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Journal Abstract Search

98 related items for PubMed ID: 28659543

  • 1. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
    Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M.
    Endocr J; 2017 Aug 30; 64(8):813-817. PubMed ID: 28659543
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  • 2. A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
    Takagi M, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.
    Horm Res Paediatr; 2014 Aug 30; 81(2):133-8. PubMed ID: 24457197
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  • 3. Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
    Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M.
    Fertil Steril; 2014 Oct 30; 102(4):1130-1136.e3. PubMed ID: 25064402
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  • 7. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
    Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV.
    Eur J Hum Genet; 2011 Jul 30; 19(7):753-6. PubMed ID: 21326281
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  • 9. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
    Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.
    Br J Ophthalmol; 2007 Nov 30; 91(11):1471-6. PubMed ID: 17522144
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  • 10. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
    Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV.
    Mol Vis; 2010 Apr 28; 16():768-73. PubMed ID: 20454695
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  • 11. A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss.
    Zhang Y, Zhang X, Long R, Yu L.
    J Genet; 2018 Sep 28; 97(4):1007-1011. PubMed ID: 30262714
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  • 12. Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
    Cassin J, Stamou MI, Keefe KW, Sung KE, Bojo CC, Tonsfeldt KJ, Rojas RA, Ferreira Lopes V, Plummer L, Salnikov KB, Keefe DL, Ozata M, Genel M, Georgopoulos NA, Hall JE, Crowley WF, Seminara SB, Mellon PL, Balasubramanian R.
    JCI Insight; 2023 Feb 08; 8(3):. PubMed ID: 36602867
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  • 13. Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.
    Ramirez-Botero AF, Pachajoa H.
    Congenit Anom (Kyoto); 2016 Nov 08; 56(6):250-252. PubMed ID: 27206652
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  • 16. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
    Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV.
    Am J Med Genet A; 2009 Dec 08; 149A(12):2706-15. PubMed ID: 19921648
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  • 17. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.
    Demirbilek H, Ozbek MN, Demir K, Kotan LD, Cesur Y, Dogan M, Temiz F, Mengen E, Gurbuz F, Yuksel B, Topaloglu AK.
    Clin Endocrinol (Oxf); 2015 Mar 08; 82(3):429-38. PubMed ID: 25262569
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  • 18. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.
    Br J Ophthalmol; 2010 Aug 08; 94(8):1100-4. PubMed ID: 20494911
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