Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Yazar: Polak, Michel, Cavé, Hélène
Baskı/Yayın Bilgisi 2007

IKZF1 deletions in pediatric acute lymphoblastic leukemia: still a poor prognostic marker?

Yazar: Stanulla, Martin, Cavé, Hélène, Moorman, Anthony V.
Yayımlandı Blood (2020)

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Yazar: Beneteau, Claire, Cavé, Hélène, Moncla, Anne, Dorison, Nathalie, Munnich, Arnold, Verloes, Alain, Leheup, Bruno
Baskı/Yayın Bilgisi 2009

Neonatal Diabetes Mellitus

Yazar: Beltrand, Jacques, Busiah, Kanetee, Vaivre-Douret, Laurence, Fauret, Anne Laure, Berdugo, Marianne, Cavé, Hélène, Polak, Michel
Yayımlandı Front Pediatr (2020)

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

Yazar: Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Yayımlandı Orphanet J Rare Dis (2016)

Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphob...

Yazar: Caye, Aurélie, Beldjord, Kheïra, Mass-Malo, Kelly, Drunat, Séverine, Soulier, Jean, Gandemer, Virginie, Baruchel, André, Bertrand, Yves, Cavé, Hélène, Clappier, Emmanuelle
Baskı/Yayın Bilgisi 2013

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

Yazar: Vial, Yoann, Lachenaud, Julie, Verloes, Alain, Besnard, Marianne, Fenneteau, Odile, Lainey, Elodie, Marceau-Renaut, Alice, Preudhomme, Claude, Baruchel, André, Cavé, Hélène, Drunat, Séverine
Yayımlandı Haematologica (2018)

Case Report: Targeting 2 Antigens as a Promising Strategy in Mixed Phenotype Acute Leukemia: Combination of Blinatumomab With Gemtuzumab Ozogamicin in an Infant With a KMT2A-Rearra...

Yazar: Brethon, Benoît, Lainey, Elodie, Caye-Eude, Aurélie, Grain, Audrey, Fenneteau, Odile, Yakouben, Karima, Roupret-Serzec, Julie, Le Mouel, Lou, Cavé, Hélène, Baruchel, André
Yayımlandı Front Oncol (2021)

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

Yazar: Gelb, Bruce D., Cavé, Hélène, Dillon, Mitchell W., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Williams, Bradley, Zenker, Martin, Vincent, Lisa M.
Yayımlandı Genet Med (2018)

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Yazar: Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin
Baskı/Yayın Bilgisi 2011

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Yazar: Grant, Andrew R., Cushman, Brandon J., Cavé, Hélène, Dillon, Mitchell W., Gelb, Bruce D., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Tartaglia, Marco, Vincent, Lisa M., Zenker, Martin
Yayımlandı Hum Mutat (2018)

Distinctive genotypes in infants with T‐cell acute lymphoblastic leukaemia

Yazar: Mansur, Marcela B., van Delft, Frederik W., Colman, Susan M., Furness, Caroline L., Gibson, Jane, Emerenciano, Mariana, Kempski, Helena, Clappier, Emmanuelle, Cave, Hélène, Soulier, Jean, Pombo‐de‐Oliveira, Maria S., Greaves, Mel, Ford, Anthony M.
Yayımlandı Br J Haematol (2015)

The long non-coding RNA landscape in juvenile myelomonocytic leukemia

Yazar: Hofmans, Mattias, Lammens, Tim, Helsmoortel, Hetty H., Bresolin, Silvia, Cavé, Hélène, Flotho, Christian, Hasle, Henrik, van den Heuvel-Eibrink, Marry M., Niemeyer, Charlotte, Stary, Jan, Van Roy, Nadine, Van Vlierberghe, Pieter, Philippé, Jan, De Moerloose, Barbara
Yayımlandı Haematologica (2018)

Cherubism as a systemic skeletal disease: evidence from an aggressive case

Yazar: 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
Yayımlandı BMC Musculoskelet Disord (2020)

CircRNAs Dysregulated in Juvenile Myelomonocytic Leukemia: CircMCTP1 Stands Out

Yazar: Dal Molin, Anna, Hofmans, Mattias, Gaffo, Enrico, Buratin, Alessia, Cavé, Hélène, Flotho, Christian, de Haas, Valerie, Niemeyer, Charlotte M., Stary, Jan, Van Vlierberghe, Pieter, Philippé, Jan, De Moerloose, Barbara, te Kronnie, Geertruij, Bresolin, Silvia, Lammens, Tim, Bortoluzzi, Stefania
Yayımlandı Front Cell Dev Biol (2021)

Dexamethasone (6 mg/m(2)/day) and prednisolone (60 mg/m(2)/day) were equally effective as induction therapy for childhood acute lymphoblastic leukemia in the EORTC CLG 58951 random...

Yazar: Domenech, Carine, Suciu, Stefan, De Moerloose, Barbara, Mazingue, Françoise, Plat, Geneviève, Ferster, Alina, Uyttebroeck, Anne, Sirvent, Nicolas, Lutz, Patrick, Yakouben, Karima, Munzer, Martine, Röhrlich, Pierre, Plantaz, Dominique, Millot, Frederic, Philippet, Pierre, Dastugue, Nicole, Girard, Sandrine, Cavé, Hélène, Benoit, Yves, Bertrandfor, Yves
Baskı/Yayın Bilgisi 2014

Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study

Yazar: Pui, Ching-Hon, Rebora, Paola, Schrappe, Martin, Attarbaschi, Andishe, Baruchel, Andre, Basso, Giuseppe, Cavé, Hélène, Elitzur, Sarah, Koh, Katsuyoshi, Liu, Hsi-Che, Paulsson, Kajsa, Pieters, Rob, Silverman, Lewis B., Stary, Jan, Vora, Ajay, Yeoh, Allen, Harrison, Christine J., Valsecchi, Maria Grazia
Yayımlandı J Clin Oncol (2019)

Long non-coding RNAs as novel therapeutic targets in juvenile myelomonocytic leukemia

Yazar: Hofmans, Mattias, Lammens, Tim, Depreter, Barbara, Wu, Ying, Erlacher, Miriam, Caye, Aurélie, Cavé, Hélène, Flotho, Christian, de Haas, Valerie, Niemeyer, Charlotte M., Stary, Jan, Van Nieuwerburgh, Filip, Deforce, Dieter, Van Loocke, Wouter, Van Vlierberghe, Pieter, Philippé, Jan, De Moerloose, Barbara
Yayımlandı Sci Rep (2021)

Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling

Yazar: Bourquin, Jean-Pierre, Subramanian, Aravind, Langebrake, Claudia, Reinhardt, Dirk, Bernard, Olivier, Ballerini, Paola, Baruchel, André, Cavé, Hélène, Dastugue, Nicole, Hasle, Henrik, Kaspers, Gertjan L., Lessard, Michel, Michaux, Lucienne, Vyas, Paresh, van Wering, Elisabeth, Zwaan, Christian M., Golub, Todd R., Orkin, Stuart H.
Baskı/Yayın Bilgisi 2006

Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yazar: Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Baskı/Yayın Bilgisi 2007