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10.1038/sj.ejhg.5200935 http://scihub22266oqcxt.onion/10.1038/sj.ejhg.5200935 12634870!ä!12634870 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=12634870&cmd=llinks): Failed to open stream: HTTP request failed! 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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 |pdf=|usr=}}{{12634870}} gab.com Text Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=12634870 #FOAvip Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate short stature, dysmorphic face, and congenital heart defects. Only recently, a gene involved in NS could be identified. It encodes the non-receptor protein tyrosine phosphatase SHP-2, which is an important molecule in several intracellular signal transduction pathways that control diverse developmental processes, most importantly cardiac semilunar valvulogenesis. We have screened this gene for mutations in 96 familial and sporadic, well-characterised NS patients and identified 15 different missense mutations in a total of 32 patients (33%), including 23 index patients. Most changes clustered in one exon which encodes parts of the N-SH2 domain. Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS. Twit Text FOAVip Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=12634870 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=12634870 #FOAvip English Wikipedia <ref>{{Cite pmid|12634870}}</ref> Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome #MMPMID12634870 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 Eur J Hum Genet 2003[Feb]; 11 (2): 201-6 PMID12634870show ga Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate short stature, dysmorphic face, and congenital heart defects. Only recently, a gene involved in NS could be identified. It encodes the non-receptor protein tyrosine phosphatase SHP-2, which is an important molecule in several intracellular signal transduction pathways that control diverse developmental processes, most importantly cardiac semilunar valvulogenesis. We have screened this gene for mutations in 96 familial and sporadic, well-characterised NS patients and identified 15 different missense mutations in a total of 32 patients (33%), including 23 index patients. Most changes clustered in one exon which encodes parts of the N-SH2 domain. Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS. |DNA Mutational Analysis[MESH] |Female[MESH] |Genotype[MESH] |Humans[MESH] |Intracellular Signaling Peptides and Proteins[MESH] |Male[MESH] |Noonan Syndrome/*genetics[MESH] |Phenotype[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11[MESH] |Protein Tyrosine Phosphatases/*genetics[MESH]Spectrum of mutations in PTPN11 and genotype-phenotype correlation in (epmc).pdf DeepDyve Pubget Overpricing