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43 results on '"Spier Isabel"'

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1. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

3. Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.

4. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

5. MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.

6. Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.

7. Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

8. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

9. Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

10. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.

11. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

12. Wnt genes in colonic polyposis predisposition.

13. First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.

14. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

15. Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.

16. Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.

17. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.

18. Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.

19. Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

20. Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.

21. Cancer predisposition and germline CTNNA1 variants.

22. mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.

23. Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.

24. 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.

25. [Rare tumors as leading symptom of hereditary tumor syndromes].

26. [Outcomes after Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer].

27. Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.

28. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

29. Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

30. Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.

31. Phenotypic Variability of MUTYH-Associated Polyposis in Monozygotic Twins and Endoscopic Resection of A Giant Polyp in Pregnancy.

32. Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

33. Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.

34. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

35. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.

36. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

37. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.

38. Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.

39. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

40. MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

41. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

42. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

43. MDR1 gene transfer using a lentiviral SIN vector confers radioprotection to human CD34+ hematopoietic progenitor cells.

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