Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (20.09.2018)
Published in Blood (20.09.2018)
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Journal Article
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis
Belkaya, Serkan, PhD, Kontorovich, Amy R., MD, PhD, Byun, Minji, PhD, Mulero-Navarro, Sonia, PhD, Bajolle, Fanny, MD, PhD, Cobat, Aurelie, MD, PhD, Josowitz, Rebecca, MD, PhD, Itan, Yuval, PhD, Quint, Raphaelle, MSc, Lorenzo, Lazaro, MSc, Boucherit, Soraya, MD, Stoven, Cecile, MD, Di Filippo, Sylvie, MD, PhD, Abel, Laurent, MD, PhD, Zhang, Shen-Ying, MD, PhD, Bonnet, Damien, MD, PhD, Gelb, Bruce D., MD, Casanova, Jean-Laurent, MD, PhD
Published in Journal of the American College of Cardiology (04.04.2017)
Published in Journal of the American College of Cardiology (04.04.2017)
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Journal Article
Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry
Broccia, Mathilde Veneziano, Vergier, Julia, Benoit, Audrey, Huguenin, Yoann, Lambilliotte, Anne, Castex, Marie Pierre, Gourdon, Stephanie, Ithier, Ghislaine, Kebaili, Kamila, Rohrlich, Pierre, Pondarre, Corinne, Chamouine, Abdourahim, Simon, Pauline, Kpati, Kokou Placide Agbo, Allali, Slimane, Baron-Joly, Sandrine, Bayart, Sophie, Billaud, Nicolas, Brousse, Valentine, Dumesnil, Cecile, Garnier, Nathalie, Guichard, Isabelle, Joseph, Laure, Kamdem, Annie, Maitre, Julie, Mathey, Catherine, Paillard, Catherine, Phulpin, Aurelie, Renard, Cecile, Stoven, Cecile, Touati, Mohamed, Trochu, Capucine, Nafissi, Suzanne Mathieu, Badens, Catherine, Szepetowski, Sarah, Thuret, Isabelle
Published in Haematologica (Roma) (22.02.2024)
Published in Haematologica (Roma) (22.02.2024)
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P1451: PUBERTAL DEVELOPMENT OF TRANSFUSION DEPENDENT THALASSEMIA PATIENTS AT THE ERA OF ORAL CHELATION WITH DEFERASIROX: RESULTS OF THE FRENCH NATIONAL REGISTRY NATHALY
Veneziano, Mathilde, Benoit, Audrey, Huguenin, Yoann, Lambilliotte, Anne, Castex, Marie‐Pierre, Gourdon, Stephanie, Ithier, Ghislaine, Kebaili, Kamila, Rohrlich, Pierre‐Simon, Pondarre, Corinne, Chamouine, Abdourahim, Simon, Pauline, Agbo‐Kpati‐Kokou, Placide, Allali, Slimane, Baron‐Joly, Sandrine, Bayart, Sophie, Billaud, Nicolas, Brousse, Valentine, Dumesnil, Cecile, Garnier, Nathalie, Guichard, Isabelle, Joseph, Laure, Kamdem, Annie, Maitre, Julie, Mathey, Catherine, Paillard, Catherine, Phulpin, Aurélie, Renard, Cécile, Stoven, Cecile, Touati, Mohamed, Trochu, Capucine, Mathieu, Suzanne, Vergier, Julia, Badens, Catherine, Sarah, Szepetowski, Thuret, Isabelle
Published in HemaSphere (08.08.2023)
Published in HemaSphere (08.08.2023)
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Journal Article
Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): A multicentric French national observational cross‐sectional study based on the FranceCoag registry
Nguyen, Ngoc Anh Thu, Auquier, Pascal, Beltran Anzola, Any, Harroche, Annie, Castet, Sabine, Huguenin, Yoann, Meunier, Sandrine, Repesse, Yohann, D'Oiron, Roseline, Rauch, Antoine, Desprez, Dominique, Spiegel, Alexandra, Chamouni, Pierre, Schneider, Pascale, Baumstarck, Karine, Boucekine, Mohamed, Tabele, Clémence, Viprey, Marie, Leroy, Tanguy, Roques, Marie‐Anaïs, Sannie, Thomas, Giraud, Nicolas, Chambost, Hervé, Resseguier, Noémie, Apostolidis, Thémis, Ardillon, Laurent, Bayart, Sophie, Berger, Claire, Bertrand, Marie‐Anne, Biron‐Andreani, Christine, Borel‐Derlon, Annie, Calvez, Thierry, Celli, Amandine, Claeyssens Donadel, Ségolène, De Raucourt, Emmanuelle, Falaise, Céline, Fournel, Alexandra, Frotscher, Birgit, Gay, Valérie, Genre‐Volot, Fabienne, Goudemand, Jenny, Gruel, Yves, Guillet, Benoît, Hassoun, Abel, Hochart, Audrey, Lambert, Thierry, Lebreton, Aurélien, Lienhart, Anne, Marlu, Raphaël, Martin, Michèle, Milien, Vanessa, Monpoux, Fabrice, Morange, Pierre‐Emmanuel, Mourey, Guillaume, Negrier, Claude, Nguyen, Philippe, Nyombe, Placide, Oudot‐Challard, Caroline, Pan‐Petesch, Brigitte, Polack, Benoît, Rafowicz, Anne, Rivaud, Delphine, Rohrlich, Pierre‐Simon, Rosso‐Delsemme, Natacha, Rousseau, Florence, Stoven, Cecile, Susen, Sophie, Tardy, Brigitte, Trossaërt, Marc, Valentin, Jean‐Baptiste, Vanderbecken, Stéphane, Voltzenlogel, Romain, Voyer‐Ebrard, Annelise, Wibaut, Bénédicte
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2023)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.09.2023)
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Journal Article
Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): study protocol for a multicentric French national observational cross-sectional study
Resseguier, Noémie, Rosso-Delsemme, Natacha, Beltran Anzola, Any, Baumstarck, Karine, Milien, Vanessa, Ardillon, Laurent, Bayart, Sophie, Berger, Claire, Bertrand, Marie-Anne, Biron-Andreani, Christine, Borel-Derlon, Annie, Castet, Sabine, Chamouni, Pierre, Claeyssens Donadel, Ségolène, De Raucourt, Emmanuelle, Desprez, Dominique, Falaise, Céline, Frotscher, Birgit, Gay, Valérie, Goudemand, Jenny, Gruel, Yves, Guillet, Benoît, Harroche, Annie, Hassoun, Abel, Huguenin, Yoann, Lambert, Thierry, Lebreton, Aurélien, Lienhart, Anne, Martin, Michèle, Meunier, Sandrine, Monpoux, Fabrice, Mourey, Guillaume, Negrier, Claude, Nguyen, Philippe, Nyombe, Placide, Oudot, Caroline, Pan-Petesch, Brigitte, Polack, Benoît, Rafowicz, Anne, Rauch, Antoine, Rivaud, Delphine, Schneider, Pascale, Spiegel, Alexandra, Stoven, Cecile, Tardy, Brigitte, Trossaërt, Marc, Valentin, Jean-Baptiste, Vanderbecken, Stéphane, Volot, Fabienne, Voyer-Ebrard, Annelise, Wibaut, Bénédicte, Leroy, Tanguy, Sannie, Thomas, Chambost, Hervé, Auquier, Pascal
Published in BMJ open (25.07.2018)
Published in BMJ open (25.07.2018)
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Journal Article
Abstract 18289: Acute Myocarditis as a Presentation of Autosomal Recessive Cardiomyopathy
Belkaya, Serkan, Kontorovich, Amy, Byun, Minji, Bajolle, Fanny, Mulero-Navarro, Sonia, Josowitz, Rebecca, Itan, Yuval, Cobat, Aurelie, Lorenzo, Lazaro, Boucherit, Soraya, Stoven, Cecile, Di Filippo, Sylvie, Abel, Laurent, Zhang, Shen-Ying, Bonnet, Damien, Gelb, Bruce D, Casanova, Jean-Laurent
Published in Circulation (New York, N.Y.) (11.11.2016)
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Published in Circulation (New York, N.Y.) (11.11.2016)
Journal Article
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (20.09.2018)
Published in Blood (20.09.2018)
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Journal Article
Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome
Bellanné-Chantelot, Christine, Marty, Caroline, Schmaltz-Panneau, Barbara, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debre, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frederic, Bensaid, Philippe, Boesflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Francoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachee, Marie, Pasquet, Marlène, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (08.12.2017)
Published in Blood (08.12.2017)
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Journal Article