal Deletion Syndrome: Five New Cases
15. Correlation Between Antioxidants and Phototypes in Melanocytes Cultures. A Possible Link of Physiologic and Pathologic Relevance
16. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis
17. A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation
18. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
19. Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy
20. Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy
21. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
22. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
23. A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma
24. A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation
25. Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain
26. Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction?
27. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
28. Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction?
29. Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis
30. Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening
31. Molecular characterization of 11 Italian patients with Darier Disease
32. AXIN2 germline mutations are rare in familial melanoma
33. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
34. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
35. Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene
36. Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2and PAX6
37. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis
38. Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.
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