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Journal Abstract Search

388 related items for PubMed ID: 20685856

  • 1. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
    França MM, Jorge AA, Carvalho LR, Costalonga EF, Vasques GA, Leite CC, Mendonca BB, Arnhold IJ.
    J Clin Endocrinol Metab; 2010 Nov; 95(11):E384-91. PubMed ID: 20685856
    [Abstract] [Full Text] [Related]

  • 2. Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
    França MM, Jorge AA, Carvalho LR, Costalonga EF, Otto AP, Correa FA, Mendonca BB, Arnhold IJ.
    Clin Endocrinol (Oxf); 2013 Apr; 78(4):551-7. PubMed ID: 22967285
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  • 3. Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
    Paulo SS, Fernandes-Rosa FL, Turatti W, Coeli-Lacchini FB, Martinelli CE, Nakiri GS, Moreira AC, Santos AC, de Castro M, Antonini SR.
    Clin Endocrinol (Oxf); 2015 Apr; 82(4):562-9. PubMed ID: 25056824
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  • 4. Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
    Flemming GM, Klammt J, Ambler G, Bao Y, Blum WF, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle RW.
    J Clin Endocrinol Metab; 2013 Mar; 98(3):E567-75. PubMed ID: 23408573
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  • 5. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene.
    Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Özbek MN.
    J Clin Res Pediatr Endocrinol; 2020 Sep 02; 12(3):319-328. PubMed ID: 31782289
    [Abstract] [Full Text] [Related]

  • 6. Role of GLI2 in hypopituitarism phenotype.
    Arnhold IJ, França MM, Carvalho LR, Mendonca BB, Jorge AA.
    J Mol Endocrinol; 2015 Jun 02; 54(3):R141-50. PubMed ID: 25878059
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  • 7. GLI2 mutations as a cause of hypopituitarism.
    Cohen LE.
    Pediatr Endocrinol Rev; 2012 Aug 02; 9(4):706-9. PubMed ID: 23304807
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  • 8. Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.
    Tasdemir S, Sahin I, Cayır A, Doneray H, Solomon BD, Muenke M, Yuce I, Tatar A.
    J Pediatr Endocrinol Metab; 2014 Jul 02; 27(7-8):777-81. PubMed ID: 24706429
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  • 9. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
    Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD.
    Am J Med Genet A; 2012 Jan 02; 158A(1):166-73. PubMed ID: 22106008
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  • 12. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
    Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M.
    J Med Genet; 2014 Jun 02; 51(6):413-8. PubMed ID: 24744436
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  • 14. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe.
    Melo ME, Marui S, Carvalho LR, Arnhold IJ, Leite CC, Mendonça BB, Knoepfelmacher M.
    Clin Endocrinol (Oxf); 2007 Jan 02; 66(1):95-102. PubMed ID: 17201807
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  • 17. 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 02; 94(1):314-9. PubMed ID: 18854396
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  • 19. Dynamic MRI in the congenital agenesis of the neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary function.
    Maghnie M, Genovese E, Villa A, Spagnolo L, Campan R, Severi F.
    Clin Endocrinol (Oxf); 1996 Sep 02; 45(3):281-90. PubMed ID: 8949565
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  • 20. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
    Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT.
    J Clin Endocrinol Metab; 2005 Aug 02; 90(8):4762-70. PubMed ID: 15928241
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