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10.1016/j.ejmg.2009.04.006 http://scihub22266oqcxt.onion/10.1016/j.ejmg.2009.04.006 19416762!ä!19416762 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 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Med+Genet 2009 ; 52 (5): 337-40 Nephropedia Template TP {{tp|p=19416762|t=2009. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence |pdf=|usr=}}{{19416762}} gab.com Text Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence JO: Eur J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=19416762 #FOAvip Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade. There are strong genotype-phenotype correlations. BRAF is the major gene for cardio-facio-cutaneous syndrome (CFCS), and usually patients with a BRAF mutation have significant cognitive impairment. We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. The mutation p.L245F was demonstrated to be de novo with no evidence of somatic mosaicism. This observation illustrates that the phenotypic spectrum caused by BRAF mutations is broader than previously assumed and that mental retardation is not necessarily associated. We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. Twit Text FOAVip Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence ????Eur J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=19416762 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=19416762 #FOAvip English Wikipedia <ref>{{Cite pmid|19416762}}</ref> Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence #MMPMID19416762 Koudova M; Seemanova E; Zenker M Eur J Med Genet 2009[Sep]; 52 (5): 337-40 PMID19416762show ga Noonan syndrome (NS) and related disorders are caused by mutations in various genes encoding molecules involved in the RAS-MAPK signalling cascade. There are strong genotype-phenotype correlations. BRAF is the major gene for cardio-facio-cutaneous syndrome (CFCS), and usually patients with a BRAF mutation have significant cognitive impairment. We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. The mutation p.L245F was demonstrated to be de novo with no evidence of somatic mosaicism. This observation illustrates that the phenotypic spectrum caused by BRAF mutations is broader than previously assumed and that mental retardation is not necessarily associated. We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. |*Mutation[MESH] |Abnormalities, Multiple/*genetics[MESH] |Adolescent[MESH] |Amino Acid Sequence[MESH] |Amino Acid Substitution[MESH] |Conserved Sequence[MESH] |DNA Mutational Analysis[MESH] |DNA/genetics/isolation & purification[MESH] |Facies[MESH] |Heart Defects, Congenital/*genetics[MESH] |Humans[MESH] |LEOPARD Syndrome/*genetics[MESH] |Leucine/metabolism[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Noonan Syndrome/genetics[MESH] |Proto-Oncogene Proteins B-raf/*genetics[MESH]Novel BRAF mutation in a patient with LEOPARD syndrome and normal inte(epmc).pdf DeepDyve Pubget Overpricing