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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Author / Creator:Pinard, Amélie ; Guey, Stéphanie ; Guo, Dongchuan ; Cecchi, Alana C. ; Kharas, Natasha ; Wallace, Stephanie ; Regalado, Ellen S. ; Hostetler, Ellen M. ; Sharrief, Anjail Z. ; Bergametti, Françoise ; Kossorotoff, Manoelle ; Hervé, Dominique ; Kraemer, Markus ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Smith, Edward R. ; Tournier-Lasserve, Elisabeth ; Milewicz, Dianna M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-02, Vol.22 (2), p.427-431
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Fatal encephalitis caused by Newcastle disease virus in a child
Author / Creator:Winter, Sarah ; Lechapt, Emmanuèle ; Gricourt, Guillaume ; N‘debi, Melissa ; Boddaert, Nathalie ; Moshous, Despina ; Blauwblomme, Thomas ; Kossorotoff, Manoelle ; Fouyssac, Fanny ; Chareyre, Judith ; Demontant, Vanessa ; Chretien, Fabrice ; Woerther, Paul-Louis ; Pawlotsky, Jean-Michel ; Blanche, Stéphane ; Neven, Bénédicte ; Rodriguez, Christophe
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2021-09, Vol.142 (3), p.605-608
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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Author / Creator:Brassier, Anais ; Gobin, Stephanie ; Arnoux, Jean Baptiste ; Valayannopoulos, Vassili ; Habarou, Florence ; Kossorotoff, Manoelle ; Servais, Aude ; Barbier, Valerie ; Dubois, Sandrine ; Touati, Guy ; Barouki, Robert ; Lesage, Fabrice ; Dupic, Laurent ; Bonnefont, Jean Paul ; Ottolenghi, Chris ; De Lonlay, Pascale
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.58-58, Article 58
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Mechanical Thrombectomy for Pediatric Large Vessel Occlusions
Author / Creator:Bilgin, Cem ; Ibrahim, Mohamed ; Azzam, Ahmed Y ; Ghozy, Sherief ; Elswedy, Adam ; Kobeissi, Hassan ; Sobhi Jabal, Mohamed
Publisher:Heidelberg: Springer
Journal title:Clinical neuroradiology (Munich), 2023-09, Vol.33 (3), p.635-644
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A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti
Author / Creator:Atallah, Veronique ; Meot, Mathilde ; Kossorotoff, Manoelle ; Galmiche-Rolland, Louise ; Lardeux, Claude ; Neven, Benedicte ; Bodemer, Christine ; Bonnet, Damien
Publisher:London, England: SAGE Publications
Journal title:Pulmonary circulation, 2018-10, Vol.8 (4), p.1-3
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Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
Author / Creator:Guey, Stéphanie ; Kraemer, Markus ; Hervé, Dominique ; Ludwig, Thomas ; Kossorotoff, Manoëlle ; Bergametti, Françoise ; Schwitalla, Jan Claudius ; Choi, Simone ; Broseus, Lucile ; Callebaut, Isabelle ; Genin, Emmanuelle ; Tournier-Lasserve, Elisabeth
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.995-1003
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Moyamoya disease and syndromes: from genetics to clinical management
Author / Creator:Kossorotoff, Manoëlle ; Tournier-Lasserve, Elisabeth ; Herve, Dominique ; Guey, Stephanie
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2015-01, Vol.8 (default), p.49-68
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Association of Cerebral Oxymetry with Short-Term Outcome in Critically ill Children Undergoing Extracorporeal Membrane Oxygenation
Author / Creator:Vedrenne-Cloquet, Meryl ; Lévy, Raphaël ; Chareyre, Judith ; Kossorotoff, Manoëlle ; Oualha, Mehdi ; Renolleau, Sylvain ; Grimaud, Marion
Publisher:New York: Springer US
Journal title:Neurocritical care, 2021-10, Vol.35 (2), p.409-417
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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Author / Creator:Whalen, Sandra ; Shaw, Marie ; Mignot, Cyril ; Héron, Delphine ; Bastaraud, Sandra Chantot ; Walti, Cecile Cieuta ; Liebelt, Jan ; Elmslie, Frances ; Yap, Patrick ; Hurst, Jane ; Forsythe, Elisabeth ; Kirmse, Brian ; Ozmore, Jillian ; Spinelli, Alessandro Mauro ; Calabrese, Olga ; de Villemeur, Thierry Billette ; Tabet, Anne Claude ; Levy, Jonathan ; Guet, Agnes ; Kossorotoff, Manoëlle ; Kamien, Benjamin ; Morton, Jenny ; McCabe, Anne ; Brischoux-Boucher, Elise ; Raas-Rothschild, Annick ; Pini, Antonella ; Carroll, Renée ; Hartley, Jessica N. ; Boycott, Kym ; Brudno, Michael ; Bernier, Francois ; van Karnebeek, Clara ; Dyment, David ; Kernohan, Kristin ; Innes, Micheil ; Lamont, Ryan ; Parboosingh, Jillian ; Marshall, Deborah ; Marshall, Christian ; Mendoza, Roberto ; Dowling, James ; Hayeems, Robin ; Knoppers, Bartha ; Lehman, Anna ; Mostafavi, Sara ; Frosk, Patrick ; Slavotinek, Anne ; Truxal, Kristen ; Jennifer, Carroll ; Dheedene, Annelies ; Cui, Hong ; Kumar, Vishal ; Thomson, Glen ; Riccardi, Florence ; Gecz, Jozef ; Villard, Laurent
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417
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Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
Author / Creator:Guey, Stéphanie ; Hervé, Dominique ; Kossorotoff, Manoëlle ; Ha, Guillaume ; Aloui, Chaker ; Bergametti, Françoise ; Arnould, Minh ; Guenou, Hind ; Hadjadj, Jessica ; Dubois Teklali, Fanny ; Riant, Florence ; Balligand, Jean-Luc ; Uzan, Georges ; Villoutreix, Bruno O. ; Tournier-Lasserve, Elisabeth
Publisher:England: BioMed Central
Journal title:Human genomics, 2023-03, Vol.17 (1), p.24-24, Article 24
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Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study
Author / Creator:Goetz, Violette ; Yang, David-Dawei ; Abid, Hanene ; Roux, Charles-Joris ; Levy, Raphael ; Kossorotoff, Manoelle ; Desguerre, Isabelle ; Angoulvant, François ; Aubart, Mélodie
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2023-06, Vol.182 (6), p.2615-2624
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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
Author / Creator:Jaglin, Xavier Hubert ; Poirier, Karine ; Saillour, Yoann ; Buhler, Emmanuelle ; Tian, Guoling ; Bahi-Buisson, Nadia ; Fallet-Bianco, Catherine ; Phan-Dinh-Tuy, Françoise ; Kong, Xiang Peng ; Bomont, Pascale ; Castelnau-Ptakhine, Laëtitia ; Odent, Sylvie ; Loget, Philippe ; Kossorotoff, Manoelle ; Snoeck, Irina ; Plessis, Ghislaine ; Parent, Philippe ; Beldjord, Cherif ; Cardoso, Carlos ; Represa, Alfonso ; Flint, Jonathan ; Keays, David Anthony ; Cowan, Nicholas Justin ; Chelly, Jamel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-06, Vol.41 (6), p.746-752
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Long-term Outcome After Multiple Burr Hole Surgery in Children With Moyamoya Angiopathy: A Single-Center Experience in 108 Hemispheres
Author / Creator:Blauwblomme, Thomas ; Mathon, Bertrand ; Naggara, Olivier ; Kossorotoff, Manoelle ; Bourgeois, Marie ; Puget, Stéphanie ; Meyer, Philippe ; Brousse, Valentine ; de Montalembert, Marianne ; Brunelle, Francis ; Zerah, Michel ; Sainte-Rose, Christian
Publisher:United States: Oxford University Press
Journal title:Neurosurgery, 2017-06, Vol.80 (6), p.950-956
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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
Author / Creator:Guey, Stéphanie ; Grangeon, Lou ; Brunelle, Francis ; Bergametti, Françoise ; Amiel, Jeanne ; Lyonnet, Stanislas ; Delaforge, Audrey ; Arnould, Minh ; Desnous, Béatrice ; Bellesme, Céline ; Hervé, Dominique ; Schwitalla, Jan C ; Kraemer, Markus ; Tournier-Lasserve, Elisabeth ; Kossorotoff, Manoelle
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-08, Vol.54 (8), p.550-557
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Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Author / Creator:Aloui, Chaker ; Guey, Stéphanie ; Pipiras, Eva ; Kossorotoff, Manoelle ; Guéden, Sophie ; Corpechot, Michaelle ; Bessou, Pierre ; Pedespan, Jean-Michel ; Husson, Marie ; Hervé, Dominique ; Riant, Florence ; Kraemer, Markus ; Steffann, Julie ; Quenez, Olivier ; Tournier-Lasserve, Elisabeth
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-05, Vol.57 (5), p.339-346
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Pediatric brain arteriovenous malformation recurrence: a cohort study, systematic review and meta-analysis
Author / Creator:Hak, Jean-Francois ; Boulouis, Gregoire ; Kerleroux, Basile ; Benichi, Sandro ; Stricker, Sarah ; Gariel, Florent ; Garzelli, Lorenzo ; Meyer, Philippe ; Kossorotoff, Manoelle ; Boddaert, Nathalie ; Vidal, Vincent ; Girard, Nadine ; Dangouloff-Ros, Volodia ; Brunelle, Francis ; Fullerton, Heather ; Hetts, Steven W ; Blauwblomme, Thomas ; Naggara, Olivier
Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
Journal title:Journal of neurointerventional surgery, 2022-06, Vol.14 (6), p.611-617
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Mechanical Thrombectomy for Pediatric Large Vessel Occlusions: A Systematic Review and Meta-analysis
Author / Creator:Bilgin, Cem ; Ibrahim, Mohamed ; Azzam, Ahmed Y. ; Ghozy, Sherief ; Elswedy, Adam ; Kobeissi, Hassan ; Sobhi Jabal, Mohamed ; Kadirvel, Ramanathan ; Boulouis, Grégoire ; Naggara, Olivier ; Fiehler, Jens ; Psychogios, Marios ; Lee, Sarah ; Wildgruber, Moritz ; Kemmling, André ; Al-Mufti, Fawaz ; Kossorotoff, Manoelle ; Sporns, Peter B. ; Kallmes, David F.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Clinical neuroradiology (Munich), 2023-09, Vol.33 (3), p.635-644
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First Line Onyx Embolization in Ruptured Pediatric Arteriovenous Malformations: Safety and Efficacy
Author / Creator:Alias, Quentin ; Boulouis, Grégoire ; Blauwblomme, Thomas ; Benichi, Sandro ; Beccaria, Kevin ; Gariel, Florent ; Garzelli, Lorenzo ; Meyer, Philippe ; Kossorotoff, Manoelle ; Boddaert, Nathalie ; Brunelle, Francis ; Naggara, Olivier
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Clinical neuroradiology (Munich), 2021-03, Vol.31 (1), p.155-163
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Recanalization Treatments for Pediatric Acute Ischemic Stroke in France
Author / Creator:Kossorotoff, Manoëlle ; Kerleroux, Basile ; Boulouis, Grégoire ; Husson, Béatrice ; Tran Dong, Kim ; Eugene, François ; Damaj, Lena ; Ozanne, Augustin ; Bellesme, Céline ; Rolland, Anne ; Bourcier, Romain ; Triquenot-Bagan, Aude ; Marnat, Gaultier ; Neau, Jean-Philippe ; Joriot, Sylvie ; Perez, Alexandra ; Guillen, Maud ; Perivier, Maximilien ; Audic, Frederique ; Hak, Jean François ; Denier, Christian ; Naggara, Olivier ; BEN HASSEN, WAGIH ; KOSSOROTOFF, MANOËLLE ; NAGGARA, OLIVIER ; KERLEROUX, BASILE ; DENIER, CHRISTIAN ; OZANNE, AUGUSTIN ; BELLESME, CÉLINE ; HUSSON, BÉATRICE ; HUGUES, CHABRIAT ; PEGGY, REINER ; LAMY, CATHERINE ; CLARENÇON, FREDERIC ; DELTOUR, SANDRINE ; LEVASSEUR, MICHÈLE ; LUN, FRANÇOIS ; HOSSEINI, HASSAN ; VILLAIN, ADRIEN ; LAMY, CHANTAL ; HERY, LOÏC ; CHIVOT, CYRIL ; GUEDEN, SOPHIE ; BOUAMRA, BENJAMIN ; BELLEVILLE GOFFENEY, JOANNA ; BIONDI, ALESSANDRA ; RENOU, PAULINE ; THIBAUD, MARIE ; MARNAT, GAULTIER ; BACH, NATHALIE ; FERRIER, ANNA ; REMERAND, GANAELLE ; CHABERT, EMMANUEL ; BÉJOT, YANNICK ; DETANTE, OLIVIER ; LAMETERY, ELODIE ; TAHON, FLORENCE ; CORDONNIER, CHARLOTTE ; SYLVIE, JORIOT ; APOLLINE, KAZEMI ; LAROCHE, CECILE ; SALEME, SUZANA ; DEREX, LAURENT ; CARNEIRO, MARYLINE ; EKER, OMER ; AUDIC, FREDERIQUE ; DORY LAUTREC, PHILIPPE ; GIRARD, NADINE ; ARQUIZAN, CAROLINE ; MEYER, PIERRE ; RICHARD, SEBASTIEN ; BILBAULT, CLAIRE ; DESAL, HUBERT ; ROLLAND, ANNE ; ROMAIN, BOURCIER ; GONDON, EMMANUELLE ; SEDAT, JACQUES ; AUZOU, PASCAL ; OZSANCAK, CANAN ; CAMI, GUILLAUME ; NEAU, JEAN PHILIPPE ; RAYNAUD, NICOLAS ; VELASCO, STÉPHANE ; VANNIER, STEPHANE ; DAMAJ, LÉNA ; FERRÉ, JEAN CHRISOPHE ; EUGENE, FRANCOIS ; TRIQUENOT BAGAN, AUDE ; PAPAGIANNAKI, CHRISANTHI ; WOLFF, VALÉRIE ; PEREZ, ALEXANDRA ; BEAUJEUX, RÉMY ; CHEURET, EMMANUEL ; DARCOURT, JEAN ; JANOT, KEVIN ; PERIVIER, MAXIMILIEN ; HERBRETEAUX, DENIS
Publisher:Chicago: American Medical Association
Journal title:JAMA network open, 2022-09, Vol.5 (9), p.e2231343-e2231343
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CD34+ Hematopoietic Stem Cell Count Is Predictive of Vascular Event Occurrence in Children with Sickle Cell Disease
Author / Creator:Kossorotoff, Manoelle ; De Montalembert, Mariane ; Brousse, Valentine ; Lasne, Dominique ; Curis, Emmanuel ; Smadja, David M. ; Lacroix, Romaric ; Bertil, Sebastien ; Masson, Elodie ; Desguerre, Isabelle ; Bonnet, Damien ; Gaussem, Pascale
Publisher:New York: Springer US
Journal title:Stem cell reviews, 2018-10, Vol.14 (5), p.694-701
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Showing 1 to 20 of 33 results

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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

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Fatal encephalitis caused by Newcastle disease virus in a child

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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

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Mechanical Thrombectomy for Pediatric Large Vessel Occlusions

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A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti

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Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

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Moyamoya disease and syndromes: from genetics to clinical management

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Association of Cerebral Oxymetry with Short-Term Outcome in Critically ill Children Undergoing Extracorporeal Membrane Oxygenation

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

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Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

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Neurological features related to influenza virus in the pediatric population: a 3-year monocentric retrospective study

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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

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Long-term Outcome After Multiple Burr Hole Surgery in Children With Moyamoya Angiopathy: A Single-Center Experience in 108 Hemispheres

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De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

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Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

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Pediatric brain arteriovenous malformation recurrence: a cohort study, systematic review and meta-analysis

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Mechanical Thrombectomy for Pediatric Large Vessel Occlusions: A Systematic Review and Meta-analysis

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First Line Onyx Embolization in Ruptured Pediatric Arteriovenous Malformations: Safety and Efficacy

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Recanalization Treatments for Pediatric Acute Ischemic Stroke in France

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CD34+ Hematopoietic Stem Cell Count Is Predictive of Vascular Event Occurrence in Children with Sickle Cell Disease

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