Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Radio, Francesca Clementina, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Digilio, Maria Cristina, Cave, Hélène, Tartaglia, Marco, Zenker, Martin
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Journal Article
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder
Arfeuille, Chloé, Vial, Yoann, Cadenet, Margaux, Caye-Eude, Aurélie, Fenneteau, Odile, Neven, Quentin, Bonnard, Adeline A, Pizzi, Simone, Carpentieri, Giovanna, Capri, Yline, Girardi, Katia, Pedace, Lucia, Macchiaiolo, Marina, Boudhar, Kamel, Khaled, Monia ben, Chahla, Wadih Abou, Lutun, Anne, Fahd, Mony, Drunat, Séverine, Flex, Elisabetta, Dalle, Jean-Hugues, Strullu, Marion, Locatelli, Franco, Tartaglia, Marco, Cavé, Hélène
Published in Haematologica (Roma) (16.11.2023)
Published in Haematologica (Roma) (16.11.2023)
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Journal Article
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Journal Article
Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome
Vial, Yoann, Lachenaud, Julie, Verloes, Alain, Besnard, Marianne, Fenneteau, Odile, Lainey, Elodie, Marceau-Renaut, Alice, Preudhomme, Claude, Baruchel, André, Cavé, Hélène, Drunat, Séverine
Published in Haematologica (Roma) (01.06.2018)
Published in Haematologica (Roma) (01.06.2018)
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Journal Article
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study
Le Bourgeois, Fleur, Beltrand, Jacques, Baz, Baz, Julla, Jean-Baptiste, Riveline, Jean-Pierre, Simon, Albane, Flechtner, Isabelle, Ait Djoudi, Malek, Fauret-Amsellem, Anne-Laure, Vial, Yoann, Scharfmann, Raphael, Sommet, Julie, Boudou, Philippe, Cavé, Hélène, Polak, Michel, Gautier, Jean-François, Busiah, Kanetee
Published in Diabetes care (01.06.2020)
Published in Diabetes care (01.06.2020)
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Journal Article
Cherubism as a systemic skeletal disease: evidence from an aggressive case
Morice, Anne, Joly, Aline, Ricquebourg, Manon, Maruani, Gérard, Durand, Emmanuel, Galmiche, Louise, Amiel, Jeanne, Vial, Yoann, Cavé, Hélène, Belhous, Kahina, Piketty, Marie, Cohen-Solal, Martine, Berdal, Ariane, Collet, Corinne, Picard, Arnaud, Coudert, Amelie E, Kadlub, Natacha
Published in BMC musculoskeletal disorders (21.08.2020)
Published in BMC musculoskeletal disorders (21.08.2020)
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Journal Article
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant
Galderisi, Alfonso, Kermorvant‐Duchemin, Elsa, Daruich, Alejandra, Bonnard, Adeline Alice, Lapillonne, Alexandre, Aubelle, Marie‐Stéphanie, Perrella, Bruna, Vial, Yoann, Cave, Héléne, Berdugo, Marianne, Jarreau, Pierre‐Henri, Polak, Michel, Beltrand, Jacques
Published in JIMD reports (01.03.2023)
Published in JIMD reports (01.03.2023)
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Journal Article
Partitioning for Easy Multiplexing
Kinoo, Alexia, Caye-Eude, Aurélie, Vial, Yoann, Cavé, Hélène, Arfeuille, Chloé
Published in The Journal of molecular diagnostics : JMD (01.08.2023)
Published in The Journal of molecular diagnostics : JMD (01.08.2023)
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Journal Article
Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis
Vial, Yoann, Nardelli, Jeannette, Bonnard, Adeline A, Rousselot, Justine, Souyri, Michèle, Gressens, Pierre, Cavé, Hélène, Drunat, Séverine
Published in EMBO reports (14.05.2024)
Published in EMBO reports (14.05.2024)
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Journal Article
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
Vial, Yoann, Lainey, Elodie, Leblanc, Thierry, Baudouin, Véronique, Dourthe, Marie Emilie, Gressens, Pierre, Verloes, Alain, Cavé, Hélène, Drunat, Séverine
Published in British journal of haematology (01.12.2022)
Published in British journal of haematology (01.12.2022)
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Journal Article
Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia
Faggetter, Sarah, Ferster, Alina, Dedeken, Laurence, Demulder, Anne, David‐Nguyen, Ludvine, Fenneteau, Odile, Parisot, Melanie, Nitschke, Patrick, Vial, Yoann, Da Costa, Lydie
Published in Pediatric blood & cancer (01.04.2023)
Published in Pediatric blood & cancer (01.04.2023)
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Journal Article
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Vezain, Myriam, Thauvin-Robinet, Christel, Vial, Yoann, Coutant, Sophie, Drunat, Séverine, Urtizberea, Jon Andoni, Rolland, Anne, Jacquin-Piques, Agnès, Fehrenbach, Séverine, Nicolas, Gaël, Lecoquierre, François, Saugier-Veber, Pascale
Published in Human genetics (2022)
Published in Human genetics (2022)
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Journal Article
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy
Vezain, Myriam, Thauvin-Robinet, Christel, Vial, Yoann, Coutant, Sophie, Drunat, Séverine, Urtizberea, Jon Andoni, Rolland, Anne, Jacquin-Piques, Agnès, Fehrenbach, Séverine, Nicolas, Gaël, Lecoquierre, François, Saugier-Veber, Pascale
Published in Human genetics (2023)
Published in Human genetics (2023)
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Journal Article
Expanding the phenotype of GTF2E2‐associated trichothiodystrophy
Sperelakis‐Beedham, Brian, Ruaud, Lyse, Vial, Yoann, Rachid, Myriam, Ageorges, Faustine, Goujon, Louise, Verloes, Alain, Tabet, Anne‐Claude, Bourrat, Emmanuelle, Lévy, Jonathan
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2024)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2024)
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Journal Article
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
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Journal Article
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study
Semeraro, Michaela, Fouquet, Cyrielle, Vial, Yoann, Amiel, Jeanne, Galmiche, Louise, Cretolle, Célia, Blanc, Thomas, Jolaine, Valérie, Garcelon, Nicolas, Entz-Werle, Natacha, Pellier, Isabelle, Vérité, Cécile, Coulomb, Aurore, Petit, Arnaud, Corradini, Nadège, Bouazza, Naim, Lacour, Brigitte, Clavel, Jacqueline, Brugières, Laurence, Bourdeaut, Franck, Sarnacki, Sabine
Published in The Journal of pediatrics (01.08.2023)
Published in The Journal of pediatrics (01.08.2023)
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Journal Article
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study
Semeraro, Michaela, Fouquet, Cyrielle, Vial, Yoann, Amiel, Jeanne, Galmiche, Louise, Cretolle, Célia, Blanc, Thomas, Jolaine, Valérie, Garcelon, Nicolas, Entz-Werle, Natacha, Pellier, Isabelle, Vérité, Cécile, Coulomb, Aurore, Petit, Arnaud, Corradini, Nadège, Bouazza, Naim, Lacour, Brigitte, Clavel, Jacqueline, Brugières, Laurence, Bourdeaut, Franck, Sarnacki, Sabine
Published in The Journal of pediatrics (01.08.2023)
Published in The Journal of pediatrics (01.08.2023)
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Journal Article
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study
Semeraro, Michaela, Fouquet, Cyrielle, Vial, Yoann, Amiel, Jeanne, Galmiche, Louise, Cretolle, Célia, Blanc, Thomas, Jolaine, Valérie, Garcelon, Nicolas, Entz-Werle, Natacha, Pellier, Isabelle, Vérité, Cécile, Sophie Taque, Coulomb, Aurore, Petit, Arnaud, Corradini, Nadège, Bouazza, Naim, Lacour, Brigitte, Clavel, Jacqueline, Brugières, Laurence, Bourdeaut, Franck, Sarnacki, Sabine
Published in The Journal of pediatrics (01.08.2023)
Published in The Journal of pediatrics (01.08.2023)
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Journal Article