Tineke Stelwagen

Tineke Stelwagen

Adepartments Of Nephrology And Bimmunochemistry, State University Hospital, Groningen, The Netherlands

Direct Impact

Concepts for which Tineke Stelwagen has direct influence:

ret proto-oncogene
skin amyloidosis
20 exons
sporadic medullary thyroid carcinoma
dna polymorphisms
endocrine neoplasia
extensive mutation

Prominent publications by Tineke Stelwagen

KOL-Index: 13 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. ...
Known for
Met918--Thr Mutation | 14 Sporadic Mtc | Vhl Gene | Hippel Lindau
KOL-Index: 10 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 ...
Known for
Amyloidosis Families | Ret Mutations | Mutation Screening | Interscapular Area
KOL-Index: 8 Recently identified mutations affecting different domains of the RET proto-oncogene are associated with Multiple Endocrine Neoplasia type 2A (MEN 2A) and type 2B (MEN 2B), familial and sporadic Medullary Thyroid Carcinomas (MTC) and Hirschsprung disease (HSCR). In order to facilitate the screening for RET mutations, and to study possible genotype-phenotype correlations, we established ...
Known for
Conditions Sscp | Proto Oncogene | Exons Ret
KOL-Index: 7 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 ...
Known for
Phaeochromocytoma | Addition Ganglioneuromas | Skeletal Abnormalities | Transition Point
KOL-Index: 6
Known for
Angiotensin-Converting Enzyme Inhibition1
KOL-Index: 4 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 ...
Known for
Sscp | Single-Strand Conformation Polymorphism | 16 Neuroblastoma Lines | Proto-Oncogeneret

aDepartments of Nephrology and bImmunochemistry, State University Hospital, Groningen, The Netherlands

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