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Imaging features to distinguish posterior fossa ependymoma subgroups.
Published in:
European Radiology, 2024, v. 34, n. 3, p. 1534, doi. 10.1007/s00330-023-10182-5
By:
- Leclerc, Thomas;
- Levy, Raphael;
- Tauziède-Espariat, Arnault;
- Roux, Charles-Joris;
- Beccaria, Kevin;
- Blauwblomme, Thomas;
- Puget, Stéphanie;
- Grill, Jacques;
- Dufour, Christelle;
- Guerrini-Rousseau, Léa;
- Abbou, Samuel;
- Bolle, Stéphanie;
- Roux, Alexandre;
- Pallud, Johan;
- Provost, Corentin;
- Oppenheim, Catherine;
- Varlet, Pascale;
- Boddaert, Nathalie;
- Dangouloff-Ros, Volodia
Publication type:
Article
Spectrum of neuroradiological manifestations in primary hemophagocytic lymphohistiocytosis: a comparative study of EBV-induced versus non-EBV-induced forms in 75 genetically confirmed pediatric cases.
Published in:
European Radiology, 2023, v. 33, n. 10, p. 7149, doi. 10.1007/s00330-023-09649-2
By:
- Charpentier, Hélène;
- Roux, Charles-Joris;
- Leroux, Pauline;
- Briand, Coralie;
- Levy, Raphaël;
- Dangouloff-Ros, Volodia;
- Desguerre, Isabelle;
- Neven, Bénédicte;
- Moshous, Despina;
- Boddaert, Nathalie
Publication type:
Article
The longitudinal evolution of cerebral blood flow in children with tuberous sclerosis assessed by arterial spin labeling magnetic resonance imaging may be related to cognitive performance.
Published in:
European Radiology, 2023, v. 33, n. 1, p. 196, doi. 10.1007/s00330-022-09036-3
By:
- Rutten, Caroline;
- Fillon, Ludovic;
- Kuchenbuch, Mathieu;
- Saitovitch, Ana;
- Boisgontier, Jennifer;
- Chemaly, Nicole;
- Breuillard, Delphine;
- Ouss, Lisa;
- Dangouloff-Ros, Volodia;
- Blauwblomme, Thomas;
- Zilbovicius, Monica;
- Nabbout, Rima;
- Boddaert, Nathalie
Publication type:
Article
Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of histological and biological characteristics with multimodal MRI features.
Published in:
European Radiology, 2021, v. 31, n. 12, p. 8913, doi. 10.1007/s00330-021-07991-x
By:
- Calmon, Raphaël;
- Dangouloff-Ros, Volodia;
- Varlet, Pascale;
- Deroulers, Christophe;
- Philippe, Cathy;
- Debily, Marie-Anne;
- Castel, David;
- Beccaria, Kevin;
- Blauwblomme, Thomas;
- Grevent, David;
- Levy, Raphael;
- Roux, Charles-Joris;
- Purcell, Yvonne;
- Saitovitch, Ana;
- Zilbovicius, Monica;
- Dufour, Christelle;
- Puget, Stéphanie;
- Grill, Jacques;
- Boddaert, Nathalie
Publication type:
Article
Individual radiation exposure from computed tomography: a survey of paediatric practice in French university hospitals, 2010-2013.
Published in:
2018
By:
- Journy, Neige M. Y.;
- Dreuil, Serge;
- Boddaert, Nathalie;
- Chateil, Jean-François;
- Defez, Didier;
- Ducou-le-Pointe, Hubert;
- Garcier, Jean-Marc;
- Guersen, Joël;
- Habib Geryes, Bouchra;
- Jahnen, Andreas;
- Lee, Choonsik;
- Payen-de-la-Garanderie, Jacqueline;
- Pracros, Jean-Pierre;
- Sirinelli, Dominique;
- Thierry-chef, Isabelle;
- Bernier, Marie-Odile
Publication type:
journal article
Patient radiation doses and reference levels in pediatric interventional radiology.
Published in:
2017
By:
- Habib Geryes, Bouchra;
- Bak, Adeline;
- Lachaux, Julie;
- Ozanne, Augustin;
- Boddaert, Nathalie;
- Brunelle, Francis;
- Naggara, Olivier;
- Saliou, Guillaume
Publication type:
journal article
Radiation dose reduction in paediatric coronary computed tomography: assessment of effective dose and image quality.
Published in:
2016
By:
- Habib Geryes, Bouchra;
- Calmon, Raphael;
- Khraiche, Diala;
- Boddaert, Nathalie;
- Bonnet, Damien;
- Raimondi, Francesca
Publication type:
journal article
A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions.
Published in:
2022
By:
- Tauziède-Espariat, Arnault;
- Chotard, Guillaume;
- le Loarer, François;
- Baud, Jessica;
- Azmani, Rihab;
- Dangouloff-Ros, Volodia;
- Boddaert, Nathalie;
- Icher-de-Bouyn, Céline;
- Gimbert, Edouard;
- Hasty, Lauren;
- Métais, Alice;
- Chrétien, Fabrice;
- Varlet, Pascale
Publication type:
Case Study
Abnormal Interhemispheric Synchrony in Neonatal Hypoxic-Ischemic Encephalopathy: A Retrospective Pilot Study.
Published in:
Neonatology (16617800), 2017, v. 112, n. 4, p. 359, doi. 10.1159/000478964
By:
- Leroy-Terquem, Elise;
- Vermersch, anne Isabelle;
- Dean, Pauline;
- assaf, Ziad;
- Boddaert, Nathalie;
- Lapillonne, alexandre;
- Magny, Jean-François
Publication type:
Article
Predicting endoscopic third ventriculostomy success in pediatric shunt dysfunction: a monocentric retrospective case series of 70 consecutive children, systematic review, and meta-analysis.
Published in:
Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 6, p. 638, doi. 10.3171/2023.9.PEDS23208
By:
- Guida, Lelio;
- Grenier-Chartrand, Flavie;
- Benichi, Sandro;
- James, Syril;
- Paternoster, Giovanna;
- Bourgeois, Marie;
- Dangouloff-Ros, Volodia;
- Messina, Antonio;
- Boddaert, Nathalie;
- Puget, Stéphanie;
- Beccaria, Kevin;
- Blauwblomme, Thomas
Publication type:
Article
How can we differentiate supratentorial tumor recurrence from postradiation imaging changes in children treated for primary malignant brain tumors?
Published in:
Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 2, p. 173, doi. 10.3171/2023.3.PEDS22386
By:
- Zittoun, Jacob;
- Dangouloff-Ros, Volodia;
- Cardoen, Liesbeth;
- Rutten, Caroline;
- Bolle, Stéphanie;
- Alapetite, Claire;
- Levy, Raphaël;
- Grévent, David;
- Grill, Jacques;
- Brisse, Hervé J.;
- Doz, François;
- Blauwblomme, Thomas;
- Beccaria, Kévin;
- Charpy, Sarah;
- Roux, Charles-Joris;
- Varlet, Pascale;
- Dufour, Christelle;
- Puget, Stéphanie;
- Boddaert, Nathalie
Publication type:
Article
Temporosylvian arachnoid cysts in children. Part 2: Postoperative neuropsychological and clinical improvement.
Published in:
Journal of Neurosurgery: Pediatrics, 2022, v. 30, n. 2, p. 150, doi. 10.3171/2021.11.PEDS21207
By:
- Cuny, Marie-Laure;
- Piolino, Pascale;
- Paternoster, Giovanna;
- Piana, Hélène;
- Blauwblomme, Thomas;
- Beccaria, Kévin;
- Bourgeois, Marie;
- Stricker, Sarah;
- Prodhomme, Julie;
- Trousson, Clémence;
- Navarro, Béatrice;
- Esnault, Eglantine;
- Cozzo, Mathilde;
- Abram, Maria;
- James, Syril;
- Boddaert, Nathalie;
- Sainte-Rose, Christian;
- Vaivre-Douret, Laurence;
- Puget, Stephanie
Publication type:
Article
Temporosylvian arachnoid cysts in children. Part 1: Cognitive profile of children with a temporal cyst and impact of the cyst in daily life. A prospective study in 100 consecutive children.
Published in:
Journal of Neurosurgery: Pediatrics, 2022, v. 30, n. 2, p. 138, doi. 10.3171/2021.11.PEDS21203
By:
- Cuny, Marie-Laure;
- Vaivre-Douret, Laurence;
- Piana, Hélène;
- Blauwblomme, Thomas;
- Beccaria, Kévin;
- Paternoster, Giovanna;
- Bourgeois, Marie;
- James, Syril;
- Zerah, Michel;
- Prodhomme, Julie;
- Esnault, Eglantine;
- Cozzo, Mathilde;
- Trousson, Clémence;
- Navarro, Béatrice;
- Stricker, Sarah;
- Boddaert, Nathalie;
- Sainte-Rose, Christian;
- Piolino, Pascale;
- Puget, Stephanie
Publication type:
Article
Description and Contribution of Brain Magnetic Resonance Imaging in Nontraumatic Critically Ill Children.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 14, p. 1584, doi. 10.1177/0883073816666737
By:
- Mortamet, Guillaume;
- Kossorotoff, Manoelle;
- Baptiste, Amandine;
- Boddaert, Nathalie;
- Castelle, Martin;
- Hubert, Philippe;
- Lesage, Fabrice;
- Renolleau, Sylvain;
- Oualha, Mehdi
Publication type:
Article
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Published in:
2016
By:
- Megahed, Hisham;
- Nicouleau, Michaël;
- Barcia, Giulia;
- Medina-Cano, Daniel;
- Siquier-Pernet, Karine;
- Bole-Feysot, Christine;
- Parisot, Mélanie;
- Masson, Cécile;
- Nitschké, Patrick;
- Rio, Marlène;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Boddaert, Nathalie;
- Colleaux, Laurence;
- Cantagrel, Vincent
Publication type:
journal article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-148
By:
- Nizon, Mathilde;
- Ottolenghi, Chris;
- Valayannopoulos, Vassili;
- Arnoux, Jean-Baptiste;
- Barbier, Valérie;
- Habarou, Florence;
- Desguerre, Isabelle;
- Boddaert, Nathalie;
- Bonnefont, Jean-Paul;
- Acquaviva, Cécile;
- Benoist, Jean-François;
- Rabier, Daniel;
- Touati, Guy;
- de Lonlay, Pascale
Publication type:
Article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-192
By:
- Soreze, Yohan;
- Boutron, Audrey;
- Habarou, Florence;
- Barnerias, Christine;
- Nonnenmacher, Luc;
- Delpech, Hélène;
- Mamoune, Asmaa;
- Chrétien, Dominique;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Correia, Isabelle;
- Sardet, Claude;
- Boddaert, Nathalie;
- Hamel, Yamina;
- Delahodde, Agnès;
- Ottolenghi, Chris;
- de Lonlay, Pascale
Publication type:
Article
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Published in:
2013
By:
- Nizon, Mathilde;
- Ottolenghi, Chris;
- Valayannopoulos, Vassili;
- Arnoux, Jean-Baptiste;
- Barbier, Valérie;
- Habarou, Florence;
- Desguerre, Isabelle;
- Boddaert, Nathalie;
- Bonnefont, Jean-Paul;
- Acquaviva, Cécile;
- Benoist, Jean-François;
- Rabier, Daniel;
- Touati, Guy;
- de Lonlay, Pascale
Publication type:
journal article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Published in:
2013
By:
- Soreze, Yohan;
- Boutron, Audrey;
- Habarou, Florence;
- Barnerias, Christine;
- Nonnenmacher, Luc;
- Delpech, Hélène;
- Mamoune, Asmaa;
- Chrétien, Dominique;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Correia, Isabelle;
- Sardet, Claude;
- Boddaert, Nathalie;
- Hamel, Yamina;
- Delahodde, Agnès;
- Ottolenghi, Chris;
- de Lonlay, Pascale
Publication type:
journal article
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1172-7-32
By:
- Häberle, Johannes;
- Boddaert, Nathalie;
- Burlina, Alberto;
- Chakrapani, Anupam;
- Dixon, Marjorie;
- Huemer, Martina;
- Karall, Daniela;
- Martinelli, Diego;
- Crespo, Pablo Sanjurjo;
- Santer, René;
- Servais, Aude;
- Valayannopoulos, Vassili;
- Lidner, Martin;
- Rubio, Vicente;
- Dionisi-Vici, Carlo
Publication type:
Article
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. e59, doi. 10.1093/brain/awad054
By:
- Desguerre, Isabelle;
- Aubart, Melodie;
- Hashimoto, Yosuke;
- Poirier, Karine;
- Kaminska, Anna;
- Alison, Marianne;
- Boddaert, Nathalie;
- Munnich, Arnold;
- Campbell, Matthew
Publication type:
Article
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Published in:
2022
By:
- Hashimoto, Yosuke;
- Poirier, Karine;
- Boddaert, Nathalie;
- Hubert, Laurence;
- Aubart, Melodie;
- Kaminska, Anna;
- Alison, Marianne;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Campbell, Matthew
Publication type:
journal article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Published in:
2022
By:
- Guasto, Alessandra;
- Dubail, Johanne;
- Aguilera-Albesa, Sergio;
- Paganini, Chiara;
- Vanhulle, Catherine;
- Haouari, Walid;
- Gorría-Redondo, Nerea;
- Aznal-Sainz, Elena;
- Boddaert, Nathalie;
- Planas-Serra, Laura;
- Schlüter, Agatha;
- Vélez-Santamaría, Valentina;
- Verdura, Edgard;
- Bruneel, Arnaud;
- Rossi, Antonio;
- Huber, Céline;
- Pujol, Aurora;
- Cormier-Daire, Valérie
Publication type:
journal article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Published in:
2018
By:
- Gerber, Sylvie;
- Charif, Majida;
- Chevrollier, Arnaud;
- Chaumette, Tanguy;
- Angebault, Claire;
- Kane, Selma;
- Paris, Aurélien;
- Alban, Jennifer;
- Quiles, Mélanie;
- Delettre, Cécile;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Amati-Bonneau, Patrizia;
- Reynier, Pascal;
- Leruez, Stéphanie;
- Calmon, Raphael;
- Boddaert, Nathalie;
- Funalot, Benoit;
- Rio, Marlène;
- Bouccara, Didier
Publication type:
Letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Published in:
2017
By:
- Gerber, Sylvie;
- Charif, Majida;
- Chevrollier, Arnaud;
- Chaumette, Tanguy;
- Angebault, Claire;
- Selma Kane, Mariame;
- Paris, Aurélien;
- Alban, Jennifer;
- Quiles, Mélanie;
- Delettre, Cécile;
- Bonneau, Dominique;
- Procaccio, Vincent;
- Amati-Bonneau, Patrizia;
- Reynier, Pascal;
- Leruez, Stéphanie;
- Calmon, Raphael;
- Boddaert, Nathalie;
- Funalot, Benoit;
- Rio, Marlène;
- Bouccara, Didier
Publication type:
journal article
Children often present with infantile spasms after herpetic encephalitis.
Published in:
Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1571, doi. 10.1111/epi.12258
By:
- Aznar Laín, Gemma;
- Dellatolas, Georges;
- Eisermann, Monika;
- Boddaert, Nathalie;
- Chiron, Catherine;
- Bulteau, Christine;
- Monteiro, José P.;
- An, Isabelle;
- Pédespan, Jean‐Michel;
- Cancès, Claude;
- Peudenier, Sylvianne;
- Barthez, Marie‐Anne;
- Milh, Mathieu;
- Dorfmuller, Georges;
- Héron, Bénédicte;
- Nabbout, Rima;
- Grevent, David;
- Dulac, Olivier
Publication type:
Article
Epileptic phenotypes in children with respiratory chain disorders.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 7, p. 1225, doi. 10.1111/j.1528-1167.2009.02504.x
By:
- Sabbagh, Sandra El;
- Lebre, Anne-Sophie;
- Bahi-Buisson, Nadia;
- Delonlay, Pascale;
- Soufflet, Christine;
- Boddaert, Nathalie;
- Rio, Marlène;
- Rötig, Agnès;
- Dulac, Olivier;
- Munnich, Arnold;
- Desguerre, Isabelle
Publication type:
Article
The three stages of epilepsy in patients with CDKL5 mutations.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
By:
- Bahi-Buisson, Nadia;
- Kaminska, Anna;
- Boddaert, Nathalie;
- Rio, Marlène;
- Afenjar, Alexandra;
- Gérard, Marion;
- Giuliano, Fabienne;
- Motte, Jacques;
- Héron, Delphine;
- Morel, Marie Ange N'Guyen;
- Plouin, Perrine;
- Richelme, Christian;
- des Portes, Vincent;
- Dulac, Olivier;
- Philippe, Christophe;
- Chiron, Catherine;
- Nabbout, Rima;
- Bienvenu, Thierry
Publication type:
Article
Evidence of spinal stiffening following fusionless bipolar fixation for neuromuscular scoliosis: a shear wave elastography assessment of lumbar annulus fibrosus.
Published in:
European Spine Journal, 2024, v. 33, n. 4, p. 1617, doi. 10.1007/s00586-023-08013-8
By:
- Gaume, Mathilde;
- Loiselet, Klervie;
- Chekir, Hedi;
- Langlais, Tristan;
- Boddaert, Nathalie;
- Stricker, Sarah;
- Pannier, Stéphanie;
- Skalli, Wafa;
- Miladi, Lotfi;
- Vergari, Claudio
Publication type:
Article
Craniopharyngioma: the pendulum of surgical management.
Published in:
Child's Nervous System, 2005, v. 21, n. 8/9, p. 691, doi. 10.1007/s00381-005-1209-2
By:
- Sainte-Rose, Christian;
- Puget, Stéphanie;
- Wray, Alison;
- Zerah, Michel;
- Grill, Jacques;
- Brauner, Raja;
- Boddaert, Nathalie;
- Pierre-Kahn, Alain
Publication type:
Article
Fast-track virtual reality software to facilitate 3-dimensional reconstruction in congenital heart disease.
Published in:
Interdisciplinary Cardiovascular & Thoracic Surgery, 2023, v. 36, n. 6, p. 1, doi. 10.1093/icvts/ivad087
By:
- Bertelli, Francesco;
- Raimondi, Francesca;
- Godard, Charlotte;
- Bergonzoni, Emma;
- Cattapan, Claudia;
- Gastino, Elisa;
- Galliotto, Francesco;
- Boddaert, Nathalie;
- Beheiry, Mohamed El;
- Masson, Jean-Baptiste;
- Guariento, Alvise;
- Vida, Vladimiro L
Publication type:
Article
Posterior Fossa Arachnoid Cyst in a Pediatric Population is Associated with Social Perception and Rest Cerebral Blood Flow Abnormalities.
Published in:
Cerebellum, 2020, v. 19, n. 1, p. 58, doi. 10.1007/s12311-019-01082-w
By:
- Rechtman, Elza;
- Puget, Stephanie;
- Saitovitch, Ana;
- Lemaitre, Hervé;
- Fillion, Ludovic;
- Tacchella, Jean-Marc;
- Boisgontier, Jennifer;
- Cuny, Marie-Laure;
- Boddaert, Nathalie;
- Zilbovicius, Monica
Publication type:
Article
Comprehensive Review of 3D Segmentation Software Tools for MRI Usable for Pelvic Surgery Planning.
Published in:
Journal of Digital Imaging, 2020, v. 33, n. 1, p. 99, doi. 10.1007/s10278-019-00239-7
By:
- Virzì, Alessio;
- Muller, Cécile Olivia;
- Marret, Jean-Baptiste;
- Mille, Eva;
- Berteloot, Laureline;
- Grévent, David;
- Boddaert, Nathalie;
- Gori, Pietro;
- Sarnacki, Sabine;
- Bloch, Isabelle
Publication type:
Article
Radiation-free and injection-free imaging of the paediatric chest using a magnetic resonance imaging protocol including zero time echo sequence (3D-ZTE).
Published in:
European Journal of Pediatrics, 2024, v. 183, n. 10, p. 4297, doi. 10.1007/s00431-024-05678-1
By:
- Drummond, David;
- Marquant, Fabienne;
- Zanelli, Elisa;
- Lozach, Cécile;
- Boddaert, Nathalie;
- Taam, Rola Abou;
- Neven, Bénédicte;
- Le Bourgeois, Muriel;
- Hadchouel, Alice;
- Sarnacki, Sabine;
- Elie, Caroline;
- Delacourt, Christophe;
- Berteloot, Laureline
Publication type:
Article
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1304, doi. 10.1002/ajmg.a.61151
By:
- Guimier, Anne;
- Gordon, Christopher T.;
- Hully, Marie;
- Blauwblomme, Thomas;
- Minard‐Colin, Véronique;
- Bole‐Feysot, Christine;
- Nitschké, Patrick;
- Oufadem, Myriam;
- Boddaert, Nathalie;
- Sarnacki, Sabine;
- Amiel, Jeanne
Publication type:
Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
By:
- Alby, Caroline;
- Boutaud, Lucile;
- Bessières, Bettina;
- Serre, Valérie;
- Rio, Marlene;
- Cormier‐Daire, Valerie;
- de Oliveira, Judith;
- Ichkou, Amale;
- Mouthon, Linda;
- Gordon, Christopher T.;
- Bonnière, Maryse;
- Mechler, Charlotte;
- Nitschke, Patrick;
- Bole, Christine;
- Lyonnet, Stanislas;
- Bahi‐Buisson, Nadia;
- Boddaert, Nathalie;
- Colleaux, Laurence;
- Roth, Philippe;
- Ville, Yves
Publication type:
Article
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 181, doi. 10.1002/ajmg.a.38536
By:
- Gordon, Christopher T.;
- Chopra, Maya;
- Oufadem, Myriam;
- Alibeu, Olivier;
- Bras, Marc;
- Boddaert, Nathalie;
- Bole‐Feysot, Christine;
- Nitschké, Patrick;
- Abadie, Véronique;
- Lyonnet, Stanislas;
- Amiel, Jeanne
Publication type:
Article
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1521, doi. 10.1002/ajmg.a.38212
By:
- Santoro, Claudia;
- Di Rocco, Federico;
- Kossorotoff, Manoelle;
- Zerah, Michel;
- Boddaert, Nathalie;
- Calmon, Raphael;
- Vidaud, Dominique;
- Cirillo, Mario;
- Cinalli, Giuseppe;
- Mirone, Giuseppe;
- Giugliano, Teresa;
- Piluso, Giulio;
- D'Amico, Alessandra;
- Capra, Valeria;
- Pavanello, Marco;
- Cama, Armando;
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A novel recurrent LIS1 splice site mutation in classic lissencephaly.
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Brain perfusion magnetic resonance imaging using pseudocontinuous arterial spin labeling in 314 dogs and cats.
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Une hypoplasie ponto-cérébelleuse causée par l'accumulation d'un inositol phosphate.
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Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne.
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
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Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
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Prevalence of pituitary dysfunction after severe traumatic brain injury in children and adolescents: a large prospective study.
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Fluid suppression in amide proton transfer‐weighted (APTw) CEST imaging: New theoretical insights and clinical benefits.
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Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease.
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Functional neuroimaging and childhood autism.
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