المؤلفون: Elisabeth H Jaspars, N.C.T. van Grieken, M. B. A. van Doorn, Edward M Leter, Ernie M.H.F. Bongers, Paul C Johannesma, Pieter E. Postmus, Lieke Gijezen, J-H T. M. van Waesberghe, Theo M. Starink, M.A.M. van Steensel, Arjan C. Houweling, Rogier A. Oldenburg, R.J.A. Van Moorselaar, Marianne A. Jonker, T. A. M. van Os, Johan J.P. Gille, K. Y. van Spaendonck-Zwarts, M. M. de Jong, Fred H. Menko

المساهمون: Stochastics, Mathematics, Human Genetics, Dermatologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Dermatology, Pathology, Pulmonary medicine, Urology, Radiology and nuclear medicine, CCA - Oncogenesis

المصدر: British Journal of Cancer, 105(12), 1912-1919. Nature Publishing Group
Houweling, A C, Gijezen, L M, Jonker, M A, van Doorn, M B A, Oldenburg, R A, van Spaendonck-Zwarts, K Y, Leter, E M, van Os, T A M, van Grieken, N C T, Jaspars, E H, de Jong, M M, Bongers, E M H F, Johannesma, P C, Postmus, P E, van Moorselaar, R J A, van Waesberghe, J H T M, Starink, T M, van Steensel, M A M, Gille, J J P & Menko, F H 2011, ' Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families ', British Journal of Cancer, vol. 105, no. 12, pp. 1912-1919 . https://doi.org/10.1038/bjc.2011.463Test
British Jounal of Cancer, 105(12), 1912-1919. Nature Publishing Group
British Journal of Cancer
British journal of cancer, 105(12), 1912-1919. Nature Publishing Group

مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Pathology, pneumothorax, discoid fibroma, fibrofolliculoma, renal cancer, folliculin, Disease, TRICHODISCOMAS, Birt–Hogg–Dubé syndrome, SDG 3 - Good Health and Well-being, GENE FLCN, Proto-Oncogene Proteins, Internal medicine, Eosinophilic, medicine, MANAGEMENT, Humans, Genetic Predisposition to Disease, Birt-Hogg-Dube syndrome, Folliculin, Aged, SPECTRUM, business.industry, Tumor Suppressor Proteins, Cancer, Genetics and Genomics, LUNG CYSTS, ADULTS, Middle Aged, CELL CARCINOMA, medicine.disease, Penetrance, TUMORS, Kidney Neoplasms, Pneumothorax, Mutation, Female, business, Clear cell

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee60ff288397312c36a9973e0efd5722Test
https://doi.org/10.1038/bjc.2011.463Test

المؤلفون: Edward M Leter, Johan J.P. Gille, Gabriëlle G Vittoz, Elisabeth H Jaspars, Fred H. Menko, Theo M. Starink, Eric F L David, A Karijn Koopmans, Pieter E. Postmus, R. Jeroen A. van Moorselaar, M. E. Craanen, Theo A. M. van Os

المساهمون: Human Genetics, Human genetics, Dermatology, Pathology, Pulmonary medicine, Urology, Gastroenterology and hepatology, CCA - Disease profiling, Radiology and nuclear medicine

المصدر: Journal of investigative dermatology, 128(1), 45-49. Nature Publishing Group
Journal of Investigative Dermatology, 128(1), 45-49. Nature Publishing Group
Leter, E M, Koopmans, A K, Gille, J J P, van Os, T A M, Vittoz, G G, David, E F, Jaspars, E H, Postmus, P E, van Moorselaar, R J A, Craanen, M E, Starink, T M & Menko, F H 2008, ' Birt-Hogg-Dube syndrome: clinical and genetic studies of 20 families ', Journal of Investigative Dermatology, vol. 128, no. 1, pp. 45-49 . https://doi.org/10.1038/sj.jid.5700959Test

مصطلحات موضوعية: Proband, Adult, Pathology, medicine.medical_specialty, Fibrofolliculoma, Dermatology, medicine.disease_cause, Birt–Hogg–Dubé syndrome, Skin Diseases, Biochemistry, Germline mutation, Proto-Oncogene Proteins, medicine, Humans, Folliculin, Molecular Biology, Germ-Line Mutation, Aged, Mutation, business.industry, Tumor Suppressor Proteins, Genodermatosis, Chromosome, Pneumothorax, Proteins, Cell Biology, Middle Aged, medicine.disease, Kidney Neoplasms, business, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5afe08ce9f47e8f891d4bee536af2ab8Test

المؤلفون: Martijn B.A. van Doorn, Johan J.P. Gille, Arjan C. Houweling, Fred H. Menko, Theo M. Starink, P.C. Johannesma, Quinten Waisfisz, R. Jeroen A. van Moorselaar, Jan Hein T.M. van Waesberghe, Martijn H. Ploeger, Piet E. Postmus, Edward M Leter, Marieke T. Kramer, Elisabeth H. Jaspars

المساهمون: Dermatology, Human genetics, Pathology, Urology, Pulmonary medicine, Radiology and nuclear medicine, CCA - Oncogenesis, ICaR - Circulation and metabolism

المصدر: Starink, T M, Houweling, A C, van Doorn, M B A, Leter, E M, Jaspars, E H, van Moorselaar, R J A, Postmus, P E, Johannesma, P C, van Waesberghe, J H T M, Ploeger, M H, Kramer, M T, Gille, J J P, Waisfisz, Q & Menko, F H 2012, ' Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dube syndrome not linked to the FLCN locus ', Journal of the American Academy of Dermatology, vol. 66, no. 2, pp. 259-263 . https://doi.org/10.1016/j.jaad.2010.11.039Test
Journal of the American Academy of Dermatology, 66(2), 259-263. Mosby Inc.

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Skin Neoplasms, Adolescent, Fibrofolliculoma, Locus (genetics), Fibroma, Dermatology, Birt–Hogg–Dubé syndrome, Germline, Birt-Hogg-Dube Syndrome, Germline mutation, Proto-Oncogene Proteins, medicine, Humans, Age of Onset, Folliculin, Child, Germ-Line Mutation, business.industry, Tumor Suppressor Proteins, Infant, Trichodiscoma, Middle Aged, medicine.disease, Pedigree, Child, Preschool, Sclerotic fibroma, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e43a99395dd3de63adb6abf5bbeb1ec7Test
https://doi.org/10.1016/j.jaad.2010.11.039Test