474 results on '"Scambler, Peter J."'
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2. Dual role for CXCL12 signaling in semilunar valve development
3. Mechanisms and cell lineages in lymphatic vascular development
4. A unique subset of pericystic endothelium associates with aberrant microvascular remodelling and impaired blood perfusion early in polycystic kidney disease
5. Activation of podocyte Notch mediates early Wt1 glomerulopathy
6. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
7. HIC2 regulates isoform switching during maturation of the cardiovascular system
8. Corrigendum to “HIC2 regulates isoform switching during maturation of the cardiovascular system” [Journal of Molecular and Cellular Cardiology volume 114 (2018) P29-37/ https://doi.org/10.1016/j.yjmcc.2017.10.007]
9. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
10. Tissue Clearing and Deep Imaging of the Kidney Using Confocal and Two-Photon Microscopy
11. HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells
12. CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression
13. A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development
14. The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development
15. Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1
16. Three-dimensional imaging and single-cell transcriptomics of the human kidney implicate perturbation of lymphatics in alloimmunity
17. A coming of age: advanced imaging technologies for characterising the developing mouse
18. Novel exomphalos genetic mouse model: The importance of accurate phenotypic classification
19. Clinical and molecular effects of CHD7 in the heart
20. Fraser Syndrome and Related Conditions
21. HOXD13 and Synpolydactyly
22. Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping
23. Tbx1 Haploinsutticiency Is Linked to Behavioral Disorders in Mice and Humans: Implications for 22q11 Deletion Syndrome
24. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome
25. Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions
26. Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect†
27. Neural crest–derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation
28. Expression of Fraser syndrome genes in normal and polycystic murine kidneys
29. 22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development
30. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
31. Micro-MRI phenotyping of a novel double-knockout mouse model of congenital heart disease
32. Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1
33. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
34. Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology
35. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
36. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
37. Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: Comparison and validation with manual segmentation
38. Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
39. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
40. Hyperdynamic Plasticity of Chromatin Proteins in Pluripotent Embryonic Stem Cells
41. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
42. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. (Report)
43. Mutations in GRIP1 cause Fraser syndrome
44. HOXD13 and Synpolydactyly
45. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
46. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer
47. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
48. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
49. Foreword
50. Molecular genetics of velo-cardio-facial syndrome
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