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Deciphering the genetic basis of microcystin tolerance.
Schwarzenberger A, Sadler T, Motameny S, Ben-Khalifa K, Frommolt P, Altmüller J, Konrad K, von Elert E. Schwarzenberger A, et al. Among authors: frommolt p. BMC Genomics. 2014 Sep 9;15(1):776. doi: 10.1186/1471-2164-15-776. BMC Genomics. 2014. PMID: 25199885 Free PMC article.
The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda.
Schiffer PH, Kroiher M, Kraus C, Koutsovoulos GD, Kumar S, Camps JI, Nsah NA, Stappert D, Morris K, Heger P, Altmüller J, Frommolt P, Nürnberg P, Thomas WK, Blaxter ML, Schierenberg E. Schiffer PH, et al. Among authors: frommolt p. BMC Genomics. 2013 Dec 27;14:923. doi: 10.1186/1471-2164-14-923. BMC Genomics. 2013. PMID: 24373391 Free PMC article.
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. Hussain MS, et al. Among authors: frommolt p. Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521416 Free PMC article.
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA. Hussain MS, et al. Among authors: frommolt p. Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918663
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: frommolt p. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.
62 results