Primary congenital Hypothyroidism

被引：1
作者：
Baumgartner-Parzer, Sabina [1 ]
机构：
[1] Med Univ Wien, Univ Klin Innere Med 3, Wahringer Gurtel 18-20, A-1090 Vienna, Austria
来源：
AUSTRIAN JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM | 2019年 / 12卷 / 02期
关键词：
CAUSATIVE GENES; MUTATIONS; PAX8; MANAGEMENT;
D O I：
10.1007/s41969-019-0068-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：70 / 72
页数：3
相关论文
共 16 条
  • [1] Mutations in BOREALIN cause thyroid dysgenesis
    Carre, Aurore
    Stoupa, Athanasia
    Kariyawasam, Dulanjalee
    Gueriouz, Manelle
    Ramond, Cyrille
    Monus, Taylor
    Leger, Juliane
    Gaujoux, Sebastien
    Sebag, Frederic
    Glaser, Nicolas
    Zenaty, Delphine
    Nitschke, Patrick
    Bole-Feysot, Christine
    Hubert, Laurence
    Lyonnet, Stanislas
    Scharfmann, Raphael
    Munnich, Arnold
    Besmond, Claude
    Taylor, William
    Polak, Michel
    [J]. HUMAN MOLECULAR GENETICS, 2017, 26 (03) : 599 - 610
  • [2] Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
    Carre, Aurore
    Szinnai, Gabor
    Castanet, Mireille
    Sura-Trueba, Sylvia
    Tron, Elodie
    Broutin-L'Hermite, Isabelle
    Barat, Pascal
    Goizet, Cyril
    Lacombe, Didier
    Moutard, Marie-Laure
    Raybaud, Christine
    Raynaud-Ravni, Catherine
    Romana, Serge
    Ythier, Hubert
    Leger, Juliane
    Polak, Michel
    [J]. HUMAN MOLECULAR GENETICS, 2009, 18 (12) : 2266 - 2276
  • [3] A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract
    Carvalho, Ana
    Hermanns, Pia
    Rodrigues, Ana-Luisa
    Sousa, Isabel
    Anselmo, Joao
    Bikker, Hennie
    Cabral, Rita
    Pereira-Duarte, Carlos
    Mota-Vieira, Luisa
    Pohlenz, Joachim
    [J]. THYROID, 2013, 23 (09) : 1074 - 1078
  • [4] Cherella CE, 2017, INT J PEDIATR ENDOCR, DOI 10.1186/s13633-017-0051-0
  • [5] A frequent oligogenic involvement in congenital hypothyroidism
    de Filippis, Tiziana
    Gelmini, Giulia
    Paraboschi, Elvezia
    Vigone, Maria Cristina
    Di Frenna, Marianna
    Marelli, Federica
    Bonomi, Marco
    Cassio, Alessandra
    Larizza, Daniela
    Moro, Mirella
    Radetti, Giorgio
    Salerno, Mariacarolina
    Ardissino, Diego
    Weber, Giovanna
    Gentilini, Davide
    Guizzardi, Fabiana
    Duga, Stefano
    Persani, Luca
    [J]. HUMAN MOLECULAR GENETICS, 2017, 26 (13) : 2507 - 2514
  • [6] Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism
    Fan, Xin
    Fu, Chunyun
    Shen, Yiping
    Li, Chuan
    Luo, Shiyu
    Li, Qifei
    Luo, Jingsi
    Su, Jiasun
    Zhang, Shujie
    Hu, Xuyun
    Chen, Rongyu
    Gu, Xuefan
    Chen, Shaoke
    [J]. CLINICA CHIMICA ACTA, 2017, 468 : 76 - 80
  • [7] Detection and treatment of congenital hypothyroidism
    Grueters, Annette
    Krude, Heiko
    [J]. NATURE REVIEWS ENDOCRINOLOGY, 2012, 8 (02) : 104 - 113
  • [8] European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
    Leger, Juliane
    Olivieri, Antonella
    Donaldson, Malcolm
    Torresani, Toni
    Krude, Heiko
    van Vliet, Guy
    Polak, Michel
    Butler, Gary
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (02) : 363 - 384
  • [9] Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ
    Nicholas, Adeline K.
    Serra, Eva G.
    Cangul, Hakan
    Alyaarubi, Saif
    Ullah, Irfan
    Schoenmakers, Erik
    Deeb, Asma
    Habeb, Abdelhadi M.
    Almaghamsi, Mohammad
    Peters, Catherine
    Nathwani, Nisha
    Aycan, Zehra
    Saglam, Halil
    Bober, Ece
    Dattani, Mehul
    Shenoy, Savitha
    Murray, Philip G.
    Babiker, Amir
    Willemsen, Ruben
    Thankamony, Ajay
    Lyons, Greta
    Irwin, Rachael
    Padidela, Raja
    Tharian, Kavitha
    Davies, Justin H.
    Puthi, Vijith
    Park, Soo-Mi
    Massoud, Ahmed F.
    Gregory, John W.
    Albanese, Assunta
    Pease-Gevers, Evelien
    Martin, Howard
    Brugger, Kim
    Maher, Eamonn R.
    Chatterjee, V. Krishna K.
    Anderson, Carl A.
    Schoenmakers, Nadia
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (12) : 4521 - 4531
  • [10] DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population
    Park, Kyoung-Jin
    Park, Hyun-Kyung
    Kim, Young-Jin
    Lee, Kyoung-Ryul
    Park, Jong-Ho
    Park, June-Hee
    Park, Hyung-Doo
    Lee, Soo-Youn
    Kim, Jong-Won
    [J]. ANNALS OF LABORATORY MEDICINE, 2016, 36 (02) : 145 - 153
12