Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.3390/ijms17060952 http://scihub22266oqcxt.onion/10.3390/ijms17060952 C4926485!4926485!27322245     free     free     free 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       Int+J+Mol+Sci 2016 ; 17 (6): ä Nephropedia Template TP {{tp|p=27322245|t=2016. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome |pdf=|usr=}}{{27322245}} gab.com Text Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome JO: Int J Mol Sci http://www.kidney.de/pget.php?&tw=1&pmid=27322245 #FOAvip Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties. Twit Text FOAVip Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome ????Int J Mol Sci http://www.kidney.de/pget.php?&tw=1&pmid=27322245 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27322245 #FOAvip English Wikipedia <ref>{{Cite pmid|27322245}}</ref> Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome #MMPMID27322245 Mucciolo M; Dello Russo C; D?Emidio L; Mesoraca A; Giorlandino C Int J Mol Sci 2016[Jun]; 17 (6): ä PMID27322245show ga Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties. äNext Generation Sequencing Approach in a Prenatal Case of Cardio-Facio(epmc).pdf DeepDyve Pubget Overpricing