Department of Medical Genetics, University of Groningen, Ant. Deusinglaan 4, 9713 AW, Groningen, The Netherlands | Department of Medical Genetics, University of Groningen, The ...
KOL Resume for Tineke Stelwagen
Department of Medical Genetics, University of Groningen, Ant. Deusinglaan 4, 9713 AW, Groningen, The Netherlands
aDepartments of Nephrology and bImmunochemistry, State University Hospital, Groningen, The Netherlands
Tineke Stelwagen: Influence Statistics
|ret mutation screening||#4|
|mutation characteristic 2a||#5|
|ret hippel lindau||#5|
|suppressor proteins ret||#5|
|ret sporadic cases||#5|
|extensive mutation scanning||#5|
|mutations unidentified genes||#5|
|mtcderived cell lines||#5|
|2a families conditions||#5|
|5 sporatic cases||#5|
|sporadic mtc mutations||#5|
|mutation skin amyloidosis||#5|
|14 sporadic mtc||#5|
|2a cancer syndrome||#5|
|skin amyloidosis germline||#5|
|vhl suppressor proteins||#5|
|anomaly 2a families||#5|
|unidentified genes ret||#5|
|vhl sporadic pheochromocytoma||#8|
|neutral polymorphisms patient||#9|
|clear expression ofret||#9|
|byret mutation neuroblastoma||#9|
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Prominent publications by Tineke Stelwagen
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
[ PUBLICATION ]
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 cell lines, and 5 sporatic PC cases of RET mutations by a systematic analysis of the whole coding sequence, including all intron-exon junctions. In only 6 of the 14 sporadic MTC we were able to detect a RET mutation. Apart from the ...
|Known for Sporadic Pheochromocytoma | Suppressor Proteins | Ret Mutations | Medullary Thyroid | Genes Tumor|
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
[ PUBLICATION ]
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 of the gastrointestinal tract and skeletal abnormalities. In familial MTC, only the thyroid is affected. Germ-line mutations of the RET proto-oncogene have recently been reported in association with MEN 2A and familial MTC1,2. All mutations ...
|Known for Multiple Endocrine | Sporadic Medullary Thyroid | Ret Proto | 2b Mutation | Type 2|
RET Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia
[ PUBLICATION ]
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 interscapular area, represents the same anomaly as that found in autosomal dominant familial cutaneous lichen amyloidosis, which is more generalized. We screened two MEN 2A families with associated skin amyloidosis for germline mutations in the ...
|Known for Lichen Amyloidosis | Multiple Endocrine | Ret Mutation | Families 2a | Neoplasia Type|
Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing mice suggest that the proto-oncogeneRET plays a role in neurocrest differentiation. In humans expression ofRET is limited to certain tumor types, including neuroblastoma, that derive from migrating neural crest cells. Mutations ofRET are found associated with Hirschsprung disease. These data prompted us to investigate expression ...
|Known for Hirschsprung Disease | Ret Mutations | Proto Oncogene | Proteins Humans | Protein Tyrosine|
|Known for Converting Enzyme | Adult Angiotensin | Enalapril Female | Lisinopril Male|
Key People For Sscp Analysis
Tineke Stelwagen:Expert Impact
Concepts for whichTineke Stelwagenhas direct influence:Sscp analysis, 20 exons, Sporadic pheochromocytoma, Multiple endocrine, Ret sporadic cases, Suppressor proteins ret, Skin amyloidosis, Cutaneous lichen amyloidosis.
Tineke Stelwagen:KOL impact
Concepts related to the work of other authors for whichfor which Tineke Stelwagen has influence:Multiple endocrine, Neoplasia type, Medullary thyroid carcinoma, Ret proto, Thyroid cancer, Hirschsprung disease, Oncogene proteins.
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