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Page 1
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: ullmann r. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. Erdogan F, et al. Among authors: ullmann r. Am J Med Genet A. 2007 Jan 15;143A(2):172-8. doi: 10.1002/ajmg.a.31541. Am J Med Genet A. 2007. PMID: 17163532
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Among authors: ullmann r. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Among authors: ullmann r. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.
205 results