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1.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37101184
2.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
J Med Genet
; 58(12): 853-858, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33168572
3.
Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients.
Mod Pathol
; 32(12): 1814-1822, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31273317
4.
Bayesian approach to determining penetrance of pathogenic SDH variants.
J Med Genet
; 55(11): 729-734, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30201732
5.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol
; 8: e2300453, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38412388
6.
The association between multiple pilomatrixomas and APC gene mutations.
Australas J Dermatol
; 59(4): e273-e274, 2018 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-29372558
7.
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers.
Clin Epigenetics
; 15(1): 95, 2023 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-37270516
8.
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Cancers (Basel)
; 15(20)2023 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37894291
9.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
medRxiv
; 2023 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36909643
10.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med
; 15(1): 74, 2023 09 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37723522
11.
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Front Oncol
; 11: 738822, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34604083
12.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Blood Adv
; 4(6): 1131-1144, 2020 03 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-32208489
13.
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
Am J Med Genet A
; 146A(2): 212-8, 2008 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18076102
14.
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
Mol Genet Genomic Med
; 6(3): 357-369, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29490426
15.
Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history.
Eur J Hum Genet
; 26(7): 972-983, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599518
16.
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Neuromuscul Disord
; 20(4): 229-37, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20227276
17.
Novel SOX2 partner-factor domain mutation in a four-generation family.
Eur J Hum Genet
; 17(11): 1417-22, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19471311
18.
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
Clin Dysmorphol
; 15(2): 89-93, 2006 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-16531735
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