125 results on '"Morisaki, Hiroko"'
Search Results
2. Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report
3. Relationship Between Mutations in ENG and ALK1 Genes and the Affected Organs in Hereditary Hemorrhagic Telangiectasia
4. Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia
5. Hereditary Aortic Disease: Early Diagnosis and Management with Effective Use of Genetic Diagnosis
6. Genetics of Marfan Syndrome, Related Disorders, and Bicuspid Aortic Valve
7. Case Report: Spontaneous Postpartum Quadruple Cervicocephalic Arterial Dissection With a Heterozygous COL5A1 Variant of Unknown Significance
8. The differences in surgical long-term outcomes between Marfan syndrome and Loeys–Dietz syndrome
9. Long-term durability of a reimplantation valve-sparing aortic root replacement can be expected in both Marfan syndrome and Loeys-Dietz syndrome
10. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
11. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
12. Loeys-Dietz Cardiomyopathy? Long-Term Follow-Up After Onset of Acute Decompensated Heart Failure
13. A case of male incontinentia pigmenti surviving until 19 weeks of gestation in utero
14. Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review
15. Impact of Annual Cardiovascular Screening Tests in Patients with Type 2 Diabetes Mellitus without Previous Histories of Cardiovascular Disease: Four-year Clinical Outcomes
16. Association of protein tyrosine phosphatase 1B gene polymorphism with the effects of weight reduction therapy on bodyweight and glycolipid profiles in obese patients
17. Aortic dissection during pregnancy and puerperium: A Japanese nationwide survey
18. Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome
19. Validity of Using Ghent Criteria for Japanese Population Suspected of Marfan Syndrome
20. Loeys-Dietz Syndrome Presenting with Giant Bullae and Asthma
21. Histologic differences between the ascending and descending aortas in young adults with fibrillin-1 mutations
22. Impact of Cardiovascular Screening Tests in Patients with Type 2 Diabetes Mellitus without Previous Histories of Cardiovascular Disease: 5-year Clinical Outcomes.
23. Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation
24. Molecular Analysis of Mouse ampd3 Gene Encoding Heart-Type Isoform of Amp Deaminase
25. A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality
26. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
27. Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing
28. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
29. A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3
30. Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency
31. A new ENG mutation in a Japanese family with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations
32. Role of AMPD2 in impaired glucose tolerance induced by high fructose diet
33. Impact of connective tissue disease on the surgical outcomes of aortic dissection in patients with cystic medial necrosis
34. Clinical outcomes of aortic repair in young adult patients with ACTA2 mutations
35. Genetics of Hereditary Large Vessel Diseases
36. Left main coronary artery compression by a dilated main pulmonary artery and left coronary sinus of Valsalva aneurysm in a patient with heritable pulmonary arterial hypertension and FLNA mutation
37. Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report
38. The Efficacy of a Genetic Analysis of the BMPR2 Gene in a Patient with Severe Pulmonary Arterial Hypertension and an Atrial Septal Defect Treated with Bilateral Lung Transplantation
39. Genetic testing of hereditary aortopathy in the NGS era
40. Nurse-led training and education program on insulin pump therapy in Japan
41. Silent myocardial ischemia in asymptomatic patients with type 2 diabetes mellitus without previous histories of cardiovascular disease
42. Pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia successfully treated with sildenafil
43. Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation
44. GOUT AND NUCLEIC ACID METABOLISM
45. GOUT AND NUCLEIC ACID METABOLISM
46. A Case of Hereditary Hemorrhagic Telangiectasia with a De Novo Mutation in Endoglin
47. Erratum to: AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle
48. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease
49. Genetics of hereditary large vessel diseases
50. Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome
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