Literature DB >> 36221028

Commentary: Von Hippel-Lindau disease: A clinical and scientific review.

Malak Abedalthagafi1.   

Abstract

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Year:  2022        PMID： 36221028      PMCID： PMC9553946          DOI： 10.1038/s41431-022-01172-0

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


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  8 in total

1.  Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

Authors:  A H Prowse; A R Webster; F M Richards; S Richard; S Olschwang; F Resche; N A Affara; E R Maher
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

2.  Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

Authors:  Lucie Coppin; Pascal Plouvier; Michel Crépin; Anne-Sophie Jourdain; Emilie Ait Yahya; Stéphane Richard; Brigitte Bressac-de Paillerets; Catherine Cardot-Bauters; Sophie Lejeune; Julie Leclerc; Pascal Pigny
Journal:  J Mol Diagn       Date:  2019-02-05       Impact factor: 5.568

3.  Genotype-phenotype correlations in von Hippel-Lindau disease.

Authors:  Kai Ren Ong; Emma R Woodward; Pip Killick; Caron Lim; Fiona Macdonald; Eamonn R Maher
Journal:  Hum Mutat       Date:  2007-02       Impact factor: 4.878

Review 4.  von Hippel-Lindau disease: a clinical and scientific review.

Authors:  Eamonn R Maher; Hartmut Ph Neumann; Stéphane Richard
Journal:  Eur J Hum Genet       Date:  2011-03-09       Impact factor: 4.246

5.  Clinical features and natural history of von Hippel-Lindau disease.

Authors:  E R Maher; J R Yates; R Harries; C Benjamin; R Harris; A T Moore; M A Ferguson-Smith
Journal:  Q J Med       Date:  1990-11

6.  Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.

Authors:  Saleh Albanyan; Rachel H Giles; Enric Mocholi Gimeno; Josh Silver; Jillian Murphy; Hanna Faghfoury; Chantal F Morel; Jerry Machado; Raymond H Kim
Journal:  Eur J Med Genet       Date:  2018-07-10       Impact factor: 2.708

7.  Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Authors:  Marion Lenglet; Florence Robriquet; Klaus Schwarz; Carme Camps; Anne Couturier; David Hoogewijs; Alexandre Buffet; Samantha J L Knight; Sophie Gad; Sophie Couvé; Franck Chesnel; Mathilde Pacault; Pierre Lindenbaum; Sylvie Job; Solenne Dumont; Thomas Besnard; Marine Cornec; Helene Dreau; Melissa Pentony; Erika Kvikstad; Sophie Deveaux; Nelly Burnichon; Sophie Ferlicot; Mathias Vilaine; Jean-Michaël Mazzella; Fabrice Airaud; Céline Garrec; Laurence Heidet; Sabine Irtan; Elpis Mantadakis; Karim Bouchireb; Klaus-Michael Debatin; Richard Redon; Stéphane Bezieau; Brigitte Bressac-de Paillerets; Bin Tean Teh; François Girodon; Maria-Luigia Randi; Maria Caterina Putti; Vincent Bours; Richard Van Wijk; Joachim R Göthert; Antonis Kattamis; Nicolas Janin; Celeste Bento; Jenny C Taylor; Yannick Arlot-Bonnemains; Stéphane Richard; Anne-Paule Gimenez-Roqueplo; Holger Cario; Betty Gardie
Journal:  Blood       Date:  2018-06-11       Impact factor: 22.113

8.  VHLdb: A database of von Hippel-Lindau protein interactors and mutations.

Authors:  Francesco Tabaro; Giovanni Minervini; Faiza Sundus; Federica Quaglia; Emanuela Leonardi; Damiano Piovesan; Silvio C E Tosatto
Journal:  Sci Rep       Date:  2016-08-11       Impact factor: 4.379
  8 in total

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