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.

10.1002/ajmg.a.36005 http://scihub22266oqcxt.onion/10.1002/ajmg.a.36005 23813970!ä!23813970 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       Am+J+Med+Genet+A 2013 ; 161A (8): 2027-9 Nephropedia Template TP {{tp|p=23813970|t=2013. Medulloblastoma in a patient with the PTPN11 p Thr468Met mutation |pdf=|usr=}}{{23813970}} gab.com Text Medulloblastoma in a patient with the PTPN11 p Thr468Met mutation JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=23813970 #FOAvip Medulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome), Costello syndrome, Cardiofaciocutaneous syndrome, Legius syndrome, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies. Although an association between medulloblastoma and NF1 has been reported, this tumor has not previously been reported in other RASopathies. We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. Medulloblastoma could therefore be part of the tumor spectrum associated with this disorder. Twit Text FOAVip Medulloblastoma in a patient with the PTPN11 p Thr468Met mutation ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=23813970 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23813970 #FOAvip English Wikipedia <ref>{{Cite pmid|23813970}}</ref> Medulloblastoma in a patient with the PTPN11 p Thr468Met mutation #MMPMID23813970 Rankin J; Short J; Turnpenny P; Castle B; Hanemann CO Am J Med Genet A 2013[Aug]; 161A (8): 2027-9 PMID23813970show ga Medulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome), Costello syndrome, Cardiofaciocutaneous syndrome, Legius syndrome, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies. Although an association between medulloblastoma and NF1 has been reported, this tumor has not previously been reported in other RASopathies. We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. Medulloblastoma could therefore be part of the tumor spectrum associated with this disorder. |Adult[MESH] |DNA/analysis/genetics[MESH] |Humans[MESH] |LEOPARD Syndrome/complications/*genetics[MESH] |Male[MESH] |Medulloblastoma/*etiology/pathology[MESH] |Middle Aged[MESH] |Mutation/*genetics[MESH] |Phenotype[MESH] |Polymerase Chain Reaction[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics[MESH]Medulloblastoma in a patient with the PTPN11 p Thr468Met mutation (epmc).pdf DeepDyve Pubget Overpricing