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1995 1
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1998 1
2000 1
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2007 1
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2009 3
2010 2
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2013 4
2014 2
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2017 3
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30 results

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Page 1
Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids.
Sampaziotis F, Justin AW, Tysoe OC, Sawiak S, Godfrey EM, Upponi SS, Gieseck RL 3rd, de Brito MC, Berntsen NL, Gómez-Vázquez MJ, Ortmann D, Yiangou L, Ross A, Bargehr J, Bertero A, Zonneveld MCF, Pedersen MT, Pawlowski M, Valestrand L, Madrigal P, Georgakopoulos N, Pirmadjid N, Skeldon GM, Casey J, Shu W, Materek PM, Snijders KE, Brown SE, Rimland CA, Simonic I, Davies SE, Jensen KB, Zilbauer M, Gelson WTH, Alexander GJ, Sinha S, Hannan NRF, Wynn TA, Karlsen TH, Melum E, Markaki AE, Saeb-Parsy K, Vallier L. Sampaziotis F, et al. Among authors: simonic i. Nat Med. 2017 Aug;23(8):954-963. doi: 10.1038/nm.4360. Epub 2017 Jul 3. Nat Med. 2017. PMID: 28671689 Free article.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. Among authors: simonic i. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: simonic i. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
The enigma of common fragile sites.
Simonic I, Gericke GS. Simonic I, et al. Hum Genet. 1996 Apr;97(4):524-31. doi: 10.1007/BF02267080. Hum Genet. 1996. PMID: 8834256
Method to Synchronize Cell Cycle of Human Pluripotent Stem Cells without Affecting Their Fundamental Characteristics.
Yiangou L, Grandy RA, Morell CM, Tomaz RA, Osnato A, Kadiwala J, Muraro D, Garcia-Bernardo J, Nakanoh S, Bernard WG, Ortmann D, McCarthy DJ, Simonic I, Sinha S, Vallier L. Yiangou L, et al. Among authors: simonic i. Stem Cell Reports. 2019 Jan 8;12(1):165-179. doi: 10.1016/j.stemcr.2018.11.020. Epub 2018 Dec 27. Stem Cell Reports. 2019. PMID: 30595546 Free PMC article.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J. Gordon CT, et al. Among authors: simonic i. J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173. J Med Genet. 2012. PMID: 23188108
The clinical utility of genetic testing of tissues from pregnancy losses.
Waterman CA, Batstone P, Bown N, Cresswell L, Delmege C, English CJ, Fews G, Grimsley L, Imrie S, Kulkarni A, Mann K, Johnson R, Morgan SM, Roberts P, Simonic I, Trueman S, Wall M, McMullan D. Waterman CA, et al. Among authors: simonic i. BJOG. 2018 Jun;125(7):867-873. doi: 10.1111/1471-0528.14229. Epub 2016 Sep 5. BJOG. 2018. PMID: 27594580
30 results