Inherited biallelic CSF3R mutations in severe congenital neutropenia
Triot, Alexa, Järvinen, Päivi M, Arostegui, Juan I, Murugan, Dhaarini, Kohistani, Naschla, Dapena Díaz, José Luis, Racek, Tomas, Puchałka, Jacek, Gertz, E Michael, Schäffer, Alejandro A, Kotlarz, Daniel, Pfeifer, Dietmar, Díaz de Heredia Rubio, Cristina, Ozdemir, Mehmet Akif, Patiroglu, Turkan, Karakukcu, Musa, Sánchez de Toledo Codina, José, Yagüe, Jordi, Touw, Ivo P, Unal, Ekrem, Klein, Christoph
Published in Blood (12.06.2014)
Published in Blood (12.06.2014)
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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Rossignol, Francis, Duarte Moreno, Marvid S., Benoist, Jean-François, Boehm, Manfred, Bourrat, Emmanuelle, Cano, Aline, Chabrol, Brigitte, Cosson, Claudine, Díaz, José Luís Dapena, D’Harlingue, Arthur, Dimmock, David, Freeman, Alexandra F., García, María Tallón, Garganta, Cheryl, Goerge, Tobias, Halbach, Sara S., de Laffolie, Jan, Lam, Christina T., Martin, Ludovic, Martins, Esmeralda, Meinhardt, Andrea, Melki, Isabelle, Ombrello, Amanda K., Pérez, Noémie, Quelhas, Dulce, Scott, Anna, Slavotinek, Anne M., Soares, Ana Rita, Stein, Sarah L., Süßmuth, Kira, Thies, Jenny, Ferreira, Carlos R., Schiff, Manuel
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Lack of prolidase causes a bone phenotype both in human and in mouse
Besio, Roberta, Maruelli, Silvia, Gioia, Roberta, Villa, Isabella, Grabowski, Peter, Gallagher, Orla, Bishop, Nicholas J, Foster, Sarah, De Lorenzi, Ersilia, Colombo, Raffaella, Diaz, Josè Luis Dapena, Moore-Barton, Haether, Deshpande, Charu, Aydin, Halil Ibrahim, Tokatli, Aysegul, Kwiek, Bartlomiej, Kasapkara, Cigdem Seher, Adisen, Esra Ozsoy, Gurer, Mehmet Ali, Di Rocco, Maja, Phang, James M, Gunn, Teresa M, Tenni, Ruggero, Rossi, Antonio, Forlino, Antonella
Published in Bone (New York, N.Y.) (01.03.2015)
Published in Bone (New York, N.Y.) (01.03.2015)
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Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis
Locatelli, Franco, Jordan, Michael B, Allen, Carl, Cesaro, Simone, Rizzari, Carmelo, Rao, Anupama, Degar, Barbara, Garrington, Timothy P, Sevilla, Julian, Putti, Maria-Caterina, Fagioli, Franca, Ahlmann, Martina, Dapena Diaz, Jose-Luis, Henry, Michael, De Benedetti, Fabrizio, Grom, Alexei, Lapeyre, Genevieve, Jacqmin, Philippe, Ballabio, Maria, de Min, Cristina
Published in The New England journal of medicine (07.05.2020)
Published in The New England journal of medicine (07.05.2020)
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Journal Article
Inherited biallelic CSF3Rmutations in severe congenital neutropenia
Triot, Alexa, Järvinen, Päivi M., Arostegui, Juan I., Murugan, Dhaarini, Kohistani, Naschla, Dapena Díaz, José Luis, Racek, Tomas, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Kotlarz, Daniel, Pfeifer, Dietmar, Díaz de Heredia Rubio, Cristina, Ozdemir, Mehmet Akif, Patiroglu, Turkan, Karakukcu, Musa, Sánchez de Toledo Codina, José, Yagüe, Jordi, Touw, Ivo P., Unal, Ekrem, Klein, Christoph
Published in Blood (12.06.2014)
Published in Blood (12.06.2014)
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Journal Article
Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF
Triot, Alexa, Järvinen, Päivi M, Arostegui, Juan I., Racek, Tomas, Puchalka, Jacek, Díaz, Jose Luis Dapena, Kohistani, Naschla, Gertz, E. Michael, Schäffer, Alejandro A., de Heredia Rubio, Cristina Díaz, Ozdemir, Mehmet A., Patiroglu, Turkan, Karakukcu, Musa, de Toledo Codina, José Sanchez, Yagüe, Jordi, Unal, Ekrem, Klein, Christoph
Published in Blood (15.11.2013)
Published in Blood (15.11.2013)
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Safety of Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis: Results of the Primary Analysis of the Pivotal Phase 2/3 Study
Locatelli, Franco, Jordan, Michael B., Allen, Carl, Cesaro, Simone, Rizzari, Carmelo, Rao, Anupama, Degar, Barbara, Garrington, Tim, Sevilla, Julian, Putti, Maria Caterina, Fagioli, Franca, Ahlmann, Martina, Dapena Diaz, Jose-Luis, Henry, Michael, De Benedetti, Fabrizio, Grom, Alexei, de Min, Cristina
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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Journal Article
Sensitivity Analysis of Overall Response Rate (ORR) with Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis (HLH)
Locatelli, Franco, Jordan, Michael B., Allen, Carl, Cesaro, Simone, Rizzari, Carmelo, Rao, Anupama, Degar, Barbara, Garrington, Tim, Sevilla, Julian, Putti, Maria Caterina, Fagioli, Franca, Ahlmann, Martina, Dapena Diaz, Jose-Luis, Henry, Michael, De Benedetti, Fabrizio, Grom, Alexei, Stoltenberg, Anna, Vågerö, Mårten, de Min, Cristina
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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