Detalles de la búsqueda
1.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(4): 317-326, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36849229
2.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
J Hum Genet
; 68(4): 273-279, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36599954
3.
Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation.
J Genet Couns
; 2023 Aug 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37605508
4.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Am J Obstet Gynecol
; 225(1): 51.e1-51.e17, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33493488
5.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
J Med Genet
; 56(2): 53-62, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30415209
6.
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS Genet
; 13(5): e1006765, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28531214
7.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med
; 18(4): 405-9, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26110232
8.
Diagnosis and Management of Hereditary Renal Cell Cancer.
Recent Results Cancer Res
; 205: 85-104, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27075350
9.
Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives.
J Genet Couns
; 25(6): 1179-1187, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27103421
10.
Birt-Hogg-Dube syndrome is a novel ciliopathy.
Hum Mol Genet
; 22(21): 4383-97, 2013 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23784378
11.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
J Med Genet
; 51(1): 55-60, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24253443
12.
Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives.
Int J Behav Med
; 22(4): 551-60, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25515913
13.
The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: a hypothesis.
Respirology
; 19(8): 1248-50, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25302759
14.
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
BMC Pediatr
; 14: 171, 2014 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24994497
15.
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment.
Psychooncology
; 22(5): 1167-76, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22777929
16.
The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters.
Psychooncology
; 22(4): 902-10, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22740372
17.
The effectiveness of a graphical presentation in addition to a frequency format in the context of familial breast cancer risk communication: a multicenter controlled trial.
BMC Med Inform Decis Mak
; 13: 55, 2013 Apr 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-23627498
18.
Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result.
Psychooncology
; 21(1): 29-42, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21072753
19.
Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.
J Am Acad Dermatol
; 66(2): 259.e1-9, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21794948
20.
Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation.
Crit Rev Oncol Hematol
; 176: 103642, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35257886