1
TITLE: Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis  Full Text
AUTHORS: Karaghiannis, Valena; Maric, Darko; Garrec, Celine; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loic; Antunes, Vincent; Airaud, Fabrice; Aral, Bernard; Le Roy, Amandine; Corbineau, Sebastien; Mansour Hendili, Lamisse; Lesieur, Valentine; Rimbert, Antoine; Laporte, Fabien; Delamare, Marine; Rab, Mink; Bezieau, Stephane; Cassinat, Bruno; Galacteros, Frederic; Gimenez Roqueplo, Anne Paule; Burnichon, Nelly; Cario, Holger; van Wijk, Richard; Bento, Celeste; Girodon, Francois; Hoogewijis, David; Gardie, Betty; ...More
PUBLISHED: 2023, SOURCE: HAEMATOLOGICA, VOLUME: 108, ISSUE: 6
INDEXED IN: WOS
2
TITLE: 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 Couve; 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 Michael Mazzella; Fabrice Airaud; Celine Garrec; Laurence Heidet; Sabine Irtan; Elpis Mantadakis; Karim Bouchireb; Klaus Michael Debatin; Richard Redon; Stephane Bezieau; Brigitte Bressac de Paillerets; Bin Tean Teh; Francois Girodon; Maria Luigia Randi; Maria Caterina Putti; Vincent Bours; Richard VanWijk; Joachim R Goethert; Antonis Kattamis; Nicolas Janin; Celeste Bento; Jenny C Taylor; Yannick Arlot Bonnemains; Stephane Richard; Anne Paule Gimenez Roqueplo; Holger Cario; Betty Gardie; ...More
PUBLISHED: 2018, SOURCE: BLOOD, VOLUME: 132, ISSUE: 5
INDEXED IN: Scopus WOS
3
TITLE: Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases  Full Text
AUTHORS: Celeste Bento; Melanie J Percy; Betty Gardie; Tabita Magalhães Maia; Richard van Wijk; Silverio Perrotta; Fulvio Della Ragione; Helena Almeida; Cedric Rossi; François Girodon; Maria Åström; Drorit Neumann; Susanne Schnittger; Britta Landin; Milen Minkov; Maria Luigia Randi; Stéphane Richard; Nicole Casadevall; William Vainchenker; Susana Rives; Sylvie Hermouet; Leticia L Ribeiro; Mary Frances McMullin; Holger Cario; Aurelie Chauveau; Anne-Paule Gimenez-Roqueplo; Brigitte Bressac-de-Paillerets; Didem Altindirek; Felipe Lorenzo; Frederic Lambert; Harlev Dan; Sophie Gad-Lapiteau; Ana Catarina Oliveira; Cédric Rossi; Cristina Fraga; Gennadiy Taradin; Guillermo Martin-Nuñez; Helena Vitória; Herrera Diaz Aguado; Jan Palmblad; Julia Vidán; Luis Relvas; Maria Leticia Ribeiro; Maria Luigi Larocca; Maria Luigia Randi; Maria Pedro Silveira; Melanie Percy; Mor Gross; Ricardo Marques da Costa; Soheir Beshara; Tal Ben-Ami; Valérie Ugo; ...More
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 39