These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 23408573)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients.
    Juanes M; Di Palma I; Ciaccio M; Marino R; Ramírez PC; Pérez Garrid N; Maceiras M; Lazzati JM; Rivarola MA; Belgorosky A
    Medicina (B Aires); 2016; 76(4):213-8. PubMed ID: 27576279
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 90(3):449-456. PubMed ID: 30548673
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
    Gregory LC; Gaston-Massuet C; Andoniadou CL; Carreno G; Webb EA; Kelberman D; McCabe MJ; Panagiotakopoulos L; Saldanha JW; Spoudeas HA; Torpiano J; Rossi M; Raine J; Canham N; Martinez-Barbera JP; Dattani MT
    Clin Endocrinol (Oxf); 2015 May; 82(5):728-38. PubMed ID: 25327282
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Role of GLI2 in hypopituitarism phenotype.
    Arnhold IJ; França MM; Carvalho LR; Mendonca BB; Jorge AA
    J Mol Endocrinol; 2015 Jun; 54(3):R141-50. PubMed ID: 25878059
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    Demiral M; Demirbilek H; Unal E; Durmaz CD; Ceylaner S; Özbek MN
    J Clin Res Pediatr Endocrinol; 2020 Sep; 12(3):319-328. PubMed ID: 31782289
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 50():35-41. PubMed ID: 31862539
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 158A(1):166-73. PubMed ID: 22106008
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 51(6):413-8. PubMed ID: 24744436
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 188(4):1065-1074. PubMed ID: 34921505
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
    Rohayem J; Drechsel H; Tittel B; Hahn G; Pfaeffle R; Huebner A
    Horm Res Paediatr; 2016; 86(2):106-116. PubMed ID: 27487097
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GLI2 mutations as a cause of hypopituitarism.
    Cohen LE
    Pediatr Endocrinol Rev; 2012 Aug; 9(4):706-9. PubMed ID: 23304807
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 167A(5):1121-4. PubMed ID: 25820550
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly.
    Bear KA; Solomon BD
    Am J Med Genet A; 2015 Oct; 167A(10):2491-2. PubMed ID: 25974718
    [No Abstract]   [Full Text] [Related]  

  • 18. High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
    Navardauskaite R; Dusatkova P; Obermannova B; Pfaeffle RW; Blum WF; Adukauskiene D; Smetanina N; Cinek O; Verkauskiene R; Lebl J
    J Clin Endocrinol Metab; 2014 Jan; 99(1):299-306. PubMed ID: 24178788
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.
    Sloop KW; Walvoord EC; Showalter AD; Pescovitz OH; Rhodes SJ
    J Clin Endocrinol Metab; 2000 Aug; 85(8):2701-8. PubMed ID: 10946868
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.
    Valenza F; Cittaro D; Stupka E; Biancolini D; Patricelli MG; Bonanomi D; Lazarević D
    PLoS One; 2019; 14(1):e0210097. PubMed ID: 30629636
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.