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Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu CI, Bancalari RE, Rahikkala E, Veijola R, Lopponen T, Graziola F, Turton J, Signore M, Mousavy Gharavy SN, Charolidi N, Sokol SY, Andoniadou CL, Wilson SW, Merrill BJ, Dattani MT, Martinez-Barbera JP. Gaston-Massuet C, et al. Among authors: mccabe mj. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):E548-57. doi: 10.1073/pnas.1503346113. Epub 2016 Jan 13. Proc Natl Acad Sci U S A. 2016. PMID: 26764381 Free PMC article.
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. 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.
Pituitary gland development: an update.
Bancalari RE, Gregory LC, McCabe MJ, Dattani MT. Bancalari RE, et al. Among authors: mccabe mj. Endocr Dev. 2012;23:1-15. doi: 10.1159/000341733. Epub 2012 Nov 23. Endocr Dev. 2012. PMID: 23182816 Review.
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. Among authors: mccabe mj. Clin Endocrinol (Oxf). 2015 May;82(5):728-38. doi: 10.1111/cen.12637. Epub 2014 Dec 9. Clin Endocrinol (Oxf). 2015. PMID: 25327282
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. 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. Among authors: mccabe mj. 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.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. Webb EA, et al. Among authors: mccabe mj. Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10. Brain. 2013. PMID: 24022475 Free PMC article.
86 results