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Page 1
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: zenker m. 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
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Among authors: zenker m. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
Abo-Dalo B, Roes M, Canún S, Delatycki M, Gillessen-Kaesbach G, Hrytsiuk I, Jung C, Kerr B, Mowat D, Seemanova E, Steiner CE, Stewart H, Thierry P, van Buggenhout G, White S, Zenker M, Kutsche K. Abo-Dalo B, et al. Among authors: zenker m. Clin Dysmorphol. 2008 Jul;17(3):181-185. doi: 10.1097/MCD.0b013e3282f2514c. Clin Dysmorphol. 2008. PMID: 18541964 No abstract available.
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. Neumann TE, et al. Among authors: zenker m. Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854871 Free PMC article.
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K. Harmsen MB, et al. Among authors: zenker m. Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277062 Free PMC article.
384 results