Literature DB >> 12624160

High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

J C C Rocha1, R L A Silva, B B Mendonça, S Marui, A J G Simpson, A A Camargo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12624160      PMCID： PMC1735383          DOI： 10.1136/jmg.40.3.e31

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  8 in total

1.  Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation.

Authors:  Min Zhang; Jie Wang; Jingjing Jiang; Xiaohui Zhan; Yan Ling; Zhiqiang Lu; Jianming Guo; Xin Gao
Journal:  Endocrine       Date:  2014-07-29       Impact factor: 3.633

2.  Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.

Authors:  Nilesh Lomte; Sanjeet Kumar; Vijaya Sarathi; Reshma Pandit; Manjunath Goroshi; Swati Jadhav; Anurag R Lila; Tushar Bandgar; Nalini S Shah
Journal:  Fam Cancer       Date:  2018-07       Impact factor: 2.375

3.  Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

Authors:  Israel Gomy; Greice Andreotti Molfetta; Ester de Andrade Barreto; Cristiane Ayres Ferreira; Dalila Luciola Zanette; José Cláudio Casali-da-Rocha; Wilson Araujo Silva
Journal:  Fam Cancer       Date:  2010-12       Impact factor: 2.375

4.  A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?

Authors:  Fatemeh Azimi; Ali Aghajani; Golnaz Khakpour; Samira Chaibakhsh
Journal:  Mol Genet Genomics       Date:  2022-08-25       Impact factor: 2.980

5.  Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease compared to sporadic bilateral or multifocal renal cell carcinoma.

Authors:  Won Tae Kim; Won Sik Ham; Hee Jeong Ju; Jin Sun Lee; Jin Sung Lee; Young Deuk Choi
Journal:  J Korean Med Sci       Date:  2009-11-09       Impact factor: 2.153

6.  Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

Authors:  Sena Hwang; Cheol Ryong Ku; Ji In Lee; Kyu Yeon Hur; Myung-Shik Lee; Chul-Ho Lee; Kyo Yeon Koo; Jin-Sung Lee; Yumie Rhee
Journal:  J Hum Genet       Date:  2014-07-31       Impact factor: 3.172

7.  Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.

Authors:  Qiuli Liu; Gang Yuan; Dali Tong; Gaolei Liu; Yuting Yi; Jun Zhang; Yao Zhang; Lin-Ang Wang; Luofu Wang; Dianzheng Zhang; Rongrong Chen; Yanfang Guan; Xin Yi; Weihua Lan; Jun Jiang
Journal:  Endocr Connect       Date:  2018-06-05       Impact factor: 3.335

8.  Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

Authors:  Hyun-Jung Cho; Chang-Seok Ki; Jong-Won Kim
Journal:  J Korean Med Sci       Date:  2009-02-28       Impact factor: 2.153
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.