Two novel GJA1 variants in oculodentodigital dysplasia

por Pace, Nikolai P., Benoit, Valerie, Agius, David, Grima, Maria Angela, Parascandalo, Raymond, Hilbert, Pascale, Borg, Isabella
Publicado 2019

Genotype and Outcome After Kidney Transplantation in Alport Syndrome

por Gillion, Valentine, Dahan, Karin, Cosyns, Jean-Pierre, Hilbert, Pascale, Jadoul, Michel, Goffin, Eric, Godefroid, Nathalie, De Meyer, Martine, Mourad, Michel, Pirson, Yves, Kanaan, Nada
Publicado 2018

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

por Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Cerkauskaite, Agne, Savige, Judy
Publicado 2022

Identification by array comparative genomic hybridization of a new amplicon on chromosome 17q highly recurrent in BRCA1 mutated triple negative breast cancer

por Toffoli, Sébastien, Bar, Isabelle, Abdel-Sater, Fadi, Delrée, Paul, Hilbert, Pascale, Cavallin, Frédéric, Moreau, Fabrice, Van Criekinge, Wim, Lacroix-Triki, Magali, Campone, Mario, Martin, Anne-Laure, Roché, Henri, Machiels, Jean-Pascal, Carrasco, Javier, Canon, Jean-Luc
Publicado 2014

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

por Savige, Judith, Storey, Helen, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet, Torra, Roser, Hertz, Jens Michael, Thomassen, Mads, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato
Publicado 2016

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021