200 results on '"Cusano R"'
Search Results
2. Molecular characterization of an Italian series of sporadic GISTs
3. Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome
4. Gut Microbiota and Metabolome Alterations Associated with Parkinson's Disease
5. Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis
6. Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions
7. Identification of a SUFU germline mutation in a family with Gorlin syndrome
8. Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes
9. A Case of Sporadic Cylindromatosis with a Novel Germline Mutation in CYLD gene
10. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing
11. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis
12. INK4/ARF germline alterations in pancreatic cancer patients
13. Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction
14. A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
15. Role of HLA-G in autoimmune hepatitis
16. Impatto dei recettori KIR e dei suoi ligandi HLA sull’esito del trapianto di rene
17. The Epstein syndrome: a further renal disorder due to mutations in the nonmuscle myosin heavy chain 9 gene
18. Mutations in the nonmuscle myosin heavy chain IIA gene (MYH9) result in the diverse phenotypes of the May-Hegglin anomaly, Fechtner and Sebastian syndromes
19. Population and individual effects of non-coding variants inform genetic risk factors
20. The Epstein syndrome: a further renal disorder due to mutations in the nonmuscle myosin heavy chain 9 gene
21. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium
22. A refined physical and transcriptional map of the SPG9 locus on 10q23.3[#150]q24.2
23. Localization of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11-q13
24. Analisi e simulazione di un impianto a ciclo combinato in assetto cogenerativo
25. 'Identification of LMX1B gene point mutations in italian patients affected with nail-patella syndrome'
26. Genetic mapping of an Italian large pedigree of a new syndrome showing bilateral cataract, gastroesophageal reflux and spastic paraparesis with amyotrophy
27. The first intron of the human osteopontin gene contains a C/EBP beta responsive enhancer
28. Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma
29. Analisi molecolare del gene PTCH nella Sindrome di Gorlin (Carcinoma Nevo Basocellulare NBCCS)
30. Nuova mutazione del gene IRF6 in un caso familiare di sindrome di van der Wood
31. MAY-HEGGLIN ANOMALY, SEBASTIAN, FECHTNER, AND EPSTEIN SYNDROMES ARE NOT DISTINCT ENTITIES BUT DIFFERENT CLINICAL EXPRESSIONS OF A SINGOL MYH9-RELATEED DISEASE
32. Germline mutations of the PTCH gene in Italian patients with Nevoid Basal Cell Carcinoma Syndrome
33. INK4/ARF germline mutations and additional neoplasia in pancreatic cancer patients and their families
34. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene
35. The Epstein syndrome: a further renal disorder due to mutations in the nonmuscle myosin heavy chain 9 gene
36. Analisi di mutazioni del gene PTCH nella sindrome di Gorlin
37. Localisation of the gene responsible for Fechtner syndrome in a region
38. Mutations in MYH9 in May-Hegglin anomaly, and Fechtner and Sebastian syndromes
39. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2
40. Nuclear run-on by biotin labelling, magnetic beads capture and fluorescent RT-PCR analysis of RNA
41. LOCALISATION OF THE GENE RESPONSIBLE FOR FECHTNER SYNDROME IN A REGION <600 KB ON 22q11-q13
42. Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter
43. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
44. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
45. Identification of aSUFUgermline mutation in a family with Gorlin syndrome
46. P43 Molecular features in locally advanced head-and-neck squamous carcinomas might predict response to treatment with chemotherapy alternated to radiation and Cetuximab
47. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients
48. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
49. Exclusion of candidate genes and chromosomal regions in familial neuroblastoma.
50. Nuclear Run-On Assay Using Biotin Labeling, Magnetic Bead Capture and Analysis by Fluorescence-Based RT-PCR
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