Search details
1.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29330337
2.
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.
Gastroenterology
; 149(4): 897-906.e19, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26072394
3.
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
J Med Genet
; 52(6): 361-74, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25979631
4.
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.
Hum Mol Genet
; 22(5): 919-26, 2013 Mar 01.
Article
in English
| MEDLINE | ID: mdl-23197654
5.
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Gastroenterology
; 146(3): 643-646.e8, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24333619
6.
Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
Hered Cancer Clin Pract
; 12(1): 21, 2014.
Article
in English
| MEDLINE | ID: mdl-25937855
7.
Fine-tiling array CGH to improve diagnostics for α- and ß-thalassemia rearrangements.
Hum Mutat
; 33(1): 272-80, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-21922597
8.
Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.
Cancers (Basel)
; 15(1)2022 Dec 30.
Article
in English
| MEDLINE | ID: mdl-36612224
9.
Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification.
Blood Cells Mol Dis
; 44(3): 146-51, 2010 Mar 15.
Article
in English
| MEDLINE | ID: mdl-20110179
10.
A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).
Blood Cells Mol Dis
; 45(2): 133-5, 2010 Aug 15.
Article
in English
| MEDLINE | ID: mdl-20682466
11.
Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome.
BMJ Open Gastroenterol
; 6(1): e000299, 2019.
Article
in English
| MEDLINE | ID: mdl-31275589
12.
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Eur J Hum Genet
; 25(11): 1246-1252, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28875981
13.
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.
Fam Cancer
; 15(2): 289-96, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26700889
14.
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.
Fam Cancer
; 14(1): 89-94, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25467645
15.
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
Eur J Hum Genet
; 22(5): 617-24, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24084575
16.
Familial gastric cancer: detection of a hereditary cause helps to understand its etiology.
Hered Cancer Clin Pract
; 10(1): 18, 2012 Dec 12.
Article
in English
| MEDLINE | ID: mdl-23231819
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