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Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, Signore M, Puelles E, Gerrelli D, Farooqi IS, Raza J, Walker J, Kavanaugh SI, Tsai PS, Pitteloud N, Martinez-Barbera JP, Dattani MT. McCabe MJ, et al. Among authors: gregory lc. J Clin Endocrinol Metab. 2011 Oct;96(10):E1709-18. doi: 10.1210/jc.2011-0454. Epub 2011 Aug 10. J Clin Endocrinol Metab. 2011. PMID: 21832120 Free PMC article.
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N. Raivio T, et al. Among authors: gregory lc. J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8. J Clin Endocrinol Metab. 2012. PMID: 22319038 Free PMC article. Clinical Trial.
Pituitary gland development: an update.
Bancalari RE, Gregory LC, McCabe MJ, Dattani MT. Bancalari RE, et al. Among authors: gregory lc. Endocr Dev. 2012;23:1-15. doi: 10.1159/000341733. Epub 2012 Nov 23. Endocr Dev. 2012. PMID: 23182816 Review.
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera JP, Dattani MT. McCabe MJ, et al. Among authors: gregory lc. J Clin Endocrinol Metab. 2013 Mar;98(3):E547-57. doi: 10.1210/jc.2012-3067. Epub 2013 Feb 5. J Clin Endocrinol Metab. 2013. PMID: 23386640 Free PMC article.
Structural pituitary abnormalities associated with CHARGE syndrome.
Gregory LC, Gevers EF, Baker J, Kasia T, Chong K, Josifova DJ, Caimari M, Bilan F, McCabe MJ, Dattani MT. Gregory LC, et al. J Clin Endocrinol Metab. 2013 Apr;98(4):E737-43. doi: 10.1210/jc.2012-3467. Epub 2013 Mar 22. J Clin Endocrinol Metab. 2013. PMID: 23526466 Free PMC article.
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. Gregory LC, et al. Clin Endocrinol (Oxf). 2015 May;82(5):728-38. doi: 10.1111/cen.12637. Epub 2014 Dec 9. Clin Endocrinol (Oxf). 2015. PMID: 25327282
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: gregory lc. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A, Hughes I, Townshend S, Martinez-Barbera JP, Bouloux PM, Dattani MT. McCabe MJ, et al. Among authors: gregory lc. Mol Cell Endocrinol. 2015 Dec 5;417:63-72. doi: 10.1016/j.mce.2015.09.010. Epub 2015 Sep 14. Mol Cell Endocrinol. 2015. PMID: 26375424 Free PMC article.
41 results