BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 25354429)

  • 1. IGSF1 variants in boys with familial delayed puberty.
    Joustra SD; Wehkalampi K; Oostdijk W; Biermasz NR; Howard S; Silander TL; Bernard DJ; Wit JM; Dunkel L; Losekoot M
    Eur J Pediatr; 2015 May; 174(5):687-92. PubMed ID: 25354429
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying
    Elizabeth MSM; Hokken-Koelega A; Visser JA; Joustra SD; de Graaff LCG
    Genes (Basel); 2022 Mar; 13(4):. PubMed ID: 35456429
    [TBL] [Abstract][Full Text] [Related]  

  • 3. IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
    Joustra SD; Heinen CA; Schoenmakers N; Bonomi M; Ballieux BE; Turgeon MO; Bernard DJ; Fliers E; van Trotsenburg AS; Losekoot M; Persani L; Wit JM; Biermasz NR; Pereira AM; Oostdijk W;
    J Clin Endocrinol Metab; 2016 Apr; 101(4):1627-36. PubMed ID: 26840047
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The IGSF1 deficiency syndrome: characteristics of male and female patients.
    Joustra SD; Schoenmakers N; Persani L; Campi I; Bonomi M; Radetti G; Beck-Peccoz P; Zhu H; Davis TM; Sun Y; Corssmit EP; Appelman-Dijkstra NM; Heinen CA; Pereira AM; Varewijck AJ; Janssen JA; Endert E; Hennekam RC; Lombardi MP; Mannens MM; Bak B; Bernard DJ; Breuning MH; Chatterjee K; Dattani MT; Oostdijk W; Biermasz NR; Wit JM; van Trotsenburg AS
    J Clin Endocrinol Metab; 2013 Dec; 98(12):4942-52. PubMed ID: 24108313
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.
    Joustra SD; van Trotsenburg AS; Sun Y; Losekoot M; Bernard DJ; Biermasz NR; Oostdijk W; Wit JM
    Rare Dis; 2013; 1():e24883. PubMed ID: 25002994
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat.
    Joustra SD; Meijer OC; Heinen CA; Mol IM; Laghmani el H; Sengers RM; Carreno G; van Trotsenburg AS; Biermasz NR; Bernard DJ; Wit JM; Oostdijk W; van Pelt AM; Hamer G; Wagenaar GT
    J Endocrinol; 2015 Sep; 226(3):181-91. PubMed ID: 26163525
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
    Ghanny S; Zidell A; Pedro H; Joustra SD; Losekoot M; Wit JM; Aisenberg J
    J Clin Res Pediatr Endocrinol; 2021 Nov; 13(4):461-467. PubMed ID: 33045800
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome.
    Joustra SD; Roelfsema F; Endert E; Ballieux BE; van Trotsenburg AS; Fliers E; Corssmit EP; Bernard DJ; Oostdijk W; Wit JM; Pereira AM; Biermasz NR
    Neuroendocrinology; 2016; 103(3-4):408-16. PubMed ID: 26336917
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Is IGSF1 involved in human pituitary tumor formation?
    Faucz FR; Horvath AD; Azevedo MF; Levy I; Bak B; Wang Y; Xekouki P; Szarek E; Gourgari E; Manning AD; de Alexandre RB; Saloustros E; Trivellin G; Lodish M; Hofman P; Anderson YC; Holdaway I; Oldfield E; Chittiboina P; Nesterova M; Biermasz NR; Wit JM; Bernard DJ; Stratakis CA
    Endocr Relat Cancer; 2015 Feb; 22(1):47-54. PubMed ID: 25527509
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein.
    Wang Y; Brûlé E; Silander T; Bak B; Joustra SD; Bernard DJ
    PLoS One; 2017; 12(7):e0180731. PubMed ID: 28686733
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene : Case Series of three patients.
    MacGloin H; Schoenmakers N; Moorwood C; Buchanan CR; Arya VB
    Horm Res Paediatr; 2024 Jan; ():. PubMed ID: 38295770
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.