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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, Uster T, Kirwin S, Robbins K, Vinette KMB, Daneman A, Marshall CR, Collins C, Thummel K, Sochett E, Levine MA. Lenherr-Taube N, et al. Among authors: chitayat d. J Clin Endocrinol Metab. 2021 Sep 27;106(10):2915-2937. doi: 10.1210/clinem/dgab431. J Clin Endocrinol Metab. 2021. PMID: 34125233 Free PMC article.
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM. Elkadri A, et al. Among authors: chitayat d. Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7. doi: 10.1016/j.jcmgh.2015.05.001. Cell Mol Gastroenterol Hepatol. 2015. PMID: 26207260 Free PMC article.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Jobling R, et al. Among authors: chitayat d. J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599419
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. Costain G, et al. Among authors: chitayat d. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293988 Free article.
561 results