Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis by Lunati‐Rozie, Ariane, Janin, Alexandre, Faubert, Emmanuelle, Nony, Severine, Renoux, Céline, Carcao, Manuel D., Fanen, Pascale, Funalot, Benoît, Mansour‐Hendili, Lamisse, Joly, Philippe

Get full text

Characterization of Recessive Parkinson Disease in a Large Multicenter Study by Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohamed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean‐Christophe, Brice, Alexis, Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Ben Romdhan, Sawssan, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Le Toullec, Benjamin, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Ben Djebara, Mouna, Gouider, Riadh, Tazir, Meriem, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andy, Corvol, Jean‐Christophe, Brice, Alexis

Get full text

Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients by Mansour‐Hendili, Lamisse, Flamarion, Edouard, Michel, Marc, Morbieu, Caroline, Gameiro, Christine, Sloma, Ivan, Badaoui, Bouchra, Darnige, Luc, Camard, Marion, Lunati‐Rozie, Ariane, Aissat, Abdelrazak, Tarfi, Sihem, Friedrich, Chloé, Picard, Véronique, Garçon, Loïc, Abermil, Nasséra, Kaltenbach, Sophie, Radford‐Weiss, Isabelle, Kosmider, Olivier, Fanen, Pascale, Bartolucci, Pablo, Godeau, Bertrand, Galactéros, Frédéric, Funalot, Benoît

Get full text

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics by Pacot, Laurence, Vidaud, Dominique, Ye, Manuela, Chansavang, Albain, Coustier, Audrey, Maillard, Theodora, Barbance, Cécile, Laurendeau, Ingrid, Hébrard, Bérénice, Lunati-Rozie, Ariane, Funalot, Benoît, Wolkenstein, Pierre, Vidaud, Michel, Goldenberg, Alice, Morice-Picard, Fanny, Hadjadj, Djihad, Parfait, Béatrice, Pasmant, Eric

Get full text

Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditar... by Albenque, Grégoire, Bézard, Mélanie, Kharoubi, Mounira, Odouard, Shirley, Lunati, Ariane, Poullot, Elsa, Zaroui, Amira, Teiger, Emmanuel, Hittinger, Luc, Audard, Vincent, El Karoui, Khalil, Funalot, Benoît, Fanen, Pascale, Damy, Thibaud, Oghina, Silvia

Get full text

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis by Lunati, Ariane, Petit, Arnaud, Lapillonne, Hélène, Gameiro, Christine, Saillour, Virginie, Garel, Catherine, Doummar, Diane, Qebibo, Leila, Aissat, Abdelrazak, Fanen, Pascale, Bartolucci, Pablo, Galactéros, Fréderic, Funalot, Benoit, Burglen, Lydie, Mansour‐Hendili, Lamisse

Get full text

Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation by Mansour‐Hendili, Lamisse, Egée, Stéphane, Monedero‐Alonso, David, Bouyer, Guillaume, Godeau, Bertrand, Badaoui, Bouchra, Lunati, Ariane, Noizat, Clara, Aissat, Abdelrazak, Kiger, Laurent, Mekki, Chadia, Picard, Véronique, Moutereau, Stéphane, Fanen, Pascale, Bartolucci, Pablo, Garçon, Loïc, Galactéros, Frédéric, Funalot, Benoît

Get full text

Characterization of recessive Parkinson's disease in a large multicenter study by Lesage, Suzanne, Lunati, Ariane, Houot, Marion, Romdhan, Sawssan Ben, Clot, Fabienne, Tesson, Christelle, Mangone, Graziella, Toullec, Benjamin Le, Courtin, Thomas, Larcher, Kathy, Benmahdjoub, Mustapha, Arezki, Mohammed, Bouhouche, Ahmed, Anheim, Mathieu, Roze, Emmanuel, Viallet, François, Tison, François, Broussolle, Emmanuel, Emre, Murat, Hanagasi, Hasmet, Bilgic, Basar, Tazir, Meriem, Djebara, Mouna Ben, Gouider, Riadh, Tranchant, Christine, Vidailhet, Marie, Le Guern, Eric, Corti, Olga, Mhiri, Chokri, Lohmann, Ebba, Singleton, Andrew, Corvol, Jean-Christophe, Brice, Alexis

Get full text

Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation by Mansour-Hendili, Lamisse, Egée, Stéphane, Monedero-Alonso, David, Bouyer, Guillaume, Godeau, Bertrand, Badaoui, Bouchra, Lunati, Ariane, Noizat, Clara, Aissat, Abdelrazak, Kiger, Laurent, Mekki, Chadia, Picard, Véronique, Moutereau, Stéphane, Fanen, Pascale, Bartolucci, Pablo, Garçon, Loïc, Galactéros, Frédéric, Funalot, Benoît

Get full text

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis by Lunati, Ariane, Petit, Arnaud, Lapillonne, Hélène, Gameiro, Christine, Saillour, Virginie, Garel, Catherine, Doummar, Diane, Qebibo, Leila, Aissat, Abdelrazak, Fanen, Pascale, Bartolucci, Pablo, Galactéros, Fréderic, Funalot, Benoit, Burglen, Lydie, Mansour-Hendili, Lamisse

Get full text

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis by Lunati-Rozie, Ariane, Janin, Alexandre, Faubert, Emmanuelle, Nony, Severine, Renoux, Céline, Carcao, Manuel D, Fanen, Pascale, Funalot, Benoît, Mansour-Hendili, Lamisse, Joly, Philippe

Get full text