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10.1159/000201106 http://scihub22266oqcxt.onion/10.1159/000201106 19258709!ä!19258709 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Horm+Res 2009 ; 71 (4): 185-93 Nephropedia Template TP {{tp|p=19258709|t=2009. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway |pdf=|usr=}}{{19258709}} gab.com Text Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway JO: Horm Res http://www.kidney.de/pget.php?&tw=1&pmid=19258709 #FOAvip Noonan syndrome (NS) is one of the most common syndromes transmitted by a mendelian mode. In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. Additionally, children with NS frequently are referred to the endocrinologist because of short stature, delayed puberty and/or undescended testes in males. In this paper, we review the diagnostic, clinical and molecular aspects of NS and NS-related disorders. Twit Text FOAVip Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway ????Horm Res http://www.kidney.de/pget.php?&tw=1&pmid=19258709 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=19258709 #FOAvip English Wikipedia <ref>{{Cite pmid|19258709}}</ref> Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway #MMPMID19258709 Jorge AA; Malaquias AC; Arnhold IJ; Mendonca BB Horm Res 2009[]; 71 (4): 185-93 PMID19258709show ga Noonan syndrome (NS) is one of the most common syndromes transmitted by a mendelian mode. In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. Additionally, children with NS frequently are referred to the endocrinologist because of short stature, delayed puberty and/or undescended testes in males. In this paper, we review the diagnostic, clinical and molecular aspects of NS and NS-related disorders. |*Genes, ras[MESH] |Diagnosis, Differential[MESH] |Female[MESH] |Germ-Line Mutation[MESH] |Human Growth Hormone/physiology[MESH] |Humans[MESH] |MAP Kinase Signaling System/*genetics/physiology[MESH] |Male[MESH] |Neoplasms/genetics[MESH] |Noonan Syndrome/diagnosis/*genetics[MESH]Noonan syndrome and related disorders: a review of clinical features a(epmc).pdf DeepDyve Pubget Overpricing