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Page 1
Growth in individuals with Saul-Wilson syndrome.
Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Ferreira CR, et al. Among authors: duker al. Am J Med Genet A. 2020 Sep;182(9):2110-2116. doi: 10.1002/ajmg.a.61754. Epub 2020 Jul 11. Am J Med Genet A. 2020. PMID: 32652690 Free PMC article.
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Murray JE, et al. Among authors: duker al. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. Hum Mutat. 2014. PMID: 24123394 Free PMC article.
Metatropic dysplasia is associated with increased fracture risk.
Bober MB, Duker AL, Carney M, Ditro CP, Rogers K, Mackenzie WG. Bober MB, et al. Among authors: duker al. Am J Med Genet A. 2016 May;170A(5):1373-6. doi: 10.1002/ajmg.a.37576. Epub 2016 Jan 29. Am J Med Genet A. 2016. PMID: 26823048 No abstract available.
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study; Wood AJ, Vagnarelli P, Jackson AP. Martin CA, et al. Genes Dev. 2016 Oct 1;30(19):2158-2172. doi: 10.1101/gad.286351.116. Epub 2016 Oct 13. Genes Dev. 2016. PMID: 27737959 Free PMC article.
38 results