385 results on '"Morisaki, Hiroko"'
Search Results
2. Genetic association analysis of 77,539 genomes reveals rare disease etiologies
3. AMPD2 plays important roles in regulating hepatic glucose and lipid metabolism
4. Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review
5. The differences in surgical long-term outcomes between Marfan syndrome and Loeys–Dietz syndrome
6. Relationship Between Mutations in ENG and ALK1 Genes and the Affected Organs in Hereditary Hemorrhagic Telangiectasia
7. Histologic differences between the ascending and descending aortas in young adults with fibrillin-1 mutations
8. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
9. Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature
10. Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report
11. Genetics of Marfan Syndrome, Related Disorders, and Bicuspid Aortic Valve
12. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
13. Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia
14. Silent myocardial ischemia in asymptomatic patients with type 2 diabetes mellitus without previous histories of cardiovascular disease
15. Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations
16. Hereditary Aortic Disease: Early Diagnosis and Management with Effective Use of Genetic Diagnosis
17. Variations in echocardiographic findings in patients with Loeys-Dietz syndrome type 4 with 2 types of variant mutations in TGFB
18. Aortic Dissection and a Previously Unreported ACTA2Missense Variant Mutation in a Young Patient: A Case Report
19. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease
20. Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance
21. Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome
22. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14)
23. Molecular Analysis of Mouse ampd3 Gene Encoding Heart-Type Isoform of Amp Deaminase
24. Long-term durability of a reimplantation valve-sparing aortic root replacement can be expected in both Marfan syndrome and Loeys-Dietz syndrome
25. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
26. Loeys-Dietz Cardiomyopathy? Long-Term Follow-Up After Onset of Acute Decompensated Heart Failure
27. A case of male incontinentia pigmenti surviving until 19 weeks of gestation in utero
28. Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review
29. Impact of Annual Cardiovascular Screening Tests in Patients with Type 2 Diabetes Mellitus without Previous Histories of Cardiovascular Disease: Four-year Clinical Outcomes
30. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome
31. Resistin gene variations are associated with the metabolic syndrome in Japanese men
32. Association study of 11β-hydroxysteroid dehydrogenase type 1 gene polymorphisms and metabolic syndrome in urban Japanese cohort
33. Characteristics in Phenotypic Manifestations of Genetically Proved Marfan Syndrome in a Japanese Population
34. Molecular Basis of AMP Deaminase Deficiency in Skeletal Muscle
35. Postoperative mitral leaflet rupture in an infant with Loeys–Dietz syndrome
36. High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome
37. Association of protein tyrosine phosphatase 1B gene polymorphism with the effects of weight reduction therapy on bodyweight and glycolipid profiles in obese patients
38. Aortic dissection during pregnancy and puerperium: A Japanese nationwide survey
39. Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations
40. Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data
41. Validity of Using Ghent Criteria for Japanese Population Suspected of Marfan Syndrome
42. AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency
43. CDH13 gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population
44. Proteinuria in AMPD2–deficient mice
45. Functional analysis of the p57 KIP2 gene mutation in Beckwith-Wiedemann syndrome
46. Loeys-Dietz Syndrome Presenting with Giant Bullae and Asthma
47. Impact of Cardiovascular Screening Tests in Patients with Type 2 Diabetes Mellitus without Previous Histories of Cardiovascular Disease: 5-year Clinical Outcomes.
48. Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation
49. Genetic Link Between Obesity and MMP14-Dependent Adipogenic Collagen Turnover
50. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B
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