45 results on '"Yagi, Hisato"'
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2. Mitotic Block and Epigenetic Repression Underlie Neurodevelopmental Defects and Neurobehavioral Deficits in Congenital Heart Disease
3. Cardiomyocyte-Targeting Peptide to Deliver Amiodarone
4. Spatial transcriptome profiling uncovers metabolic regulation of left-right patterning
5. Role of Cilia and Left-Right Patterning in Congenital Heart Disease
6. The Genetic Landscape of Hypoplastic Left Heart Syndrome
7. Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome
8. Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome
9. Vertebrate myosin 1d regulates left–right organizer morphogenesis and laterality
10. Uncompensated mitochondrial oxidative stress underlies heart failure in an iPSC-derived model of congenital heart disease
11. Global genetic analysis in mice unveils central role for cilia in congenital heart disease
12. Outcomes of Childhood Pulmonary Arterial Hypertension in BMPR2 and ALK1 Mutation Carriers
13. Distinct Function of 2 Chromatin Remodeling Complexes That Share a Common Subunit, Williams Syndrome Transcription Factor (WSTF)
14. Novel Lung Targeting Cell Penetrating Peptides as Vectors for Delivery of Therapeutics
15. Heterotaxy
16. Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
17. iPSC modeling shows uncompensated mitochondrial mediated oxidative stress underlies early heart failure in hypoplastic left heart syndrome
18. Phenotype–Genotype Correlation in a Patient With Co-Occurrence of Marfan and LEOPARD Syndromes
19. Abstract 16609: Characterization of Neurodevelopmental Defects Associated With a Mouse Model of Hypoplastic Left Heart Syndrome
20. An unconventional myosin,myosin 1dregulates Kupffer’s vesicle morphogenesis and laterality
21. The complex genetics of hypoplastic left heart syndrome
22. Role of TBX1 in human del22q11.2 syndrome
23. DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia
24. Prickle1mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects
25. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
26. High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
27. Lagerstroemia speciosa extract inhibit TNF-induced activation of nuclear factor-κB in rat cardiomyocyte H9c2 cells
28. Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton
29. Transrepression activity of T-box1 in a gene regulation network in mouse cells
30. Abstract 19282: NAT10 Mutaion Causes Ciliary Aplisia and Congenital Heart Disease Associated with Heterotaxy
31. Abstract 8895: Clinical Outcomes of Mutation Carriers in Pulmonary Arterial Hypertension in Children
32. Abstract 19326: Microrna Regulating Protein Bicc1 Causes Dilated Cardiomyopathy Through Modulation of Polycystin-2
33. High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
34. Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice
35. Implications of Mutations of Activin Receptor-Like Kinase 1 Gene (ALK1) in Addition to Bone Morphogenetic Protein Receptor II Gene (BMPR2) in Children With Pulmonary Arterial Hypertension
36. Germline gain-of-function mutations in RAF1 cause Noonan syndrome
37. The genetics of tethered cord syndrome
38. Phenotype–genotype correlation in a patient with cooccurrence of Marfan and LEOPARD syndromesHow to Cite this Article: Tang S, Hoshida H, Kamisago M, Yagi H, Momma K, Matsuoka R. 2009. Phenotype–genotype correlation in a patient with cooccurrence of Marfan and LEOPARD syndromes. Am J Med Genet Part A 149A:2216–2219.Sa Tang and Hiroshi Hoshida contributed equally to this work. Sa Tang is now affiliated with the School of Environmental and Life Sciences, University of Newcastle, Ourimbah, Australia.
39. Mitotic Block and Epigenetic Repression Underlie Neurodevelopmental Defects and Neurobehavioral Deficits in Congenital Heart Disease.
40. Cardiomyocyte Targeting Peptide to Deliver Amiodarone.
41. Spatial transcriptome profiling uncovers metabolic regulation of left-right patterning.
42. Novel Lung Targeting Cell Penetrating Peptides as Vectors for Delivery of Therapeutics.
43. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.
44. Retraction for Yoshimura et al., Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF).
45. [Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension].
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