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10.1111/j.1399-0004.2012.01875.x http://scihub22266oqcxt.onion/10.1111/j.1399-0004.2012.01875.x 22420426!ä!22420426 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Clin+Genet 2013 ; 83 (2): 181-6 Nephropedia Template TP {{tp|p=22420426|t=2013. Clinical and molecular analysis of RASopathies in a group of Turkish patients |pdf=|usr=}}{{22420426}} gab.com Text Clinical and molecular analysis of RASopathies in a group of Turkish patients JO: Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=22420426 #FOAvip The 'RASopathies' are a group of disorders sharing many clinical features and a common pathophysiology. In this study, we aimed to clinically evaluate a group of Turkish patients and elucidate the underlying genetic etiology. Thirty-one patients with a clinical diagnosis of one of the RASopathy syndromes were included in the study. Of these, 26 (83.8%) had a clinical diagnosis of Noonan syndrome, whereas 5 had a clinical diagnosis of either Costello, LEOPARD or cardio-facio-cutaneous syndromes. Twenty of 31 (64.5%) patients were found to be mutation positive. Mutations in PTPN11, SOS1 and SHOC2 genes were detected in patients with Noonan syndrome (57.6%). Mutations in MEK1, PTPN11, BRAF and HRAS genes were detected in the remaining. Pulmonary stenosis was the most common (61.5%) cardiac anomaly. Among Noonan syndrome patients with a confirmed mutation, mild intellectual disability tended to be more common in patients with PTPN11 mutation than in those with SOS1 mutation. Hematologic evaluation revealed coagulation defects in three Noonan syndrome patients with a mutation. This is currently the largest clinical and molecular study in Turkish RASopathy patients. Our findings indicate that molecular epidemiology and genotype-phenotype correlations in RASopathies are relatively independent from the ethnic population background. Twit Text FOAVip Clinical and molecular analysis of RASopathies in a group of Turkish patients ????Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=22420426 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22420426 #FOAvip English Wikipedia <ref>{{Cite pmid|22420426}}</ref> Clinical and molecular analysis of RASopathies in a group of Turkish patients #MMPMID22420426 Simsek-Kiper PO; Alanay Y; Gulhan B; Lissewski C; Turkyilmaz D; Alehan D; Cetin M; Utine GE; Zenker M; Boduroglu K Clin Genet 2013[Feb]; 83 (2): 181-6 PMID22420426show ga The 'RASopathies' are a group of disorders sharing many clinical features and a common pathophysiology. In this study, we aimed to clinically evaluate a group of Turkish patients and elucidate the underlying genetic etiology. Thirty-one patients with a clinical diagnosis of one of the RASopathy syndromes were included in the study. Of these, 26 (83.8%) had a clinical diagnosis of Noonan syndrome, whereas 5 had a clinical diagnosis of either Costello, LEOPARD or cardio-facio-cutaneous syndromes. Twenty of 31 (64.5%) patients were found to be mutation positive. Mutations in PTPN11, SOS1 and SHOC2 genes were detected in patients with Noonan syndrome (57.6%). Mutations in MEK1, PTPN11, BRAF and HRAS genes were detected in the remaining. Pulmonary stenosis was the most common (61.5%) cardiac anomaly. Among Noonan syndrome patients with a confirmed mutation, mild intellectual disability tended to be more common in patients with PTPN11 mutation than in those with SOS1 mutation. Hematologic evaluation revealed coagulation defects in three Noonan syndrome patients with a mutation. This is currently the largest clinical and molecular study in Turkish RASopathy patients. Our findings indicate that molecular epidemiology and genotype-phenotype correlations in RASopathies are relatively independent from the ethnic population background. |*Mutation[MESH] |Abnormalities, Multiple/diagnosis/*genetics/pathology[MESH] |Costello Syndrome/diagnosis/genetics/pathology[MESH] |DNA Mutational Analysis[MESH] |Ectodermal Dysplasia/diagnosis/genetics/pathology[MESH] |Facies[MESH] |Failure to Thrive/diagnosis/genetics/pathology[MESH] |Genetic Association Studies[MESH] |Heart Defects, Congenital/diagnosis/genetics/pathology[MESH] |Humans[MESH] |Intellectual Disability/genetics[MESH] |Intracellular Signaling Peptides and Proteins/genetics[MESH] |LEOPARD Syndrome/diagnosis/genetics/pathology[MESH] |MAP Kinase Kinase 1/genetics[MESH] |Noonan Syndrome/diagnosis/genetics/pathology[MESH] |Phenotype[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11[MESH] |Proto-Oncogene Proteins B-raf/genetics[MESH] |Proto-Oncogene Proteins p21(ras)/genetics[MESH] |SOS1 Protein/genetics[MESH] |Turkey[MESH]Clinical and molecular analysis of RASopathies in a group of Turkish p(epmc).pdf DeepDyve Pubget Overpricing