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Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay.
Barbi G, Spaich Ch, Adolph S, Rossier E, Kehrer-Sawatzki H. Barbi G, et al. Among authors: rossier e. Am J Med Genet A. 2005 Feb 1;132A(4):419-24. doi: 10.1002/ajmg.a.30491. Am J Med Genet A. 2005. PMID: 15633178 Review.
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.
Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, Terinde R, Wirth J, Vogel W, Kehrer-Sawatzki H. Barbi G, et al. Among authors: rossier e. J Med Genet. 2002 Feb;39(2):E6. doi: 10.1136/jmg.39.2.e6. J Med Genet. 2002. PMID: 11836375 Free PMC article. No abstract available.
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller RS, Ullmann R, He J, Papadopoulos N, Tommerup N, Larsen LA. Zhang L, et al. Among authors: rossier e. Eur J Hum Genet. 2009 Aug;17(8):1010-8. doi: 10.1038/ejhg.2008.269. Epub 2009 Jan 28. Eur J Hum Genet. 2009. PMID: 19172993 Free PMC article.
Menkes disease with discordant phenotype in female monozygotic twins.
Burgemeister AL, Zirn B, Oeffner F, Kaler SG, Lemm G, Rossier E, Büttel HM. Burgemeister AL, et al. Among authors: rossier e. Am J Med Genet A. 2015 Nov;167A(11):2826-9. doi: 10.1002/ajmg.a.37276. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239182 Free PMC article.
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: rossier e. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262
74 results