Kidney malformations and Hirschsprung’s disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene

Author:

Machens AndreasORCID,Lorenz Kerstin,Dralle Henning

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference18 articles.

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2. A. Machens, P. Niccoli-Sire, J. Hoegel, K. Frank-Raue, T.J. van Vroonhoven, H.D. Roeher, R.A. Wahl, P. Lamesch, F. Raue, B. Conte-Devolx, H. Dralle, European Multiple Endocrine Neoplasia (EUROMEN) Study Group, Early malignant progression of hereditary medullary thyroid cancer. N. Engl. J. Med. 349, 1517–1525 (2003)

3. A. Machens, K. Lorenz, F. Weber, H. Dralle, Genotype-specific progression of hereditary medullary thyroid cancer. Hum. Mutat. 39, 860–869 (2018)

4. I. Schuffenecker, M. Virally-Monod, R. Brohet, D. Goldgar, B. Conte-Devolx, L. Leclerc, O. Chabre, A. Boneu, J. Caron, C. Houdent, E. Modigliani, V. Rohmer, M. Schlumberger, C. Eng, P.J. Guillausseau, G.M. Lenoir, Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D’etude des Tumeurs à Calcitonine. J. Clin. Endocrinol. Metab. 83, 487–491 (1998)

5. K. Frank-Raue, L.A. Rybicki, Z. Erlic, H. Schweizer, A. Winter, I. Milos, S.P. Toledo, R.A. Toledo, M.R. Tavares, M. Alevizaki, C. Mian, H. Siggelkow, M. Hüfner, N. Wohllk, G. Opocher, S. Dvořáková, B. Bendlova, M. Czetwertynska, E. Skasko, M. Barontini, G. Sanso, C. Vorländer, A.L. Maia, A. Patocs, T.P. Links, J.W. de Groot, M.N. Kerstens, G.V. Valk, K. Miehle, T.J. Musholt, J. Biarnes, S. Damjanovic, M. Muresan, C. Wüster, M. Fassnacht, M. Peczkowska, C. Fauth, H. Golcher, M.A. Walter, J. Pichl, F. Raue, C. Eng, H.P. Neumann, International RET Exon 10 Consortium, Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum. Mutat. 32, 51–58 (2011)

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