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Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC. Peyrard-Janvid M, et al. Among authors: fransson i. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360809 Free PMC article.
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
Anthoni H, Zucchelli M, Matsson H, Müller-Myhsok B, Fransson I, Schumacher J, Massinen S, Onkamo P, Warnke A, Griesemann H, Hoffmann P, Nopola-Hemmi J, Lyytinen H, Schulte-Körne G, Kere J, Nöthen MM, Peyrard-Janvid M. Anthoni H, et al. Among authors: fransson i. Hum Mol Genet. 2007 Mar 15;16(6):667-77. doi: 10.1093/hmg/ddm009. Epub 2007 Feb 19. Hum Mol Genet. 2007. PMID: 17309879
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
Jiao H, Tóth B, Erdos M, Fransson I, Rákóczi E, Balogh I, Magyarics Z, Dérfalvi B, Csorba G, Szaflarska A, Megarbane A, Akatcherian C, Dbaibo G, Rajnavölgyi E, Hammarström L, Kere J, Lefranc G, Maródi L. Jiao H, et al. Among authors: fransson i. Mol Immunol. 2008 Nov;46(1):202-6. doi: 10.1016/j.molimm.2008.07.001. Epub 2008 Aug 15. Mol Immunol. 2008. PMID: 18706697
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
Buckley PG, Mantripragada KK, Benetkiewicz M, Tapia-Páez I, Diaz De Ståhl T, Rosenquist M, Ali H, Jarbo C, De Bustos C, Hirvelä C, Sinder Wilén B, Fransson I, Thyr C, Johnsson BI, Bruder CE, Menzel U, Hergersberg M, Mandahl N, Blennow E, Wedell A, Beare DM, Collins JE, Dunham I, Albertson D, Pinkel D, Bastian BC, Faruqi AF, Lasken RS, Ichimura K, Collins VP, Dumanski JP. Buckley PG, et al. Among authors: fransson i. Hum Mol Genet. 2002 Dec 1;11(25):3221-9. doi: 10.1093/hmg/11.25.3221. Hum Mol Genet. 2002. PMID: 12444106
32 results