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1.
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives.
J Med Genet
; 59(9): 924-930, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34782441
2.
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.
Hered Cancer Clin Pract
; 21(1): 19, 2023 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37821984
3.
Germline RET variants underlie a subset of paediatric osteosarcoma.
J Med Genet
; 58(1): 20-24, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32179705
4.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
; 20(1): 36, 2022 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36182917
5.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Genet Med
; 23(4): 705-712, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33257847
6.
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.
Genet Med
; 22(9): 1524-1532, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32398773
7.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(9): 1569, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32690931
8.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med
; 22(1): 15-25, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31337882
9.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31204389
10.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 8, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858900
11.
[Hereditary Colorectal Cancer: Clinics, Diagnostics and Management]. / Erblicher Darmkrebs: Klinik, Diagnostik und Management.
Ther Umsch
; 75(10): 601-606, 2018.
Artículo
en Alemán
| MEDLINE | ID: mdl-31232663
12.
TRPS1 gene alterations in human subependymoma.
J Neurooncol
; 134(1): 133-138, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28528424
13.
Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers.
Genes Chromosomes Cancer
; 54(9): 575-82, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26171675
14.
High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders.
Hum Mutat
; 36(2): 250-9, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25418510
15.
Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.
Br J Cancer
; 113(4): 686-92, 2015 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-26247575
16.
Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.
Eur J Haematol
; 94(5): 456-62, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24853125
17.
Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study.
Genet Med
; 16(5): 374-8, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24113347
18.
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
Gut
; 62(6): 812-23, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23408351
19.
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
Mol Genet Genomic Med
; 12(1): e2360, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38284451
20.
mRNA transfection-based, feeder-free, induced pluripotent stem cells derived from adipose tissue of a 50-year-old patient.
Metab Eng
; 18: 9-24, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23542141