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Results: 1-11 |
Results: 11
EVIDENCE FOR THE SEGREGATION OF 3 DIFFERENT MUTATED ALLELES OF THE THYROGLOBULIN GENE IN A BRAZILIAN FAMILY WITH CONGENITAL GOITER AND HYPOTHYROIDISM
Authors: TARGOVNIK HM FRECHTEL GD MENDIVE FM VONO J COCHAUX P VASSART G MEDEIROSNETO G
Citation: Hm. Targovnik et al., EVIDENCE FOR THE SEGREGATION OF 3 DIFFERENT MUTATED ALLELES OF THE THYROGLOBULIN GENE IN A BRAZILIAN FAMILY WITH CONGENITAL GOITER AND HYPOTHYROIDISM, Thyroid, 8(4), 1998, pp. 291-297
IDENTIFICATION OF A NEW THYROGLOBULIN VARIANT - A GUANINE-TO-ADENINE TRANSITION RESULTING IN THE SUBSTITUTION OF ARGININE-2510 BY GLUTAMINE
Authors: MENDIVE FM ROSSETTI LC VASSART G TARGOVNIK HM
Citation: Fm. Mendive et al., IDENTIFICATION OF A NEW THYROGLOBULIN VARIANT - A GUANINE-TO-ADENINE TRANSITION RESULTING IN THE SUBSTITUTION OF ARGININE-2510 BY GLUTAMINE, Thyroid, 7(4), 1997, pp. 587-591
A NEW POINT MUTATION (M313T) IN THE THYROID-HORMONE RECEPTOR-BETA GENE IN A PATIENT WITH RESISTANCE TO THYROID-HORMONE
Authors: DIFULVIO M CHIESA AE BARANZINI SE GRUNIEROPAPENDIECK L MASINIREPISO AM TARGOVNIK HM
Citation: M. Difulvio et al., A NEW POINT MUTATION (M313T) IN THE THYROID-HORMONE RECEPTOR-BETA GENE IN A PATIENT WITH RESISTANCE TO THYROID-HORMONE, Thyroid, 7(1), 1997, pp. 43-44
CLINICAL, PATHOLOGICAL, AND MOLECULAR STUDIES OF 2 FAMILIES WITH IODIDE ORGANIFICATION DEFECT
Authors: REGO KGM BILLERBECK AEC TARGOVNIK HM SANTOS CLS ALKMIN MG BARBOSA S CAMARGO R MEDEIROSNETO G
Citation: Kgm. Rego et al., CLINICAL, PATHOLOGICAL, AND MOLECULAR STUDIES OF 2 FAMILIES WITH IODIDE ORGANIFICATION DEFECT, Endocrine pathology, 8(1), 1997, pp. 37-47
MOLECULAR ANALYSIS OF SEX DETERMINATION IN SEX-REVERSED AND TRUE HERMAPHRODITISM
Authors: COPELLI SB BERGADA C BILLERBECK AEC GOLDBERG AC KALIL J DAMIANI D TARGOVNIK HM
Citation: Sb. Copelli et al., MOLECULAR ANALYSIS OF SEX DETERMINATION IN SEX-REVERSED AND TRUE HERMAPHRODITISM, Brazilian journal of medical and biological research, 29(6), 1996, pp. 743-748
CONGENITAL HYPOTHYROID GOITER WITH DEFICIENT THYROGLOBULIN - IDENTIFICATION OF AN ENDOPLASMIC-RETICULUM STORAGE DISEASE WITH INDUCTION OF MOLECULAR CHAPERONES
Authors: MEDEIROSNETO G KIM PS YOO SE VONO J TARGOVNIK HM CAMARGO R HOSSAIN SA ARVAN P
Citation: G. Medeirosneto et al., CONGENITAL HYPOTHYROID GOITER WITH DEFICIENT THYROGLOBULIN - IDENTIFICATION OF AN ENDOPLASMIC-RETICULUM STORAGE DISEASE WITH INDUCTION OF MOLECULAR CHAPERONES, The Journal of clinical investigation, 98(12), 1996, pp. 2838-2844
A 138-NUCLEOTIDE DELETION IN THE THYROGLOBULIN RIBONUCLEIC-ACID MESSENGER IN A CONGENITAL GOITER WITH DEFECTIVE THYROGLOBULIN SYNTHESIS
Authors: TARGOVNIK HM VONO J BILLERBECK AEC CERRONE GE VARELA V MENDIVE F WAJCHENBERG BL MEDEIROSNETO G
Citation: Hm. Targovnik et al., A 138-NUCLEOTIDE DELETION IN THE THYROGLOBULIN RIBONUCLEIC-ACID MESSENGER IN A CONGENITAL GOITER WITH DEFECTIVE THYROGLOBULIN SYNTHESIS, The Journal of clinical endocrinology and metabolism, 80(11), 1995, pp. 3356-3360
MOLECULAR-GENETICS OF HEREDITARY THYROID-DISEASES DUE TO A DEFECT IN THE THYROGLOBULIN OR THYROPEROXIDASE SYNTHESIS
Authors: TARGOVNIK HM VARELA V FRECHTEL GD CERRONE GE COPELLI SB PROPATO FV MENDIVE F
Citation: Hm. Targovnik et al., MOLECULAR-GENETICS OF HEREDITARY THYROID-DISEASES DUE TO A DEFECT IN THE THYROGLOBULIN OR THYROPEROXIDASE SYNTHESIS, Brazilian journal of medical and biological research, 27(12), 1994, pp. 2745-2757
DEFECTIVE ORGANIFICATION OF IODIDE CAUSING HEREDITARY GOITROUS HYPOTHYROIDISM
Authors: MEDEIROSNETO GA BILLERBECK AEC WAJCHENBERG BL TARGOVNIK HM
Citation: Ga. Medeirosneto et al., DEFECTIVE ORGANIFICATION OF IODIDE CAUSING HEREDITARY GOITROUS HYPOTHYROIDISM, Thyroid, 3(2), 1993, pp. 143-159
HUMAN THYROID-TISSUE DO NOT EXPRESS THYROALBUMIN
Authors: TARGOVNIK HM FRECHTEL GD VARELA V WAJCHENBERG BL VASSART G DUMONT J MEDEIROSNETO GA
Citation: Hm. Targovnik et al., HUMAN THYROID-TISSUE DO NOT EXPRESS THYROALBUMIN, Journal of endocrinological investigation, 16(6), 1993, pp. 415-419
A NONSENSE MUTATION CAUSES HUMAN HEREDITARY CONGENITAL GOITER WITH PREFERENTIAL PRODUCTION OF A 171-NUCLEOTIDE-DELETED THYROGLOBULIN RIBONUCLEIC-ACID MESSENGER
Authors: TARGOVNIK HM MEDEIROSNETO G VARELA V COCHAUX P WAJCHENBERG BL VASSART G
Citation: Hm. Targovnik et al., A NONSENSE MUTATION CAUSES HUMAN HEREDITARY CONGENITAL GOITER WITH PREFERENTIAL PRODUCTION OF A 171-NUCLEOTIDE-DELETED THYROGLOBULIN RIBONUCLEIC-ACID MESSENGER, The Journal of clinical endocrinology and metabolism, 77(1), 1993, pp. 210-215
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