DEFECTIVE THYROGLOBULIN SYNTHESIS AND SECRETION CAUSING GOITER AND HYPOTHYROIDISM

被引：102
|
作者：
MEDEIROSNETO, G
TARGOVNIK, HM
VASSART, G
机构：
[1] UNIV SAO PAULO,HOSP CLIN,SCH MED,THYROID LAB,BR-05403 SAO PAULO,BRAZIL
[2] UNIV BUENOS AIRES,FAC FARM & BIOQUIM,CATEDRA GENET & BIOL MOLEC,RA-1113 BUENOS AIRES,ARGENTINA
[3] HOP ERASME,SERV GENET,B-1070 BRUSSELS,BELGIUM
[4] UNIV LIBRE BRUXELLES,INST RECH INTERDISCIPLINAIRE,B-1070 BRUSSELS,BELGIUM
来源：
ENDOCRINE REVIEWS | 1993年 / 14卷 / 02期
关键词：
D O I：
10.1210/er.14.2.165
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：165 / 183
页数：19
相关论文
共 50 条
  • [31] HYPOTHYROIDISM CAUSED BY CONGENITAL DEFECT IN THYROGLOBULIN SYNTHESIS
    SULTAN, C
    JEAN, R
    LISSITZKY, S
    MICHELBE.M
    BISMUTH, J
    PEDIATRIC RESEARCH, 1974, 8 (02) : 141 - 141
  • [32] A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
    Stern, Eve
    Schoenmakers, Nadia
    Nicholas, Adeline K.
    Kassif, Eran
    Hamiel, Orit Pinhas
    Yeshayahu, Yonatan
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2022, 14 (02) : 221 - 226
  • [33] A new familiar case of Congenital Goiter with Hypothyroidism caused by homozygous mutation in the thyroglobulin gene
    Pellizas, C.
    Sobrero, G.
    Boyanovsky, A.
    Nieva, V.
    Testa, G.
    Bazzara, L.
    Dipoi, M.
    Machiavelli, G.
    Rivolta, C.
    Targovnik, H.
    Miras, M.
    HORMONE RESEARCH, 2007, 68 : 22 - 22
  • [34] A novel mutation in the Thyroglobulin gene leading to Neonatal goiter and Congenital Hypothyroidism in an Eritrean infant
    Stern, Eve
    Kassif, Eran
    Schoenmakers, Nadia
    Gruber, Noah
    Pinhas-Hamiel, Orit
    Yeshayahu, Yonatan
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 83 - 83
  • [35] GOITER AND HYPOTHYROIDISM
    EDDY, RL
    ASTWOOD, EB
    ANNALS OF INTERNAL MEDICINE, 1968, 68 (05) : 1143 - +
  • [36] New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
    Citterio, Cintia E.
    Machiavelli, Gloria A.
    Miras, Mirta B.
    Gruneiro-Papendieck, Laura
    Lachlan, Katherine
    Sobrero, Gabriela
    Chiesa, Ana
    Walker, Joanna
    Munoz, Liliana
    Testa, Graciela
    Belforte, Fiorella S.
    Gonzalez-Sarmiento, Rogelio
    Rivolta, Carina M.
    Targovnik, Hector M.
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2013, 365 (02) : 277 - 291
  • [37] HUMAN CONGENITAL GOITER WITH IMPAIRED THYROGLOBULIN SYNTHESIS - A MOLECULAR APPROACH
    CABRER, B
    BROCAS, H
    PEREZCASTILLO, A
    VASSART, G
    ANNALES D ENDOCRINOLOGIE, 1982, 43 (03) : A33 - A33
  • [38] HYPOTHYROIDISM AND GOITER DUE TO DEFECTS IN THE INTRATHYROIDAL SYNTHESIS OF THYROXINE
    CLAYTON, GW
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1958, 236 (06): : 790 - 796
  • [39] ASSOCIATION OF GOITER AND HYPOTHYROIDISM
    CASSIDY, CE
    ASTWOOD, EB
    JOURNAL OF CLINICAL INVESTIGATION, 1955, 34 (06): : 925 - 926
  • [40] SERUM THYROGLOBULIN (TG) STIMULATION WITH BOVINE TSH - A USEFUL TEST FOR DIAGNOSIS OF CONGENITAL GOITROUS HYPOTHYROIDISM DUE TO DEFECTIVE TG SYNTHESIS
    MEDEIROSNETO, GA
    MARCONDES, JA
    CAVALIERE, H
    WAJCHENBERG, BL
    KNOBEL, M
    ACTA ENDOCRINOLOGICA, 1985, 110 (01): : 61 - 65
12345