BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 23363888)

  • 1. A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.
    Tajima T; Nakamura A; Ishizu K
    Endocr J; 2013; 60(2):245-9. PubMed ID: 23363888
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
    Tenenbaum-Rakover Y; Turgeon MO; London S; Hermanns P; Pohlenz J; Bernard DJ; Bercovich D
    Thyroid; 2016 Dec; 26(12):1693-1700. PubMed ID: 27310681
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.
    Nakamura A; Bak B; Silander TL; Lam J; Hotsubo T; Yorifuji T; Ishizu K; Bernard DJ; Tajima T
    J Clin Endocrinol Metab; 2013 Oct; 98(10):E1682-91. PubMed ID: 23966245
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.
    Nishigaki S; Hamazaki T; Fujita K; Morikawa S; Tajima T; Shintaku H
    Thyroid; 2016 Dec; 26(12):1701-1705. PubMed ID: 27762734
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.
    Shibata N; Numakura C; Hamajima T; Miyako K; Fujiwara I; Mori J; Saitoh A; Nagasaki K
    Endocr J; 2024 May; 71(5):471-480. PubMed ID: 38462462
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
    Sugisawa C; Takamizawa T; Abe K; Hasegawa T; Shiga K; Sugawara H; Ohsugi K; Muroya K; Asakura Y; Adachi M; Daitsu T; Numakura C; Koike A; Tsubaki J; Kitsuda K; Matsuura N; Taniyama M; Ishii S; Satoh T; Yamada M; Narumi S
    J Clin Endocrinol Metab; 2019 Dec; 104(12):6229-6237. PubMed ID: 31504637
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
    García M; Barrio R; García-Lavandeira M; Garcia-Rendueles AR; Escudero A; Díaz-Rodríguez E; Gorbenko Del Blanco D; Fernández A; de Rijke YB; Vallespín E; Nevado J; Lapunzina P; Matre V; Hinkle PM; Hokken-Koelega AC; de Miguel MP; Cameselle-Teijeiro JM; Nistal M; Alvarez CV; Moreno JC
    Sci Rep; 2017 Mar; 7():42937. PubMed ID: 28262687
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.
    Yamaguchi T; Hothubo T; Morikawa S; Nakamura A; Mori T; Tajima T
    J Pediatr Endocrinol Metab; 2018 Mar; 31(3):355-359. PubMed ID: 29425110
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
    Roche EF; McGowan A; Koulouri O; Turgeon MO; Nicholas AK; Heffernan E; El-Khairi R; Abid N; Lyons G; Halsall D; Bonomi M; Persani L; Dattani MT; Gurnell M; Bernard DJ; Schoenmakers N
    Clin Endocrinol (Oxf); 2018 Dec; 89(6):813-823. PubMed ID: 30086211
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in
    Türkkahraman D; Karataş Torun N; Randa NC
    J Clin Res Pediatr Endocrinol; 2021 Aug; 13(3):353-357. PubMed ID: 32772515
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
    Hughes JN; Aubert M; Heatlie J; Gardner A; Gecz J; Morgan T; Belsky J; Thomas PQ
    Clin Endocrinol (Oxf); 2016 Oct; 85(4):609-15. PubMed ID: 27146357
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.
    Asakura Y; Abe K; Muroya K; Hanakawa J; Oto Y; Narumi S; Hasegawa T; Adachi M
    Horm Res Paediatr; 2015; 84(5):349-54. PubMed ID: 26302767
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
    Sun Y; Bak B; Schoenmakers N; van Trotsenburg AS; Oostdijk W; Voshol P; Cambridge E; White JK; le Tissier P; Gharavy SN; Martinez-Barbera JP; Stokvis-Brantsma WH; Vulsma T; Kempers MJ; Persani L; Campi I; Bonomi M; Beck-Peccoz P; Zhu H; Davis TM; Hokken-Koelega AC; Del Blanco DG; Rangasami JJ; Ruivenkamp CA; Laros JF; Kriek M; Kant SG; Bosch CA; Biermasz NR; Appelman-Dijkstra NM; Corssmit EP; Hovens GC; Pereira AM; den Dunnen JT; Wade MG; Breuning MH; Hennekam RC; Chatterjee K; Dattani MT; Wit JM; Bernard DJ
    Nat Genet; 2012 Dec; 44(12):1375-81. PubMed ID: 23143598
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
    Fourneaux R; Castets S; Godefroy A; Grelet M; Abeillon-du Payrat J; Saveanu A; Castinetti F; Reynaud R
    Horm Res Paediatr; 2022; 95(3):296-303. PubMed ID: 35350016
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neonatal screening and a new cause of congenital central hypothyroidism.
    Tajima T; Nakamura A; Morikawa S; Ishizu K
    Ann Pediatr Endocrinol Metab; 2014 Sep; 19(3):117-21. PubMed ID: 25346914
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
    Nikolaou M; Vasilakis IA; Marinakis NM; Tilemis FN; Zellos A; Lykopoulou E; Traeger-Synodinos J; Kanaka-Gantenbein C
    Hormones (Athens); 2023 Sep; 22(3):515-520. PubMed ID: 37493943
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital isolated central hypothyroidism: Novel mutations and their functional implications.
    Boelen A; van Trotsenburg ASP; Fliers E
    Handb Clin Neurol; 2021; 180():161-169. PubMed ID: 34225927
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.
    Turgeon MO; Silander TL; Doycheva D; Liao XH; Rigden M; Ongaro L; Zhou X; Joustra SD; Wit JM; Wade MG; Heuer H; Refetoff S; Bernard DJ
    Endocrinology; 2017 Apr; 158(4):815-830. PubMed ID: 28324000
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recent advances in research on isolated congenital central hypothyroidism.
    Tajima T; Nakamura A; Oguma M; Yamazaki M
    Clin Pediatr Endocrinol; 2019; 28(3):69-79. PubMed ID: 31384098
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two siblings with congenital central hypothyroidism caused by a novel mutation in the
    Oguma M; Kobayashi M; Yamazaki M; Yokoyama K; Morikawa S; Yamaguchi T; Yamagata T; Tajima T
    Clin Pediatr Endocrinol; 2018; 27(2):95-100. PubMed ID: 29662269
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.