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Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Chen A, Roberts MS, Ward LM. Imel EA, et al. Among authors: biggin a. J Clin Endocrinol Metab. 2023 Oct 18;108(11):2990-2998. doi: 10.1210/clinem/dgad230. J Clin Endocrinol Metab. 2023. PMID: 37084401 Free PMC article.
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: biggin a. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.
Osteogenesis imperfecta: diagnosis and treatment.
Biggin A, Munns CF. Biggin A, et al. Curr Osteoporos Rep. 2014 Sep;12(3):279-88. doi: 10.1007/s11914-014-0225-0. Curr Osteoporos Rep. 2014. PMID: 24964776 Review.
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Munns CF, et al. Among authors: biggin a. Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027496 Free PMC article.
47 results