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Journal Abstract Search

245 related items for PubMed ID: 22715480

  • 1. A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
    Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC.
    Eur J Endocrinol; 2012 Sep; 167(3):441-52. PubMed ID: 22715480
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  • 3. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
    Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K.
    J Clin Endocrinol Metab; 2009 Jan; 94(1):314-9. PubMed ID: 18854396
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  • 9. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.
    Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T.
    J Clin Endocrinol Metab; 2010 Feb; 95(2):756-64. PubMed ID: 19965921
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  • 11. [Genetic aspects of growth hormone deficiency].
    Reynaud R, Castinetti F, Galon-Faure N, Albarel-Loy F, Saveanu A, Quentien MH, Jullien N, Khammar A, Enjalbert A, Barlier A, Brue T.
    Arch Pediatr; 2011 Jun; 18(6):696-706. PubMed ID: 21497494
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  • 12. Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
    Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC.
    Clin Endocrinol (Oxf); 2013 Mar; 78(3):415-23. PubMed ID: 22897141
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  • 13. Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.
    Lamine F, Kanoun F, Chihaoui M, Saveanu A, Menif E, Barlier A, Enjalbert A, Brue T, Slimane H.
    Pituitary; 2012 Dec; 15 Suppl 1():S81-6. PubMed ID: 22797803
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  • 14. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
    Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Brue T, Barlier A.
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3329-36. PubMed ID: 16735499
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  • 15. Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
    Avbelj Stefanija M, Kotnik P, Bratanič N, Žerjav Tanšek M, Bertok S, Bratina N, Battelino T, Trebušak Podkrajšek K.
    Horm Res Paediatr; 2015 Sep; 84(3):153-8. PubMed ID: 26111865
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  • 16. Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging.
    Kim SS, Kim Y, Shin YL, Kim GH, Kim TU, Yoo HW.
    Horm Res; 2003 Sep; 60(6):277-83. PubMed ID: 14646405
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  • 17. Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
    Turton JP, Strom M, Langham S, Dattani MT, Le Tissier P.
    Clin Endocrinol (Oxf); 2012 Mar; 76(3):387-93. PubMed ID: 22010633
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  • 18. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
    Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW.
    Yonsei Med J; 2017 May; 58(3):527-532. PubMed ID: 28332357
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  • 19. A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.
    Snabboon T, Plengpanich W, Buranasupkajorn P, Khwanjaipanich R, Vasinanukorn P, Suwanwalaikorn S, Khovidhunkit W, Shotelersuk V.
    Horm Res; 2008 May; 69(1):60-4. PubMed ID: 18059085
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  • 20. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
    Dattani MT.
    Clin Endocrinol (Oxf); 2005 Aug; 63(2):121-30. PubMed ID: 16060904
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