443 results on '"Scambler, Peter J"'
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2. A unique subset of pericystic endothelium associates with aberrant microvascular remodelling and impaired blood perfusion early in polycystic kidney disease
3. Mechanisms and cell lineages in lymphatic vascular development
4. 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]
5. HIC2 regulates isoform switching during maturation of the cardiovascular system
6. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
7. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
8. Tissue Clearing and Deep Imaging of the Kidney Using Confocal and Two-Photon Microscopy
9. HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells
10. CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression
11. Three-dimensional imaging and single-cell transcriptomics of the human kidney implicate perturbation of lymphatics in alloimmunity
12. Clinical and molecular effects of CHD7 in the heart
13. Fraser Syndrome and Related Conditions
14. HOXD13 and Synpolydactyly
15. Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping
16. Tbx1 Haploinsutticiency Is Linked to Behavioral Disorders in Mice and Humans: Implications for 22q11 Deletion Syndrome
17. Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect†
18. Neural crest–derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation
19. Dual role for CXCL12 signaling in semilunar valve development
20. Expression of Fraser syndrome genes in normal and polycystic murine kidneys
21. 22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development
22. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
23. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
24. Micro-MRI phenotyping of a novel double-knockout mouse model of congenital heart disease
25. Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1
26. Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology
27. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
28. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
29. Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: Comparison and validation with manual segmentation
30. Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
31. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
32. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
33. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. (Report)
34. Mutations in GRIP1 cause Fraser syndrome
35. HOXD13 and Synpolydactyly
36. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
37. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer
38. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
39. Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease
40. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
41. Foreword
42. Molecular genetics of velo-cardio-facial syndrome
43. Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein
44. Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
45. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria
46. Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick
47. Familial Gigantism Caused by an NSD1 Mutation
48. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
49. Common arterial trunk associated with a homeodomain mutation of NKX2.6
50. Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11
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