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Bone health and SATB2-associated syndrome.
Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Among authors: brain c. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Zarate YA, et al. Among authors: brain c. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436146
Elemental formula associated hypophosphataemic rickets.
Uday S, Sakka S, Davies JH, Randell T, Arya V, Brain C, Tighe M, Allgrove J, Arundel P, Pryce R, Högler W, Shaw NJ. Uday S, et al. Among authors: brain c. Clin Nutr. 2019 Oct;38(5):2246-2250. doi: 10.1016/j.clnu.2018.09.028. Epub 2018 Sep 28. Clin Nutr. 2019. PMID: 30314926
Holistic management of DSD.
Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC. Brain CE, et al. Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):335-54. doi: 10.1016/j.beem.2010.01.006. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 20541156 Free PMC article. Review.
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV. Hannan FM, et al. Among authors: brain c. Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422767
Contiguous gene deletion of TBX5 and TBX3: report of another case.
Forzano F, Foley PA, Keane MR, Brain CE, Smith GD, Yates RW, Ellershaw D, Calder AD, Scott RH. Forzano F, et al. Clin Dysmorphol. 2018 Jan;27(1):6-8. doi: 10.1097/MCD.0000000000000199. Clin Dysmorphol. 2018. PMID: 28961683 No abstract available.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Among authors: brain c. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276
139 results