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Your search keyword '"Intestinal Polyposis congenital"' showing total 111 results

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111 results on '"Intestinal Polyposis congenital"'

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1. Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.

2. Deciphering the clinical spectrum of gastric disease in patients with juvenile polyposis syndrome.

3. Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.

4. SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.

5. Successful treatment of juvenile polyposis of infancy with sirolimus: a case report.

6. Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.

7. Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

8. Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

9. Studying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross and Smad4 Knock-Out Mouse Models.

10. Will previous antimicrobial therapy reduce the positivity rate of metagenomic next-generation sequencing in periprosthetic joint infections? A clinical study.

11. The c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.

13. FOCAD Indel in a Family With Juvenile Polyposis Syndrome.

14. Juvenile polyposis: Focus on less described manifestations.

15. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

16. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.

17. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

18. Juvenile polyposis syndrome: An overview.

21. Digital Clubbing in Hereditary Hemorrhagic Telangiectasia/Juvenile Polyposis Syndrome.

22. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4 / BMPR1A Variant.

23. SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.

24. Importance of early detection of juvenile polyposis syndrome: A case report and literature review.

25. Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.

26. Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.

27. Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.

28. SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.

29. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.

30. Cancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndrome.

31. Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.

33. Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.

34. Diagnosis and management of a solitary colorectal juvenile polyp in an adult during follow-up for ulcerative colitis: A case report.

35. Polyp Characteristics of Nonsyndromic and Potentially Syndromic Juvenile Polyps: A Retrospective Cohort Analysis.

36. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

37. Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus.

38. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.

39. BMPR1A mutation-positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?

40. The role of prophylactic gastrectomy in patients with juvenile polyposis syndrome.

41. Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.

42. Multiorgan Transplantation as a Viable Treatment Option in Infantile Juvenile Polyposis Syndrome.

43. Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome.

44. Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.

45. Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation.

46. Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.

48. Malignant tumors associated with juvenile polyposis syndrome in Japan.

49. Pathology and genetics of hereditary colorectal cancer.

50. Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.

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