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10.1159/000350686 http://scihub22266oqcxt.onion/10.1159/000350686 C3711482!3711482!23885229     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Syndromol 2013 ; 4 (5): 227-34 Nephropedia Template TP {{tp|p=23885229|t=2013. Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients |pdf=|usr=}}{{23885229}} gab.com Text Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients JO: Mol Syndromol http://www.kidney.de/pget.php?&tw=1&pmid=23885229 #FOAvip Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphisms, short stature and congenital heart defects. The disorder is genetically heterogeneous and shows clinical overlap with other RASopathies. These syndromes are caused by mutations in a variety of genes leading to dysregulation of the RAS-MAPK pathway: PTPN11, KRAS, SOS1, RAF1, CBL, SHOC2, NRAS, BRAF, MAP2K1, MAP2K2, HRAS, NF1 and SPRED1. In this study, we conduct a genotype-phenotype analysis of 33 patients with a clinical diagnosis of NS without a PTPN11 mutation. Mutation analysis of the genes involved in RASopathies was performed, except for NF1 and SPRED1. In 14 (42%) NS patients, a mutation was found, 7 (21%) had a mutation in SOS1, 3 (9%) in RAF1 and 1 (3%) in KRAS, MAP2K2, BRAF and SHOC2 each. The phenotype of these mutation-positive cases corresponded to that described in the literature. In the cases with a BRAF and MAP2K2 mutation, the diagnosis cardio-facio-cutaneous syndrome was made. The patient with the SHOC2 mutation had features compatible with ?Noonan-like syndrome with loose anagen hair?. Three major clinical features of NS ? a typical face, short stature and a pulmonary valve stenosis ? were less frequently present in the group without a mutation. Missense mutations in genes encoding proteins of the RAS-MAPK pathway cause NS. The 3 major clinical features of NS were less frequently present in the mutation-negative patients, which stresses the importance of the syndrome-specific symptoms of the face, heart and short stature in NS. However, all mutation-negative cases met the NS criteria, indicating that the involvement of novel genes is to be expected. Twit Text FOAVip Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients ????Mol Syndromol http://www.kidney.de/pget.php?&tw=1&pmid=23885229 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23885229 #FOAvip English Wikipedia <ref>{{Cite pmid|23885229}}</ref> Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients #MMPMID23885229 Croonen E; Nillesen W; Schrander C; Jongmans M; Scheffer H; Noordam C; Draaisma J; van der Burgt I; Yntema H Mol Syndromol 2013[Jun]; 4 (5): 227-34 PMID23885229show ga Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphisms, short stature and congenital heart defects. The disorder is genetically heterogeneous and shows clinical overlap with other RASopathies. These syndromes are caused by mutations in a variety of genes leading to dysregulation of the RAS-MAPK pathway: PTPN11, KRAS, SOS1, RAF1, CBL, SHOC2, NRAS, BRAF, MAP2K1, MAP2K2, HRAS, NF1 and SPRED1. In this study, we conduct a genotype-phenotype analysis of 33 patients with a clinical diagnosis of NS without a PTPN11 mutation. Mutation analysis of the genes involved in RASopathies was performed, except for NF1 and SPRED1. In 14 (42%) NS patients, a mutation was found, 7 (21%) had a mutation in SOS1, 3 (9%) in RAF1 and 1 (3%) in KRAS, MAP2K2, BRAF and SHOC2 each. The phenotype of these mutation-positive cases corresponded to that described in the literature. In the cases with a BRAF and MAP2K2 mutation, the diagnosis cardio-facio-cutaneous syndrome was made. The patient with the SHOC2 mutation had features compatible with ?Noonan-like syndrome with loose anagen hair?. Three major clinical features of NS ? a typical face, short stature and a pulmonary valve stenosis ? were less frequently present in the group without a mutation. Missense mutations in genes encoding proteins of the RAS-MAPK pathway cause NS. The 3 major clinical features of NS were less frequently present in the mutation-negative patients, which stresses the importance of the syndrome-specific symptoms of the face, heart and short stature in NS. However, all mutation-negative cases met the NS criteria, indicating that the involvement of novel genes is to be expected. äNoonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Du(epmc).pdf DeepDyve Pubget Overpricing