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10.1016/j.jpeds.2011.05.024 http://scihub22266oqcxt.onion/10.1016/j.jpeds.2011.05.024 21784453!ä!21784453 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr 2011 ; 159 (6): 1029-35 Nephropedia Template TP {{tp|p=21784453|t=2011. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes |pdf=|usr=}}{{21784453}} gab.com Text Spectrum of mutations in Noonan syndrome and their correlation with phenotypes JO: J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=21784453 #FOAvip OBJECTIVES: To investigate mutation spectrums and their correlations to phenotypes in Noonan syndrome (NS) and NS-related disorders that share functional alterations of the Ras-mitogen-activated protein kinase pathway. STUDY DESIGN: Clinical characteristics and genotypes of 10 previously known and 2 candidate genes, SPRY1-4 and SPRED1, were investigated in 59 patients with NS, 17 with cardiofaciocutaneous syndrome, 5 with Costello syndrome, and 2 with LEOPARD syndrome. RESULTS: PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. No additional mutations were identified in 28.9% of NS and 35.3% of cardiofaciocutaneous syndrome. Functional characterizations of 2 RAF1 novel variants, p.P261T and p.S259T, and one SOS1 variant, p.K170E, showed enhanced activity of Ras-mitogen-activated protein kinase pathway. Normal stature was frequent in SOS1 mutations, hypertrophic cardiomyopathy in RAF1, and developmental delay in RAF1, BRAF, or SHOC2 mutations. CONCLUSIONS: By identifying genotype-phenotype correlations, our study highlights the role of molecular genetic testing in the process of differential diagnosis of NS and NS-related disorders. Pathophysiologies that underlie these correlations are needed to be investigated in terms of their effects on Ras-mitogen-activated protein kinase pathway. Twit Text FOAVip Spectrum of mutations in Noonan syndrome and their correlation with phenotypes ????J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=21784453 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21784453 #FOAvip English Wikipedia <ref>{{Cite pmid|21784453}}</ref> Spectrum of mutations in Noonan syndrome and their correlation with phenotypes #MMPMID21784453 Lee BH; Kim JM; Jin HY; Kim GH; Choi JH; Yoo HW J Pediatr 2011[Dec]; 159 (6): 1029-35 PMID21784453show ga OBJECTIVES: To investigate mutation spectrums and their correlations to phenotypes in Noonan syndrome (NS) and NS-related disorders that share functional alterations of the Ras-mitogen-activated protein kinase pathway. STUDY DESIGN: Clinical characteristics and genotypes of 10 previously known and 2 candidate genes, SPRY1-4 and SPRED1, were investigated in 59 patients with NS, 17 with cardiofaciocutaneous syndrome, 5 with Costello syndrome, and 2 with LEOPARD syndrome. RESULTS: PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. No additional mutations were identified in 28.9% of NS and 35.3% of cardiofaciocutaneous syndrome. Functional characterizations of 2 RAF1 novel variants, p.P261T and p.S259T, and one SOS1 variant, p.K170E, showed enhanced activity of Ras-mitogen-activated protein kinase pathway. Normal stature was frequent in SOS1 mutations, hypertrophic cardiomyopathy in RAF1, and developmental delay in RAF1, BRAF, or SHOC2 mutations. CONCLUSIONS: By identifying genotype-phenotype correlations, our study highlights the role of molecular genetic testing in the process of differential diagnosis of NS and NS-related disorders. Pathophysiologies that underlie these correlations are needed to be investigated in terms of their effects on Ras-mitogen-activated protein kinase pathway. |*Mutation[MESH] |*Phenotype[MESH] |Adolescent[MESH] |Adult[MESH] |Child[MESH] |Child, Preschool[MESH] |Diagnosis, Differential[MESH] |Female[MESH] |Humans[MESH] |Infant[MESH] |Male[MESH] |Molecular Diagnostic Techniques[MESH] |Noonan Syndrome/diagnosis/*genetics[MESH]Spectrum of mutations in Noonan syndrome and their correlation with ph(epmc).pdf DeepDyve Pubget Overpricing