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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Prasad R, et al. Among authors: clemente m. J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165343 Free PMC article.
Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
Camats N, Fernández-Cancio M, Carrascosa A, Andaluz P, Albisu MÁ, Clemente M, Gussinyé M, Yeste D, Audí L. Camats N, et al. Among authors: clemente m. Clin Endocrinol (Oxf). 2012 Oct;77(4):564-74. doi: 10.1111/j.1365-2265.2012.04410.x. Clin Endocrinol (Oxf). 2012. PMID: 22489751
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L, Prasad R. Maharaj A, et al. Among authors: clemente m. Endocr Connect. 2022 Jul 25;11(8):e220250. doi: 10.1530/EC-22-0250. Print 2022 Aug 1. Endocr Connect. 2022. PMID: 35904228 Free PMC article. Review.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D. Camats N, et al. Among authors: clemente m. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711. J Clin Endocrinol Metab. 2021. PMID: 33029631
[Body mass index and tri-ponderal mass index of 1,453 healthy non-obese, non-undernourished millennial children. The Barcelona longitudinal growth study].
Carrascosa A, Yeste D, Moreno-Galdó A, Gussinyé M, Ferrández Á, Clemente M, Fernández-Cancio M. Carrascosa A, et al. Among authors: clemente m. An Pediatr (Engl Ed). 2018 Sep;89(3):137-143. doi: 10.1016/j.anpedi.2017.12.016. Epub 2018 Feb 22. An Pediatr (Engl Ed). 2018. PMID: 29478880 Free article. Spanish.
Human growth hormone (GH1) gene polymorphism map in a normal-statured adult population.
Esteban C, Audí L, Carrascosa A, Fernández-Cancio M, Pérez-Arroyo A, Ulied A, Andaluz P, Arjona R, Albisu M, Clemente M, Gussinyé M, Yeste D. Esteban C, et al. Among authors: clemente m. Clin Endocrinol (Oxf). 2007 Feb;66(2):258-68. doi: 10.1111/j.1365-2265.2006.02718.x. Clin Endocrinol (Oxf). 2007. PMID: 17223997 Free PMC article.
Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children.
Carrascosa A, Audí L, Esteban C, Fernández-Cancio M, Andaluz P, Gussinyé M, Clemente M, Yeste D, Albisu MA. Carrascosa A, et al. Among authors: clemente m. J Clin Endocrinol Metab. 2008 Jan;93(1):147-53. doi: 10.1210/jc.2007-1182. Epub 2007 Oct 9. J Clin Endocrinol Metab. 2008. PMID: 17925340
458 results