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Page 1
Mapping translocation breakpoints by next-generation sequencing.
Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH. Chen W, et al. Among authors: ropers hh. Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7. Genome Res. 2008. PMID: 18326688 Free PMC article.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: ropers hh. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. Ullmann R, et al. Among authors: ropers hh. Hum Mutat. 2007 Jul;28(7):674-82. doi: 10.1002/humu.20546. Hum Mutat. 2007. PMID: 17480035
ST3GAL3 mutations impair the development of higher cognitive functions.
Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW. Hu H, et al. Among authors: ropers hh. Am J Hum Genet. 2011 Sep 9;89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008. Am J Hum Genet. 2011. PMID: 21907012 Free PMC article.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Among authors: ropers hh. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brøndum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T. Wirth J, et al. Among authors: ropers hh. J Med Genet. 1999 Apr;36(4):271-8. J Med Genet. 1999. PMID: 10227392 Free PMC article.
427 results