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Wt1 is required for cardiovascular progenitor cell formation through transcriptional control of Snail and E-cadherin.
Martínez-Estrada OM, Lettice LA, Essafi A, Guadix JA, Slight J, Velecela V, Hall E, Reichmann J, Devenney PS, Hohenstein P, Hosen N, Hill RE, Muñoz-Chapuli R, Hastie ND. Martínez-Estrada OM, et al. Among authors: hall e. Nat Genet. 2010 Jan;42(1):89-93. doi: 10.1038/ng.494. Epub 2009 Dec 20. Nat Genet. 2010. PMID: 20023660 Free PMC article.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ. Stephen LA, et al. Among authors: hall ea. Elife. 2015 Sep 19;4:e08077. doi: 10.7554/eLife.08077. Elife. 2015. PMID: 26386247 Free PMC article.
Erratum to: Methods for evaluating medical tests and biomarkers.
Gopalakrishna G, Langendam M, Scholten R, Bossuyt P, Leeflang M, Noel-Storr A, Thomas J, Marshall I, Wallace B, Whiting P, Davenport C, Leeflang M, GopalaKrishna G, de Salis I, Mallett S, Wolff R, Whiting P, Riley R, Westwood M, Kleinen J, Collins G, Reitsma H, Moons K, Zapf A, Hoyer A, Kramer K, Kuss O, Ensor J, Deeks JJ, Martin EC, Riley RD, Rücker G, Steinhauser S, Schumacher M, Riley R, Ensor J, Snell K, Willis B, Debray T, Moons K, Deeks J, Collins G, di Ruffano LF, Willis B, Davenport C, Mallett S, Taylor-Phillips S, Hyde C, Deeks J, Mallett S, Taylor SA, Batnagar G; STREAMLINE COLON Investigators; STREAMLINE LUNG Investigators; METRIC Investigators; Taylor-Phillips S, Di Ruffano LF, Seedat F, Clarke A, Deeks J, Byron S, Nixon F, Albrow R, Walker T, Deakin C, Hyde C, Zhelev Z, Hunt H, di Ruffano LF, Yang Y, Abel L, Buchanan J, Fanshawe T, Shinkins B, Wynants L, Verbakel J, Van Huffel S, Timmerman D, Van Calster B, Leeflang M, Zwinderman A, Bossuyt P, Oke J, O'Sullivan J, Perera R, Nicholson B, Bromley HL, Roberts TE, Francis A, Petrie D, Mann GB, Malottki K, Smith H, Deeks J, Billingham L, Sitch A, Mallett S, Deeks J, Gerke O, Holm-Vilstrup M, Segtnan EA, Halekoh U, Høilund-… See abstract for full author list ➔ Gopalakrishna G, et al. Among authors: hall p, hall e. Diagn Progn Res. 2017 Mar 30;1:11. doi: 10.1186/s41512-017-0011-4. eCollection 2017. Diagn Progn Res. 2017. PMID: 31095132 Free PMC article.
2,952 results