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PubMed (cited) for id: 300137

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Page 1
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. Roche EF, et al. Clin Endocrinol (Oxf). 2018 Dec;89(6):813-823. doi: 10.1111/cen.13827. Epub 2018 Oct 1. Clin Endocrinol (Oxf). 2018. PMID: 30086211 Free PMC article.
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. Sun Y, et al. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
Normal reproductive function in InhBP/p120-deficient mice.
Bernard DJ, Burns KH, Haupt B, Matzuk MM, Woodruff TK. Bernard DJ, et al. Mol Cell Biol. 2003 Jul;23(14):4882-91. doi: 10.1128/MCB.23.14.4882-4891.2003. Mol Cell Biol. 2003. PMID: 12832474 Free PMC article.
Computer gene mapping by Eagl-based STSs.
Frattini A, Faranda S, Vezzoni P. Frattini A, et al. Genomics. 1996 Nov 15;38(1):87-91. doi: 10.1006/geno.1996.0597. Genomics. 1996. PMID: 8954785