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Page 1
Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.
Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH. Starink TM, et al. Among authors: leter em. J Am Acad Dermatol. 2012 Feb;66(2):259.e1-9. doi: 10.1016/j.jaad.2010.11.039. Epub 2011 Jul 26. J Am Acad Dermatol. 2012. PMID: 21794948
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH. Houweling AC, et al. Among authors: leter em. Br J Cancer. 2011 Dec 6;105(12):1912-9. doi: 10.1038/bjc.2011.463. Br J Cancer. 2011. PMID: 22146830 Free PMC article.
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH. Leter EM, et al. J Invest Dermatol. 2008 Jan;128(1):45-9. doi: 10.1038/sj.jid.5700959. Epub 2007 Jul 5. J Invest Dermatol. 2008. PMID: 17611575 Free article.
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB, Starink TM, Postmus PE, Coull BJ, van Steensel MA, Gille JJ. Menko FH, et al. Among authors: leter em. Fam Cancer. 2013 Sep;12(3):373-9. doi: 10.1007/s10689-012-9593-8. Fam Cancer. 2013. PMID: 23264078
Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.
Cosgun B, Reinders MGHC, van Geel M, Steijlen PM, van Hout AFW, Leter EM, van der Smagt JJ, van Hagen JM, Berger LPV, Kets CM, Wagner A, Aalfs CM, Hes FJ, van der Kolk LE, Gille JJP, Mosterd K. Cosgun B, et al. Among authors: leter em. J Am Acad Dermatol. 2020 Aug;83(2):604-607. doi: 10.1016/j.jaad.2019.07.072. Epub 2019 Jul 30. J Am Acad Dermatol. 2020. PMID: 31374299 No abstract available.
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG, van Hout AF, Cosgun B, Paulussen AD, Leter EM, Steijlen PM, Mosterd K, van Geel M, Gille JJ. Reinders MG, et al. Among authors: leter em. Mol Genet Genomic Med. 2018 May;6(3):409-415. doi: 10.1002/mgg3.380. Epub 2018 Mar 25. Mol Genet Genomic Med. 2018. PMID: 29575684 Free PMC article.
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM. Kerstjens-Frederikse WS, et al. Among authors: leter em. J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16. J Med Genet. 2013. PMID: 23592887 Free PMC article.
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
Bakhuizen JJ, Hogervorst FB, Velthuizen ME, Ruijs MW, van Engelen K, van Os TA, Gille JJ, Collée M, van den Ouweland AM, van Asperen CJ, Kets CM, Mensenkamp AR, Leter EM, Blok MJ, de Jong MM, Ausems MG. Bakhuizen JJ, et al. Among authors: leter em. Fam Cancer. 2019 Apr;18(2):273-280. doi: 10.1007/s10689-018-00118-0. Fam Cancer. 2019. PMID: 30607672
Postzygotic mosaicism in basal cell naevus syndrome.
Reinders MGHC, Boersma HJ, Leter EM, Vreeburg M, Paulussen ADC, Arits AHMM, Roemen GMJM, Speel EJM, Steijlen PM, van Geel M, Mosterd K. Reinders MGHC, et al. Among authors: leter em. Br J Dermatol. 2017 Jul;177(1):249-252. doi: 10.1111/bjd.15082. Epub 2017 Jun 6. Br J Dermatol. 2017. PMID: 27658957
29 results