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.

10.1111/j.1349-7006.2000.tb00933.x http://scihub22266oqcxt.onion/10.1111/j.1349-7006.2000.tb00933.x C5926327!5926327!10761708     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=10761708&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\10761708.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Jpn+J+Cancer+Res 2000 ; 91 (2): 204-12 Nephropedia Template TP {{tp|p=10761708|t=2000. Germ?line Mutation Analysis in Patients with von Hippel?Lindau Disease in Japan: An Extended Study of 77 Families |pdf=|usr=}}{{10761708}} gab.com Text Germ line Mutation Analysis in Patients with von Hippel Lindau Disease in Japan: An Extended Study of 77 Families JO: Jpn J Cancer Res http://www.kidney.de/pget.php?&tw=1&pmid=10761708 #FOAvip We have previously reported on the analysis of germ?line mutations in Japanese von Hippel?Lindau disease (VHL) patients and found mutations in 26 families. We have now extended these studies to include an additional 41 VHL families. Germ?line mutation of the VHL, gene was screened by DNA?SSCP, direct sequencing, and Southern blot analysis. To summarize all of the data we have studied in this and our previous report, germ?line mutations have been detected in 55 of 77 (73%) (type 1: 41 / 62 (66%) and type 2: 14/15 (93%)) families. We found similarities in the nature of germ?line mutations including mutational incidence, location, and DNA substitution patterns between Japanese and Western VHL. These similarities may reflect the predominance of endogenous mutational processes. We also found several interesting characteristics in Japanese VHL. Twenty of 41 (49%) intragenic mutations were unique and not reported in the Western VHL. Four mutations (Arg113Stop, Gln132Stop, Leu158Val, and Cys162Tyr) previously characterized as type 1 mutations were identified in the type 2 (with pheochromocytoma) Japanese families. Genotype?phenotype correlation study suggested non?missense mutations predicted to result in the loss of VHL function were associated with the occurrence of renal cell carcinoma, as in sporadic tumors. Our data add to the diversity of VHL germ?line mutations and provide a better understanding of VHL disease in terms of both clinical management and molecular pathogenesis. Twit Text FOAVip Germ line Mutation Analysis in Patients with von Hippel Lindau Disease in Japan: An Extended Study of 77 Families ????Jpn J Cancer Res http://www.kidney.de/pget.php?&tw=1&pmid=10761708 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=10761708 #FOAvip English Wikipedia <ref>{{Cite pmid|10761708}}</ref> Germ?line Mutation Analysis in Patients with von Hippel?Lindau Disease in Japan: An Extended Study of 77 Families #MMPMID10761708 Yoshida M; Ashida S; Kondo K; Kobayashi K; Kanno H; Shinohara N; Shitara N; Kishida T; Kawakami S; Baba M; Yamamoto I; Hosaka M; Shuin T; Yao M Jpn J Cancer Res 2000[Feb]; 91 (2): 204-12 PMID10761708show ga We have previously reported on the analysis of germ?line mutations in Japanese von Hippel?Lindau disease (VHL) patients and found mutations in 26 families. We have now extended these studies to include an additional 41 VHL families. Germ?line mutation of the VHL, gene was screened by DNA?SSCP, direct sequencing, and Southern blot analysis. To summarize all of the data we have studied in this and our previous report, germ?line mutations have been detected in 55 of 77 (73%) (type 1: 41 / 62 (66%) and type 2: 14/15 (93%)) families. We found similarities in the nature of germ?line mutations including mutational incidence, location, and DNA substitution patterns between Japanese and Western VHL. These similarities may reflect the predominance of endogenous mutational processes. We also found several interesting characteristics in Japanese VHL. Twenty of 41 (49%) intragenic mutations were unique and not reported in the Western VHL. Four mutations (Arg113Stop, Gln132Stop, Leu158Val, and Cys162Tyr) previously characterized as type 1 mutations were identified in the type 2 (with pheochromocytoma) Japanese families. Genotype?phenotype correlation study suggested non?missense mutations predicted to result in the loss of VHL function were associated with the occurrence of renal cell carcinoma, as in sporadic tumors. Our data add to the diversity of VHL germ?line mutations and provide a better understanding of VHL disease in terms of both clinical management and molecular pathogenesis. �Germ?line Mutation Analysis in Patients with von Hippel?Lindau Disease(epmc).pdf DeepDyve Pubget Overpricing