134 results on '"Hruska, Kathleen S"'
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2. Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer
3. Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing
4. Germline pathogenic variants identified in women with ovarian tumors
5. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
6. Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis
7. Supplementary Materials, Figure S1-S4, Table S1-S9 from Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
8. Data from Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
9. Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis
10. Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
11. Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
12. Pathogenic Variants Identified in Women with Epithelial Ovarian Cancer Diagnosed Before Age 31 [35A]
13. Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels
14. Phenotypic continuum betweenPOLE‐related recessive disorders: A case report and literature review
15. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay
16. Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review.
17. Expression of Lysostaphin in Milk of Transgenic Mice Affects the Growth of Neonates
18. Conditional Over-Expression of Estrogen Receptor Alpha in a Transgenic Mouse Model
19. Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome
20. Ancestry‐specific hereditary cancer panel yields: Moving toward more personalized risk assessment
21. Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
22. The Need for Appropriate Genotyping Strategies for Glucocerebrosidase Mutations in Cohorts With Parkinson Disease
23. Gaucher Disease: Mutation and Polymorphism Spectrum in the Glucocerebrosidase Gene (GBA)
24. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA repor
25. Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers
26. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
27. Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome.
28. With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment
29. Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
30. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer
31. Mosaic TP53 pathogenic variants on multi-gene hereditary cancer panel testing: Clinical characteristics and follow-up testing.
32. Germline pathogenic variants in patients with pheochromocytoma.
33. Polyp burden in Lynch syndrome patients ascertained via multigene panel testing.
34. High prevalence of pathogenic variants in individuals with colorectal cancer ≤ age 35.
35. Gaucher disease and the synucleinopathies
36. Multigene hereditary cancer testing in sarcoma patients.
37. Efforts Toward Consensus Variant Interpretation by Commercial Laboratories
38. Multigene hereditary cancer panel testing for patients with pancreatic cancer.
39. Apparently Heterozygous TP53Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
40. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
41. In silico and functional studies of the regulation of the glucocerebrosidase gene
42. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
43. Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism
44. Methoxychlor-Induced Atresia in the Mouse Involves Bcl-2 Family Members, but Not Gonadotropins or Estradiol1
45. Introduction of Estrogen Receptor-α into the tTA/TAg Conditional Mouse Model Precipitates the Development of Estrogen-Responsive Mammary Adenocarcinoma
46. Concurrent Pregnancy Retards Mammary Involution: Effects on Apoptosis and Proliferation of the Mammary Epithelium after Forced Weaning of Mice1
47. Environmental Factors in Infertility
48. The nucleotide sequence of the luxA and luxB genes of Xenorhabdus luminescens HM and a comparison of the amino acid sequences of luciferases from four species of bioluminescent bacteria
49. The nucleotide sequence of theluxDgene ofXenorhabdus luminescensHm
50. The nucleotide sequence of the luxe gene of Vibrio harveyi and a comparison of the amino acid sequences of the acyl-protein synthetases from V. harveyi and V. fischeri
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