1,201 results on '"Castori, Marco"'
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2. Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
3. Contributors
4. Generalized joint hypermobility and pain
5. Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
6. Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
7. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
8. Circulating biomarkers in familial cerebral cavernous malformation
9. A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
10. Markedly raised CA 19-9 levels in an asymptomatic patient: the role of Helicobacter pylori infection
11. Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells
12. Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
13. A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
14. Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders
15. Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
16. Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial
17. Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults
18. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
19. Biallelic LZTR1 variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults.
20. Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.
21. Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
22. Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
23. Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2
24. Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
25. Microvascular status and skin thickness in adults with hypermobile Ehlers-Danlos syndrome: a pilot investigation
26. Genetic testing for Marfan-like disorders
27. The Ehlers–Danlos syndromes
28. A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
29. Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age
30. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
31. Chapter 2 - Generalized joint hypermobility and pain: When generalized joint hypermobility changes from an asset to a health concern
32. Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries
33. Genetic testing for Marfan syndrome
34. Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKIalter molecular dynamics and may affect cell cycle
35. Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAPvariant causing DEHMBA syndrome with severe sleep disorder
36. Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
37. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
38. Placing joint hypermobility in context: traits, disorders and syndromes.
39. The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
40. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
41. Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass
42. A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
43. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
44. Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
45. Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene
46. Editorial: Neurodevelopmental, neuropsychiatric and psychosocial correlates of joint hypermobility and related disorders
47. Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema–Distichiasis Syndrome
48. Growth in Distal Arthrogryposes
49. Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
50. Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant
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