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10.1002/ajmg.a.38337 http://scihub22266oqcxt.onion/10.1002/ajmg.a.38337 28650561!ä!28650561 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 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 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2017 ; 173 (9): 2346-2352 Nephropedia Template TP {{tp|p=28650561|t=2017. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype |pdf=|usr=}}{{28650561}} gab.com Text Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=28650561 #FOAvip RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. In RASopathy, patients with cranial deformities, further assessments may be necessary to look for craniosynostosis. Future studies should attempt to elucidate the pathogenic mechanism responsible for craniosynostosis mediated by the RAS/MAPK signaling pathway. Twit Text FOAVip Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=28650561 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28650561 #FOAvip English Wikipedia <ref>{{Cite pmid|28650561}}</ref> Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype #MMPMID28650561 Ueda K; Yaoita M; Niihori T; Aoki Y; Okamoto N Am J Med Genet A 2017[Sep]; 173 (9): 2346-2352 PMID28650561show ga RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. In RASopathy, patients with cranial deformities, further assessments may be necessary to look for craniosynostosis. Future studies should attempt to elucidate the pathogenic mechanism responsible for craniosynostosis mediated by the RAS/MAPK signaling pathway. |Adolescent[MESH] |Child[MESH] |Child, Preschool[MESH] |Craniosynostoses/*genetics/physiopathology[MESH] |Ectodermal Dysplasia/*genetics/physiopathology[MESH] |Facies[MESH] |Failure to Thrive/*genetics/physiopathology[MESH] |Female[MESH] |Heart Defects, Congenital/*genetics/physiopathology[MESH] |Humans[MESH] |Intracellular Signaling Peptides and Proteins/genetics[MESH] |Male[MESH] |Mitogen-Activated Protein Kinase Kinases/genetics[MESH] |Mutation[MESH] |Noonan Syndrome/*genetics/physiopathology[MESH] |Phenotype[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics[MESH] |Proto-Oncogene Proteins B-raf/*genetics[MESH] |Proto-Oncogene Proteins p21(ras)/*genetics[MESH] |Signal Transduction[MESH]Craniosynostosis in patients with RASopathies: Accumulating clinical e(epmc).pdf DeepDyve Pubget Overpricing