Literature DB >> 12114495

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

C Cybulski1, K Krzystolik, A Murgia, B Górski, T Debniak, A Jakubowska, M Martella, G Kurzawski, M Prost, I Kojder, J Limon, P Nowacki, L Sagan, B Białas, J Kałuza, M Zdunek, A Omulecka, D Jaskólski, E Kostyk, B Koraszewska-Matuszewska, O Haus, H Janiszewska, K Pecold, M Starzycka, R Słomski, M Cwirko, A Sikorski, B Gliniewicz, L Cyryłowski, Ł Fiszer-Maliszewska, J Gronwald, A Tołoczko-Grabarek, S Zajaczek, J Lubiński.   

Abstract

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Year:  2002        PMID： 12114495      PMCID： PMC1735187          DOI： 10.1136/jmg.39.7.e38

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


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  21 in total

1.  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

2.  Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.

Authors:  Dexuan Ma; Jingyun Yang; Ying Wang; Xiang Huang; Guhong Du; Liangfu Zhou
Journal:  Am J Med Genet A       Date:  2017-07-25       Impact factor: 2.802

3.  Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.

Authors:  Marie Louise Mølgaard Binderup; Michael Galanakis; Esben Budtz-Jørgensen; Michael Kosteljanetz; Marie Luise Bisgaard
Journal:  Eur J Hum Genet       Date:  2016-12-14       Impact factor: 4.246

4.  Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

Authors:  Cezary Cybulski; Joanna Matyjasik; Marianna Soroka; Janusz Szymaś; Bohdan Górski; Tadeusz Debniak; Anna Jakubowska; Andrzej Bernaczyk; Lech Zimnoch; Grazyna Bierzyńska-Macyszyn; Tomasz Trojanowski; Teresa Wierzba-Bobrowicz; Edmund Prudlak; Alicja Markowska-Wojciechowska; Przemysław Nowacki; Andrzej Roszkiewicz; Radzisław Kordek; Tadeusz Szylberg; Ewa Matyja; Krzysztof Zieliński; Bogdan Woźniewicz; Anna Taraszewska; Wojciech Kozłowski; Jan Lubiński
Journal:  Hered Cancer Clin Pract       Date:  2004-03-15       Impact factor: 2.857

5.  A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect.

Authors:  Jing-Shan Huang; Chih-Ming Lin; Yu-Che Cheng; Kun-Long Hung; Chih-Cheng Chien; Shao-Kuan Chen; Chih-Ju Chang; Chan-Wei Chen; Chi-Jung Huang
Journal:  J Mol Med (Berl)       Date:  2009-03-14       Impact factor: 4.599

6.  A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome.

Authors:  Yan Lu; Jun Lu; Qiang Liu; Jian Niu; Shi-Ming Zhang; Qing-Yu Wu; Xiao-Fei Qi
Journal:  J Neurooncol       Date:  2012-12-01       Impact factor: 4.130

7.  Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

Authors:  Jin Zhang; Yiran Huang; Jiahua Pan; Dongming Liu; Lixin Zhou; Wei Xue; Qi Chen; Baijun Dong; Hanqing Xuan
Journal:  J Cancer Res Clin Oncol       Date:  2008-04-30       Impact factor: 4.553

8.  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

9.  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

10.  DNA and RNA analyses in detection of genetic predisposition to cancer.

Authors:  Joanna Matyjasik; Bartlomiej Masojc; Grzegorz Kurzawski
Journal:  Hered Cancer Clin Pract       Date:  2008-06-15       Impact factor: 2.857
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