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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Among authors: david a. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: david a. Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28. Am J Hum Genet. 2005. PMID: 15739154 Free PMC article.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: david a. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636
Economic Impact of Severe Early-Onset Foetal Growth Restriction: A Multicentre Prospective Cohort Study.
Bray G, Maksym K, Dilipkumar M, Spencer RN, Ginsberg Y, Weissbach T, Peebles DM, Marlow N, Huertas-Ceballos A, Buquis G, Okell J, Hecher K, Diemert A, Singer D, Hansson SR, Ley D, Figueras F, Gratacós E, Crispi F, David AL, Hunter R. Bray G, et al. Among authors: david al. BJOG. 2025 Jun 24. doi: 10.1111/1471-0528.18266. Online ahead of print. BJOG. 2025. PMID: 40552422
Squalamine and claramine A1 disperse Pseudomonas aeruginosa biofilm.
Tareau AS, Tahrioui A, Gonzalez M, Croize E, Varin Simon J, Barreau M, David A, Reffuveille F, Brunel JM, Lesouhaitier O, Chevalier S. Tareau AS, et al. Among authors: david a. Biofilm. 2025 May 27;9:100293. doi: 10.1016/j.bioflm.2025.100293. eCollection 2025 Jun. Biofilm. 2025. PMID: 40519941 Free PMC article.
Genetic abnormalities in catatonia: a systematic review.
Conti I, Ramachandran K, Badenoch JB, Fanshawe JB, Rengasamy E, Cross B, Rogdaki M, David AS, Santosh P, Rogers JP, Watson C. Conti I, et al. Among authors: david as. Psychol Med. 2025 Jun 13;55:e164. doi: 10.1017/S0033291725100536. Psychol Med. 2025. PMID: 40509778 Free PMC article. Review.
3,536 results