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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Among authors: ropers hh. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Musante L, et al. Among authors: ropers hh. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Kalscheuer VM, et al. Among authors: ropers hh. Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736870 Free PMC article.
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: ropers hh. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: ropers hh. Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.
426 results