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1.
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.
Hered Cancer Clin Pract
; 19(1): 9, 2021 Jan 19.
Article
in English
| MEDLINE | ID: mdl-33468213
2.
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J Med Genet
; 55(1): 15-20, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28490613
3.
MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients.
BMC Med
; 14(1): 182, 2016 11 15.
Article
in English
| MEDLINE | ID: mdl-27842554
4.
Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial.
Genet Med
; 18(2): 137-44, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-25905441
5.
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
Am J Med Genet A
; 170(9): 2431-5, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27338644
6.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
J Med Genet
; 52(4): 224-30, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25643705
7.
Clinically-relevant Germline Variants in Children with Non-Medullary Thyroid Cancer.
J Clin Endocrinol Metab
; 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38415346
8.
Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer.
J Genet Couns
; 22(3): 345-57, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23192360
9.
Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.
Ann Surg
; 255(6): 1171-8, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22470073
10.
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 13(6): R110, 2011.
Article
in English
| MEDLINE | ID: mdl-22053997
11.
Compliance with periodic surveillance for Von-Hippel-Lindau disease.
Genet Med
; 13(6): 519-27, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21415761
12.
Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: design of a multicenter randomized clinical trial.
BMC Cancer
; 11: 6, 2011 Jan 10.
Article
in English
| MEDLINE | ID: mdl-21219598
13.
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
Am J Med Genet A
; 155A(10): 2566-70, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21910239
14.
Genetic analysis of von Hippel-Lindau disease.
Hum Mutat
; 31(5): 521-37, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20151405
15.
Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study.
World J Surg
; 34(4): 852-60, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20063095
16.
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.
Breast Cancer Res
; 11(1): R8, 2009.
Article
in English
| MEDLINE | ID: mdl-19200354
17.
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
BMC Cancer
; 9: 211, 2009 Jun 29.
Article
in English
| MEDLINE | ID: mdl-19563646
18.
Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome.
Eur J Endocrinol
; 180(2): K15-K19, 2019 Feb 01.
Article
in English
| MEDLINE | ID: mdl-30481156
19.
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
Eur J Hum Genet
; 26(6): 848-857, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29483665
20.
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
J Clin Endocrinol Metab
; 92(8): 3321-5, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17519308