Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension

por Takashima, Tomoya, Brisset, Sophie, Furukawa, Asuka, Taniguchi, Hirohisa, Takeyasu, Rika, Kawamura, Akio, Tamura, Yuichi
Publicado 2021

Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France

por Hermann, Monika, Khoshnood, Babak, Anselem, Olivia, Bouvattier, Claire, Coussement, Aurélie, Brisset, Sophie, Benachi, Alexandra, Tsatsaris, Vassilis
Publicado 2019

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

por Naud, Marie-Emmanuelle, Tosca, Lucie, Martinovic, Jelena, Saada, Julien, Métay, Corinne, Drévillon, Loïc, Benoit, Virginie, Brisset, Sophie, Tachdjian, Gérard
Publicado 2017

Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies

por Mouka, Aurélie, Izard, Vincent, Tachdjian, Gérard, Brisset, Sophie, Yates, Frank, Mayeur, Anne, Drévillon, Loïc, Jarray, Rafika, Leboulch, Philippe, Maouche-Chrétien, Leila, Tosca, Lucie
Publicado 2017

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

por Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie
Publicado 2015

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

por Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek
Publicado 2014

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

por Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne
Publicado 2021

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells

por Mouka, Aurélie, Arkoun, Brahim, Moison, Pauline, Drévillon, Loïc, Jarray, Rafika, Brisset, Sophie, Mayeur, Anne, Bouligand, Jérôme, Boland-Auge, Anne, Deleuze, Jean-François, Yates, Frank, Lemonnier, Thomas, Callier, Patrick, Duffourd, Yannis, Nitschke, Patrick, Ollivier, Emmanuelle, Bourdin, Arnaud, De Vos, John, Livera, Gabriel, Tachdjian, Gérard, Maouche-Chrétien, Leïla, Tosca, Lucie
Publicado 2022