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Journal of Medical Genetics|June 5, 2010
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancerMichael S Nahorski, Derek H K Lim, Lynn Martin, et al.
Human Mutation|October 6, 2009
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim, Pauline K Rehal, Michael S Nahorski, et al.
BMC Pediatrics|July 5, 2014
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patientsPaul C Johannesma, Ben E E M van den Borne, Johannes J P Gille, et al.
International Journal of Cancer|April 15, 2006
Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancerBrenda B J Hermsen, Paul J van Diest, Johannes Berkhof, et al.
Familial Cancer|November 26, 2015
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?Paul C Johannesma, Arjan C Houweling, Fred H Menko, et al.
Plos One|February 15, 2013
HIF-1α overexpression in ductal carcinoma in situ of the breast in BRCA1 and BRCA2 mutation carriersPetra van der Groep, Paul J van Diest, Yvonne H C M Smolders, et al.
Journal of Medical Genetics|November 12, 2018
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancyManon Suerink, Tim Ripperger, Ludwine Messiaen, et al.
BMC Medical Genetics|January 13, 2006
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytomaJean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, et al.
Critical Reviews in Oncology/Hematology|March 8, 2022
Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluationFred H Menko, Kim Monkhorst, Frans B L Hogervorst, et al.
Hereditary Cancer in Clinical Practice|August 14, 2010
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndromeEls van Riel, Margreet Gem Ausems, Frans Bl Hogervorst, et al.
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