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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: marshall cr. 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.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 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: marshall cr. 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.
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Costain G, et al. Among authors: marshall cr. JAMA Netw Open. 2020 Sep 1;3(9):e2018109. doi: 10.1001/jamanetworkopen.2020.18109. JAMA Netw Open. 2020. PMID: 32960281 Free PMC article.
389 results