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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Rautengarten C, Quarrell OW, Stals K, Caswell RC, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, Ebert B, Ellard S. Rautengarten C, et al. Among authors: ellard s. Hum Mol Genet. 2019 Nov 1;28(21):3543-3551. doi: 10.1093/hmg/ddz200. Hum Mol Genet. 2019. PMID: 31423530 Free PMC article.
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
Turner JJ, Leotlela PD, Pannett AA, Forbes SA, Bassett JH, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, Jackson CE, Pope R, Quarrell OW, Trembath R, Thakker RV. Turner JJ, et al. Among authors: ellard s. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. doi: 10.1210/jcem.87.6.8607. J Clin Endocrinol Metab. 2002. PMID: 12050235
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT. Gloyn AL, et al. Among authors: ellard s. Hum Mol Genet. 2005 Apr 1;14(7):925-34. doi: 10.1093/hmg/ddi086. Epub 2005 Feb 17. Hum Mol Genet. 2005. PMID: 15718250
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Ellard S, et al. Am J Hum Genet. 2007 Aug;81(2):375-82. doi: 10.1086/519174. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17668386 Free PMC article.
670 results