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84 results on '"Bladder Exstrophy genetics"'

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1. EZH2 specifically regulates ISL1 during embryonic urinary tract formation.

2. De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

3. Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

4. Inflammatory Expression Profiles in Bladder Exstrophy Smooth Muscle: Normalization Over Time.

5. Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.

6. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

7. Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex.

8. Genetic Counseling for Bladder Exstrophy-Epispadias Complex.

9. Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.

10. The Genomic Architecture of Bladder Exstrophy Epispadias Complex.

11. New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex.

12. Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association.

13. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

14. 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

15. Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.

16. [The German research network CURE-Net : A benefit for patients with rare diseases].

17. Exstrophy variant in a female child.

18. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

19. Epispadias and the associated embryopathies: genetic and developmental basis.

20. PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

21. CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

22. WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

23. [In Process Citation].

24. Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

25. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

26. Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality?

27. A case with bladder exstrophy and unbalanced X chromosome rearrangement.

28. Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.

29. Genetics of human congenital urinary bladder disease.

30. New insights into the pathogenesis of bladder exstrophy-epispadias complex.

31. No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients.

32. Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex.

33. Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samples.

34. CNV analysis in monozygotic twin pairs discordant for urorectal malformations.

35. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

36. Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding.

37. Insertion/deletion polymorphisms in the ΔNp63 promoter are a risk factor for bladder exstrophy epispadias complex.

38. Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

39. Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists.

40. Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex.

41. Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.

42. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

43. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.

44. OEIS complex associated with chromosome 1p36 deletion: a case report and review.

45. The exstrophy-epispadias complex.

46. 46, XY female with cloacal exstrophy and masculinization at puberty.

47. Bladder exstrophy-epispadias complex.

48. Genome-wide linkage scan for bladder exstrophy-epispadias complex.

49. Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca.

50. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex.

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