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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: kalscheuer vm. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870
The MAS proto-oncogene is not imprinted in humans.
Riesewijk AM, Schepens MT, Mariman EM, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Genomics. 1996 Jul 15;35(2):380-2. doi: 10.1006/geno.1996.0372. Genomics. 1996. PMID: 8661154 Free article.
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BC, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Eur J Hum Genet. 1998 Mar-Apr;6(2):114-20. doi: 10.1038/sj.ejhg.5200164. Eur J Hum Genet. 1998. PMID: 9781054
205 results