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Page 1
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: quarrell ow. 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: quarrell ow. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. doi: 10.1210/jcem.87.6.8607. J Clin Endocrinol Metab. 2002. PMID: 12050235
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B. Li Y, et al. Among authors: quarrell ow. Am J Hum Genet. 2010 Dec 10;87(6):757-67. doi: 10.1016/j.ajhg.2010.10.003. Am J Hum Genet. 2010. PMID: 21129728 Free PMC article.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. Gissen P, et al. Among authors: quarrell ow. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Among authors: quarrell ow. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
Seizure frequency in adults with Wolf-Hirschhorn syndrome.
Worthington JC, Rigby AS, Quarrell OW. Worthington JC, et al. Among authors: quarrell ow. Am J Med Genet A. 2008 Oct 1;146A(19):2528-31. doi: 10.1002/ajmg.a.32483. Am J Med Genet A. 2008. PMID: 18792972
77 results