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Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, Ayerza A, Bernal ML, Ramos FJ, Wieczorek D, Gillessen-Kaesbach G, Pié J, Kaiser FJ. Teresa-Rodrigo ME, et al. Among authors: wieczorek d. Biomed Res Int. 2016;2016:8742939. doi: 10.1155/2016/8742939. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925417 Free PMC article.
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: wieczorek d. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870
Two brothers with Burn-McKeown syndrome.
Wieczorek D, Teber OA, Lohmann D, Gillessen-Kaesbach G. Wieczorek D, et al. Clin Dysmorphol. 2003 Jul;12(3):171-4. doi: 10.1097/01.mcd.0000072163.33788.c4. Clin Dysmorphol. 2003. PMID: 14564154
Syndrome identification based on 2D analysis software.
Boehringer S, Vollmar T, Tasse C, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D. Boehringer S, et al. Among authors: wieczorek d. Eur J Hum Genet. 2006 Oct;14(10):1082-9. doi: 10.1038/sj.ejhg.5201673. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773127
469 results