Search Results - "Wohllk, N"

Reproducibility and performance of one or two samples of salivary cortisol in the diagnosis of Cushing’s syndrome using an automated immunoassay system by Carrasco, C. A., García, M., Goycoolea, M., Cerda, J., Bertherat, J., Padilla, O., Meza, D., Wohllk, N., Quiroga, T.

“…The purpose of this article is to evaluate the variability and reproducibility of late night salivary cortisol (LNSC) using electrochemiluminescence…”
Get full text

Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma by WOHLLK, N, COTE, G. J, BUGALHO, M. M. J, ORDONEZ, N, EVANS, D. B, GOEPFERT, H, KHORANA, S, SCHULTZ, P, RICHARDS, C. S, GAGEL, R. F

“…Analysis of peripheral blood or tumor DNA samples from 101 patients with apparent sporadic medullary thyroid carcinoma (MTC) was performed to assess the…”
Get full text

Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation by Milos, Ioana N, Frank-Raue, Karin, Wohllk, Nelson, Maia, Ana Luiza, Pusiol, Eduardo, Patocs, Attila, Robledo, Mercedes, Biarnes, Josefina, Barontini, Marta, Links, Thera P, de Groot, Jan Willem, Dvorakova, Sarka, Peczkowska, Mariola, Rybicki, Lisa A, Sullivan, Maren, Raue, Friedhelm, Zosin, Ioana, Eng, Charis, Neumann, Hartmut P H

“…RET testing in multiple endocrine neoplasia type 2 for molecular diagnosis is the paradigm for the practice of clinical cancer genetics. However, precise data…”
Get full text

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy by THOMAS, P. M, WOHLLK, N, HUANG, E, KUHNLE, U, RABL, W, GAGEL, R. F, COTE, G. J

“…Familial persistent hyperinsulinemic hypoglycemia of infancy is a disorder of glucose homeostasis and is characterized by unregulated insulin secretion and…”
Get full text

Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2 by Wohllk, N, Cote, G J, Evans, D B, Goepfert, H, Ordonez, N G, Gagel, R F

“…Application of RET proto-oncogene mutation analysis to the clinical management of MEN 2 and FMTC has simplified and enhanced the power of earlier used…”
Get more information

Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy by Thomas, Pamela M., Cote, Gilbert J., Wohllk, Nelson, Haddad, Bassem, Mathew, P. M., Rabl, Wolfgang, Aguilar-Bryan, Lydia, Gagel, Robert F., Bryan, Joseph

“…Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked…”
Get full text

The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy by Thomas, P M, Cote, G J, Wohllk, N, Mathew, P M, Gagel, R F

“…Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a glucose metabolism disorder in neonates characterized by inappropriate insulin…”
Get more information

Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma by Wohllk, N, Cote, G J, Bugalho, M M, Ordonez, N, Evans, D B, Goepfert, H, Khorana, S, Schultz, P, Richards, C S, Gagel, R F

Get full text

Multiple paragangliomas associated to a SDHB gene mutation: report of one case by Díaz, René E, Utreras, Carlos, Ascuí, Rodrigo, Hidalgo, Fernando, Véliz, Jesús, Wohllk, Nelson

“…Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple…”
Get full text

Novel Intronic Mutation of MEN1 Gene Causing Familial Isolated Primary Hyperparathyroidism by Carrasco, Carmen A., González, Alexis A., Carvajal, Cristian A., Campusano, Claudia, Oestreicher, Eveline, Arteaga, Eugenio, Wohllk, Nelson, Fardella, Carlos E.

“…Primary hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A),…”
Get full text

RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma by Cote, Gilbert J., Wohllk, Nelson, Evans, Douglas, Goepfert, Helmuth, Gagel, Robert F.

“…The identification of RET proto-oncogene mutations in patients with MEN2 2 years ago was a watershed event in the management of this genetic cancer syndrome…”
Get full text

G691S, L769L and S836S ret proto-oncogene polymorphisms are not associated with higher risk to sporadic medullary thyroid carcinoma in Chilean patients by Wohllk G, Nelson, Soto C, Emiliano, Bravo A, Maritza, Becker C, Pedro

“…Medullary thyroid carcinoma (MTC) may occur either as sporadic or as hereditary. Even though the sporadic form corresponds to the majority of cases, the…”
Get full text

Intrathyroidal lymphocytes in autoimmune thyroid diseases by Aguayo, J, Wohlik, N, Baeza, A, Carrasco, A M, Pineda, G

“…Aiming to assess the autoimmune origin of certain thyroid diseases, we studied the phenotypic composition and the ability of intrathyroidal lymphocytes to a…”
Get more information

HFE gene mutations in Chile by Wohllk, Nelson, Zapata, Rodrigo, Acuña, Mónica, Reyes, Humberto, Navarro, Alex, Roa, Iván, Roa, Juan Carlos

Get full text

Consensus report on the diagnosis and management of non palpable thyroid nodules by Campusano, Claudia M, Bello, Fernando M, González, Renato E, Lam, José E, Liberman, Claudio G, Munizaga, Fernando C, Sapunar, Jorge Z, Wohllk, Nelson G

“…With the availability of new diagnostic techniques, numerous alterations are found, whose real importance for health is uncertain. The term <>, is used for non…”
Get full text

Treatment of diffuse hyperthyroid goiter with radioiodine: influence of propylthiouracil pretreatment by Véliz, J, Pineda, G, Arancibia, P, Wohllk, N

“…To stabilize Graves disease and deplete the preformed hormone, the use of antithyroid drugs prior 131I therapy has been suggested, specially in those patients…”
Get full text

Multiple endocrine neoplasia: a clinical model for applying molecular genetic techniques by Wohllk, N, Becker, P, Véliz, J, Pineda, G

“…Multiple endocrine neoplasias (MEN) are syndromes inherited as autosomal dominant. The application of the techniques of molecular biology has made possible the…”
Get full text

Germline mutations of the ret proto-oncogene in Chilean patients with hereditary and sporadic medullary thyroid carcinoma by Wohllk, N, Becker, P, Youlton, R, Cote, G J, Gagel, R F

“…Medullary thyroid carcinoma (MTC) may occur either as a sporadic or familial disease. Multiple endocrine neoplasia (MEN) type 2, inherited as an autosomal…”
Get full text

A Human Succinate-Ubiquinone Oxidoreductase CII-3 Subunit Gene Ending in a Polymorphic Dinucleotide Repeat Is Located within the Sulfonylurea Receptor (SUR) Gene by Wohllk, Nelson, Thomas, Pamela M., Huang, Eileen, Cote, Gilbert J.

“…We report the cloning of two variant genes encoding the CII-3 subunit of succinate-ubiquinone oxidoreductase complex II. One gene is located within intron 10…”
Get full text

Determination of antibody antireceptor of TSH, experience in patients with thyroid disorders and controls by Aguayo, J, Wohllk, N, Pineda, G

“…In order to measure TSH receptor antibodies (TRAb) we tried to set up a radioreceptor assay using human thyroid membranes. Due to lack of appropriate binding…”
Get more information