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Journal Abstract Search

245 related items for PubMed ID: 22715480

  • 41. Brain development is a multi-level regulated process--the case of the OTX2 gene.
    Gat-Yablonski G.
    Pediatr Endocrinol Rev; 2011 Sep; 9(1):422-30. PubMed ID: 22783640
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  • 42. A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency.
    Tajima T, Yorifuji T, Ishizu K, Fujieda K.
    Exp Clin Endocrinol Diabetes; 2010 Jul; 118(7):405-9. PubMed ID: 19856252
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  • 43. Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.
    Vieira TC, Boldarine VT, Abucham J.
    Arq Bras Endocrinol Metabol; 2007 Oct; 51(7):1097-103. PubMed ID: 18157385
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  • 44. Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.
    Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A.
    Horm Metab Res; 2016 Dec; 48(12):822-827. PubMed ID: 27756091
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  • 45. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
    Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR.
    Clin Endocrinol (Oxf); 2017 Dec; 87(6):725-732. PubMed ID: 28734020
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  • 47. A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.
    Suzuki S, Matsuo K, Ito Y, Kobayashi A, Kokumai T, Furuya A, Ueda O, Mukai T, Yano K, Fujieda K, Okuno A, Tanahashi Y, Azuma H.
    Eur J Endocrinol; 2021 May 21; 185(1):1-12. PubMed ID: 33886498
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  • 51. Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
    Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S.
    Hum Mol Genet; 2016 Feb 01; 25(3):472-83. PubMed ID: 26612202
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  • 56. DNA testing in patients with GH deficiency at the time of transition.
    Dattani MT.
    Growth Horm IGF Res; 2003 Aug 01; 13 Suppl A():S122-9. PubMed ID: 12914740
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  • 57. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.
    Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K.
    Endocr J; 2007 Aug 01; 54(4):637-41. PubMed ID: 17527005
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