Výsledky vyhledávání - "T. Stelwagen"

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Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases

Autor: R. M. W. Hofstra, T. Stelwagen, A. Vermey, D. de Jong, A.M. van den Berg, Willemina M. Molenaar, R.M. Landsvater, Cornelis J.M. Lips, Rein P. Stulp, E. J. Kamsteeg, Mmf Hulsbeek, Charles H.C.M. Buys

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 81(8), 2881-2884. ENDOCRINE SOC

Sporadic medullary thyroid carcinoma (MTC) and pheochromocytoma (PC) have been reported to be associated with some specific RET gene mutations. To assess the role of RET in the development of MTC and PC, we screened 14 sporadic MTC, two MTC-derived c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3444d40eb2858d56e038121cb19c34
https://research.rug.nl/en/publications/737e282f-8505-4876-9e07-230a9f2ddf94

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RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidoses associated with multiple endocrine neoplasia

Autor: R. M. W. Hofstra, Peter M. Steijlen, P. C. Van Voorst Vader, Rolf H. Sijmons, Rein P. Stulp, Charles H.C.M. Buys, B. G. Kousseff, Cornelis J.M. Lips, T. Stelwagen

Publikováno v: Journal of Investigative Dermatology, 107, pp. 215-218
Journal of Investigative Dermatology, 107, 215-218
Scopus-Elsevier
Journal of Investigative Dermatology, 107, 2, pp. 215-218
Journal of Investigative Dermatology, 107(2), 215-218. ELSEVIER SCIENCE INC

In several families, multiple endocrine neoplasia type 2A (MEN 2A) has been found in association with cutaneous lichen amyloidosis. It has been debated, however, whether the skin amyloidosis found in MEN 2A families, localized exclusively in the inte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ea4831b719ea3b31b8a092672f14e0
https://hdl.handle.net/2066/189056

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No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma

Autor: Rein P. Stulp, Robert M.W. Hofstra, N C Cheng, Niels Tommerup, Claus Hansen, Niels Clausen, Rogier Versteeg, Andries Westerveld, T. Stelwagen, Charles H.C.M. Buys, Huib N. Caron

Publikováno v: Human Genetics. 97:362-364

Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing mice suggest that the proto-oncogene RET plays a role in neurocrest differentiation. In hum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75fdbec83297cc1d74a8fb8d7c010d8b
https://doi.org/10.1007/bf02185773

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A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Autor: Cornells J. M. Lips, Hans Kristian Ploos van Amstel, T. Stelwagen, Jo W.M. Höppener, Giovanni Romeo, Isabella Ceccherini, R.M. Landsvater, Yin Luo, Robert M. W. Hofstra, Charles H.C.M. Buys, Rein P. Stulp, Barbara Pasini

Publikováno v: Nature, 367(6461), 375-376. Nature Publishing Group
Scopus-Elsevier

MULTIPLE endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly inherited cancer syndromes. MEN 2A patients develop medullary thyroid carcinoma (MTC) and phaeochromocytoma. MEN 2B patients show in addition ganglioneuromas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b93f5fc587eb47d5012d886e880afe
https://research.rug.nl/en/publications/5ce22ae6-b7bc-494c-8852-b128745b479c

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