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10.1111/j.1365-2133.2010.10122.x http://scihub22266oqcxt.onion/10.1111/j.1365-2133.2010.10122.x C4063552!4063552!21062266     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       Br+J+Dermatol 2011 ; 164 (3): 521-9 Nephropedia Template TP {{tp|p=21062266|t=2011. Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome |pdf=|usr=}}{{21062266}} gab.com Text Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome JO: Br J Dermatol http://www.kidney.de/pget.php?&tw=1&pmid=21062266 #FOAvip Background: The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/MAPK pathway. Cardio-facio-cutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. Objective: To systematically characterize the spectrum of dermatologic findings in mutation-positive individuals with cardio-facio-cutaneous (CFC) syndrome. Methods: Dermatologic surveys were designed by the authors and distributed to the study participants through CFC International or directly by the authors (KAR and DHS) between July 2006 and August 2009. A second follow up survey was collected between December 2007 and August 2009. When available, digital images and medical records of the participants were obtained. Study participants included individuals with CFC who have a mutation in BRAF, MEK1, MEK2 or KRAS. Results: Individuals with CFC have a variety of dermatologic manifestations caused by dysregulation of the mitogen-activated protein kinase pathway in development. Numerous acquired melanocytic nevi were one of the most striking features; greater than 50 nevi were reported by 23 % (14/61) of participants and of those, greater than 100 nevi were reported by 36% (5/14). Keratosis pilaris was reported in 80% (49/61) of cases. Ulerythema ophryogenes was common occurring in 55/61 (90%). Infantile hemangiomas occurred at a greater frequency, 26% (16/61), as compared to the general population. Conclusions: CFC syndrome has a complex dermatologic phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café au lait macules and papillomata were not identified in this CFC cohort helping to distinguish CFC from other RASopathies, such as neurofibromatosis type 1 and Costello syndrome. Twit Text FOAVip Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome ????Br J Dermatol http://www.kidney.de/pget.php?&tw=1&pmid=21062266 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21062266 #FOAvip English Wikipedia <ref>{{Cite pmid|21062266}}</ref> Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome #MMPMID21062266 Siegel D; McKenzie J; Frieden I; Rauen K Br J Dermatol 2011[Mar]; 164 (3): 521-9 PMID21062266show ga Background: The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/MAPK pathway. Cardio-facio-cutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair. Objective: To systematically characterize the spectrum of dermatologic findings in mutation-positive individuals with cardio-facio-cutaneous (CFC) syndrome. Methods: Dermatologic surveys were designed by the authors and distributed to the study participants through CFC International or directly by the authors (KAR and DHS) between July 2006 and August 2009. A second follow up survey was collected between December 2007 and August 2009. When available, digital images and medical records of the participants were obtained. Study participants included individuals with CFC who have a mutation in BRAF, MEK1, MEK2 or KRAS. Results: Individuals with CFC have a variety of dermatologic manifestations caused by dysregulation of the mitogen-activated protein kinase pathway in development. Numerous acquired melanocytic nevi were one of the most striking features; greater than 50 nevi were reported by 23 % (14/61) of participants and of those, greater than 100 nevi were reported by 36% (5/14). Keratosis pilaris was reported in 80% (49/61) of cases. Ulerythema ophryogenes was common occurring in 55/61 (90%). Infantile hemangiomas occurred at a greater frequency, 26% (16/61), as compared to the general population. Conclusions: CFC syndrome has a complex dermatologic phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café au lait macules and papillomata were not identified in this CFC cohort helping to distinguish CFC from other RASopathies, such as neurofibromatosis type 1 and Costello syndrome. äDermatologic Findings in 61 Mutation-Positive Individuals with Cardio-(epmc).pdf DeepDyve Pubget Overpricing