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10.1007/s00439-002-0803-6 http://scihub22266oqcxt.onion/10.1007/s00439-002-0803-6 12384786!ä!12384786 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Genet 2002 ; 111 (4-5): 421-7 Nephropedia Template TP {{tp|p=12384786|t=2002. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome |pdf=|usr=}}{{12384786}} gab.com Text Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome JO: Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=12384786 #FOAvip CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous abnormalities, Noonan-like facial features and severe psychomotor developmental delay. We have recently demonstrated that Noonan syndrome can be caused by missense mutations in PTPN11(MIM 176876), a gene that encodes the non-receptor protein tyrosine phosphatase SHP-2. In this report, we have evaluated the possible involvement of mutations in PTPN11 in CFC syndrome. A cohort of 28 CFC subjects rigorously assessed as having CFC based on OMIM diagnostic criteria was examined for mutations in the PTPN11 coding sequence by using DHPLC analysis. The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome. Twit Text FOAVip Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome ????Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=12384786 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=12384786 #FOAvip English Wikipedia <ref>{{Cite pmid|12384786}}</ref> Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome #MMPMID12384786 Ion A; Tartaglia M; Song X; Kalidas K; van der Burgt I; Shaw AC; Ming JE; Zampino G; Zackai EH; Dean JC; Somer M; Parenti G; Crosby AH; Patton MA; Gelb BD; Jeffery S Hum Genet 2002[Oct]; 111 (4-5): 421-7 PMID12384786show ga CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous abnormalities, Noonan-like facial features and severe psychomotor developmental delay. We have recently demonstrated that Noonan syndrome can be caused by missense mutations in PTPN11(MIM 176876), a gene that encodes the non-receptor protein tyrosine phosphatase SHP-2. In this report, we have evaluated the possible involvement of mutations in PTPN11 in CFC syndrome. A cohort of 28 CFC subjects rigorously assessed as having CFC based on OMIM diagnostic criteria was examined for mutations in the PTPN11 coding sequence by using DHPLC analysis. The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome. |*Mutation, Missense[MESH] |Abnormalities, Multiple/*genetics[MESH] |Base Sequence[MESH] |DNA Primers[MESH] |Face/*abnormalities[MESH] |Heart Defects, Congenital/*genetics[MESH] |Humans[MESH] |Noonan Syndrome/genetics[MESH] |Skin Abnormalities/*genetics[MESH]Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) (epmc).pdf DeepDyve Pubget Overpricing