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Journal Abstract Search

206 related items for PubMed ID: 31782289

  • 1. 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
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  • 3. Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Visser TJ, Peeters RP, De Graaff LCG.
    Growth Horm IGF Res; 2020 Feb 02; 50():35-41. PubMed ID: 31862539
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  • 6. 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 02; 98(3):E567-75. PubMed ID: 23408573
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  • 7. 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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  • 8. A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.
    Martín-Rivada Á, Rodríguez-Contreras FJ, Muñoz-Calvo MT, Güemes M, González-Casado I, Del Pozo JS, Campos-Barros Á, Argente J.
    Growth Horm IGF Res; 2019 Feb 02; 44():17-19. PubMed ID: 30583238
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  • 9. 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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  • 10. Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
    Kremer Hovinga ICL, Giltay JC, van der Crabben SN, Steyls A, van der Kamp HJ, Paulussen ADC.
    Clin Endocrinol (Oxf); 2018 Sep 02; 89(3):378-380. PubMed ID: 29876959
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  • 11. Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
    Babu D, Fanelli A, Mellone S, Muniswamy R, Wasniewska M, Prodam F, Petri A, Bellone S, Salerno MC, Giordano M.
    Clin Endocrinol (Oxf); 2019 Mar 02; 90(3):449-456. PubMed ID: 30548673
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  • 14. [Late onset hypopituitarism due to hypoplasia of the adenohypophysis with invisible stalk and ectopic neurohypophysis in a 67-year-old patient].
    Hernández Lavado R, Cabanillas López M, Rodríguez Ortega P, Guzmán Carmona C, Rasero Hernández I.
    Endocrinol Nutr; 2009 May 02; 56(5):270-2. PubMed ID: 19627749
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  • 15. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
    Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT.
    Am J Hum Genet; 2005 May 02; 76(5):833-49. PubMed ID: 15800844
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  • 17. Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
    Corder ML, Berland S, Førsvoll JA, Banerjee I, Murray P, Bratland E, Gokhale D, Houge G, Douzgou S.
    Am J Med Genet A; 2022 Apr 02; 188(4):1065-1074. PubMed ID: 34921505
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  • 19. A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
    Kordaß U, Schröder C, Elbracht M, Soellner L, Eggermann T.
    Am J Med Genet A; 2015 May 02; 167A(5):1121-4. PubMed ID: 25820550
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  • 20. 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 02; 82(4):562-9. PubMed ID: 25056824
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