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Annachiara De Sandre-Giovannoli

institut national de la santé et de la recherche médicale (inserm)
H指数:32
被引数:5,412

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-01-1223
OAAI
Balasubramanian, Meena; Dingemans, Alexander J. M.; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M.; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H.; Burke, Katherine B.; Fry, Andrew E.; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S.; Vincent, Marie; Isidor, Bertrand; Kury, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K.; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M.; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (vol
NATURE COMMUNICATIONS
IF15.7
2020-10-190
OAAI
Elouej, Sahar; Harhouri, Karim; Le Mao, Morgane; Baujat, Genevieve; Nampoothiri, Sheela; Kayserili, Holya; Al Menabawy, Nihal; Selim, Laila; Paneque, Arianne Llamos; Kubisch, Christian; Lessel, Davor; Rubinsztajn, Robert; Charar, Chayki; Bartoli, Catherine; Airault, Coraline; Deleuze, Jean-Francois; Rotig, Agnes; Bauer, Peter; Pereira, Catarina; Loh, Abigail; Escande-Beillard, Nathalie; Muchir, Antoine; Martino, Lisa; Gruenbaum, Yosef; Lee, Song-Hua; Manivet, Philippe; Lenaers, Guy; Reversade, Bruno; Levy, Nicolas; De Sandre-Giovannoli, Annachiara
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
NATURE COMMUNICATIONS
IF15.7
2020-09-1138
OAAI
Elouej, Sahar; Harhouri, Karim; Le Mao, Morgane; Baujat, Genevieve; Nampoothiri, Sheela; Kayserili, Holya; Al Menabawy, Nihal; Selim, Laila; Paneque, Arianne Llamos; Kubisch, Christian; Lessel, Davor; Rubinsztajn, Robert; Charar, Chayki; Bartoli, Catherine; Airault, Coraline; Deleuze, Jean-Francois; Rotig, Agnes; Bauer, Peter; Pereira, Catarina; Loh, Abigail; Escande-Beillard, Nathalie; Muchir, Antoine; Martino, Lisa; Gruenbaum, Yosef; Lee, Song-Hua; Manivet, Philippe; Lenaers, Guy; Reversade, Bruno; Levy, Nicolas; De Sandre-Giovannoli, Annachiara
Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13
NATURE COMMUNICATIONS
IF15.7
2020-08-1719
OAAI
Pitrez, Patricia R.; Estronca, Luis; Monteiro, Luis Miguel; Colell, Guillem; Vazao, Helena; Santinha, Deolinda; Harhouri, Karim; Thornton, Daniel; Navarro, Claire; Egesipe, Anne-Laure; Carvalho, Tania; Dos Santos, Rodrigo L.; Levy, Nicolas; Smith, James C.; de Magalhaes, Joao Pedro; Ori, Alessandro; Bernardo, Andreia; De Sandre-Giovannoli, Annachiara; Nissan, Xavier; Rosell, Anna; Ferreira, Lino
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2019-12-116
OAAI
Grelet, Maude; Blanck, Veronique; Sigaudy, Sabine; Philip, Nicole; Giuliano, Fabienne; Khachnaoui, Khaoula; Morel, Godelieve; Grotto, Sarah; Sophie, Julia; Poirsier, Celine; Lespinasse, James; Alric, Laurent; Calvas, Patrick; Chalhoub, Gihane; Layet, Valerie; Molin, Arnaud; Colson, Cindy; Marsili, Luisa; Edery, Patrick; Levy, Nicolas; De Sandre-Giovannoli, Annachiara
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
CIRCULATION
IF38.6
2019-07-23143
OAAI
Wahbi, Karim; Ben Yaou, Rabah; Gandjbakhch, Estelle; Anselme, Frederic; Gossios, Thomas; Lakdawala, Neal K.; Stalens, Caroline; Sacher, Frederic; Babuty, Dominique; Trochu, Jean-Noel; Moubarak, Ghassan; Savvatis, Kostantinos; Porcher, Raphael; Laforet, Pascal; Fayssoil, Abdallah; Marijon, Eloi; Stojkovic, Tanya; Behin, Anthony; Leonard-Louis, Sarah; Sole, Guilhem; Labombarda, Fabien; Richard, Pascale; Metay, Corinne; Quijano-Roy, Susana; Dabaj, Ivana; Klug, Didier; Vantyghem, Marie-Christine; Chevalier, Philippe; Ambrosi, Pierre; Salort, Emmanuelle; Sadoul, Nicolas; Waintraub, Xavier; Chikhaoui, Khadija; Mabo, Philippe; Combes, Nicolas; Maury, Philippe; Sellal, Jean-Marc; Tedrow, Usha B.; Kalman, Jonathan M.; Vohra, Jitendra; Androulakis, Alexander F. A.; Zeppenfeld, Katja; Thompson, Tina; Barnerias, Christine; Becane, Henri-Marc; Bieth, Eric; Boccara, Franck; Bonnet, Damien; Bouhour, Francoise; Boule, Stephane; Brehin, Anne-Claire; Chapon, Francoise; Cintas, Pascal; Cuisset, Jean-Marie; Davy, Jean-Marc; De Sandre-Giovannoli, Annachiara; Demurger, Florence; Desguerre, Isabelle; Dieterich, Klaus; Durigneux, Julien; Echaniz-Laguna, Andoni; Eschalier, Romain; Ferreiro, Ana; Ferrer, Xavier; Francannet, Christine; Fradin, Melanie; Gaborit, Benedicte; Gay, Arnaud; Hagege, Albert; Isapof, Arnaud; Jeru, Isabelle; Morales, Raul Juntas; Lagrue, Emmanuelle; Lamblin, Nicolas; Lascols, Olivier; Laugel, Vincent; Lazarus, Arnaud; Leturcq, France; Levy, Nicolas; Magot, Armelle; Manel, Veronique; Martins, Raphael; Mayer, Michele; Mercier, Sandra; Meune, Christophe; Michaud, Maud; Minot-Myhie, Marie-Christine; Muchir, Antoine; Nadaj-Pakleza, Aleksandra; Pereon, Yann; Petiot, Philippe; Petit, Florence; Praline, Julien; Rollin, Anne; Sabouraud, Pascal; Sarret, Catherine; Schaeffer, Stephane; Taithe, Frederic; Tard, Celine; Tiffreau, Vincent; Toutain, Annick; Vatier, Camille; Walther-Louvier, Ulrike; Eymard, Bruno; Charron, Philippe; Vigouroux, Corinne; Bonne, Gisele; Kumar, Saurabh; Elliott, Perry; Duboc, Denis
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
JOURNAL OF MEDICAL GENETICS
IF3.7
2016-06-2212
PREAI
Soria-Valles, Clara; Carrero, Dido; Gabau, Elisabeth; Velasco, Gloria; Quesada, Victor; Barcena, Clea; Moens, Marleen; Fieggen, Karen; Mohrcken, Silvia; Owens, Martina; Puente, Diana A.; Asensio, Oscar; Loeys, Bart; Perez, Ana; Benoit, Valerie; Wuyts, Wim; Levy, Nicolas; Hennekam, Raoul C.; De Sandre-Giovannoli, Annachiara; Lopez-Otin, Carlos

研究方向

暂未获取到该数据
N
Nicolas Lévy
H 指数:71论文数:560被引数:1.9万
C
Claire Navarro
H 指数:26论文数:53被引数:5,074
P
Pierre Cau
H 指数:24论文数:61被引数:4,527
X
Xavier Nissan
H 指数:19论文数:75被引数:1,636
K
Karim Harhouri
H 指数:16论文数:28被引数:1,119
P
Patrice Roll
H 指数:23论文数:95被引数:2,017
C
Catherine Bartoli
H 指数:20论文数:68被引数:1,803
L
Lino Ferreira
H 指数:60论文数:242被引数:1.4万
H 指数:0论文数:28被引数:0
C
Carlos López-Otı́n
H 指数:147论文数:692被引数:13.2万