Search Results - "Moutard, M.‐L."

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions by Maurice, P., Guilbaud, L., Garel, J., Mine, M., Dugas, A., Friszer, S., Maisonneuve, E., Moutard, M.‐L., Coste, T., Héron, D., Tournier‐Lasserve, E., Garel, C., Jouannic, J.‐M.

“…ABSTRACT Objective To establish the prevalence of COL4A1 and COL4A2 gene mutations in fetuses presenting with a phenotype suggestive of cerebral injury…”
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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients by Chérot, E., Keren, B., Dubourg, C., Carré, W., Fradin, M., Lavillaureix, A., Afenjar, A., Burglen, L., Whalen, S., Charles, P., Marey, I., Heide, S., Jacquette, A., Heron, D., Doummar, D., Rodriguez, D., Billette de Villemeur, T., Moutard, M.‐L., Guët, A., Xavier, J., Périsse, D., Cohen, D., Demurger, F., Quélin, C., Depienne, C., Odent, S., Nava, C., David, V., Pasquier, L., Mignot, C.

“…Although whole‐exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic…”
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Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results by Millischer, A-E, Grevent, D, Sonigo, P, Bahi-Buisson, N, Desguerre, I, Mahallati, H, Bault, J-P, Quibel, T, Couderc, S, Moutard, M-L, Julien, E, Dangouloff, V, Bessieres, B, Malan, V, Attie, T, Salomon, L-J, Boddaert, N

“…Prognosis of isolated short corpus callosum is challenging. Our aim was to assess whether fetal DTI tractography can distinguish callosal dysplasia from…”
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Normal EEG in childhood: From neonates to adolescents by Eisermann, M, Kaminska, A, Moutard, M.-L, Soufflet, C, Plouin, P

“…Summary The important EEG changes that occur throughout childhood are a major challenge for the neurophysiologist. These reflect brain maturation, which is…”
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Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis by Massoud, M., Cagneaux, M., Garel, C., Varene, N., Moutard, M.‐L., Billette, T., Benezit, A., Rougeot, C., Jouannic, J.‐M., Massardier, J., Gaucherand, P., Desportes, V., Guibaud, L.

“…ABSTRACT Objective To define imaging patterns of unilateral cerebellar hypoplasia (UCH), discuss possible pathophysiological mechanisms and underline the…”
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Biometry of the Corpus Callosum in Children: MR Imaging Reference Data by GAREL, C, CONT, I, ALBERTI, C, JOSSERAND, E, MOUTARD, M. L, DUCOU LE POINTE, H

“…The availability of data relating to the biometry of the CC in children that are easy to use in daily practice is limited. We present a reference biometry of…”
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Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis by Damaj, L., Bruneau, B., Ferry, M., Moutard, M.-L., Garel, C., Odent, S., Adamsbaum, C., Avni, F., Tréguier, C., Lazaro, L.

“…Background Isolated Septal Agenesis (SA) is a rare disease with clinical outcomes (especially neurological outcomes) that are unknown. The purpose of this…”
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Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? by El Chehadeh, S., Touraine, R., Prieur, F., Reardon, W., Bienvenu, T., Chantot‐Bastaraud, S., Doco‐Fenzy, M., Landais, E., Philippe, C., Marle, N., Callier, P., Mosca‐Boidron, A.‐L., Mugneret, F., Le Meur, N., Goldenberg, A., Guerrot, A.‐M., Chambon, P., Satre, V., Coutton, C., Jouk, P.‐S., Devillard, F., Dieterich, K., Afenjar, A., Burglen, L., Moutard, M.‐L., Addor, M.‐C., Lebon, S., Martinet, D., Alessandri, J.‐L., Doray, B., Miguet, M., Devys, D., Saugier‐Veber, P., Drunat, S., Aral, B., Kremer, V., Rondeau, S., Tabet, A.‐C., Thevenon, J., Thauvin‐Robinet, C., Perreton, N., Des Portes, V., Faivre, L.

“…Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy,…”
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Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty by Garel, C., Rosenblatt, J., Moutard, M. L., Heron, D., Gelot, A., Gonzales, M., Miné, E., Jouannic, J. M.

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Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging by Blondiaux, E., Sileo, C., Nahama‐Allouche, C., Moutard, M. L., Gelot, A., Jouannic, J. M., Ducou le Pointe, H., Garel, C.

“…ABSTRACT Objectives To describe the prenatal ultrasound and magnetic resonance imaging (MRI) findings suggestive of periventricular nodular heterotopia (PNH)…”
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Correlation between pre‐ and postnatal cerebral magnetic resonance imaging by Dhouib, A., Blondiaux, E., Moutard, M. L., Billette de Villemeur, T., Chalard, F., Jouannic, J. M., Ducou le Pointe, H., Garel, C.

“…Objectives To evaluate the diagnostic accuracy of fetal cerebral magnetic resonance imaging (MRI) on a large cohort and to compare pre‐ and postnatal MRI data…”
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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) by des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

“…Subcortical laminar heterotopia (SCLH), or ‘double cortex’, is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical…”
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Agitation and changes of Bispectral Index and electroencephalographic-derived variables during sevoflurane induction in children: clonidine premedication reduces agitation compared with midazolam by Constant, I, Leport, Y, Richard, P, Moutard, M-L, Murat, I

“…This double-blind randomized study was undertaken to assess agitation, Bispectral Index (BIS) and EEG changes during induction of anaesthesia with sevoflurane…”
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Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi by Anselem, O, Bazin, A, Mechler, C, Blin, G, Garel, C, Aboura, A, Moutard, M-L, Mandelbrot, L

“…We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid…”
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A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21 by Ali, M, Highet, L J, Lacombe, D, Goizet, C, King, M D, Tacke, U, van der Knaap, M S, Lagae, L, Rittey, C, Brunner, H G, van Bokhoven, H, Hamel, B, Oade, Y A, Sanchis, A, Desguerre, I, Cau, D, Mathieu, N, Moutard, M L, Lebon, P, Kumar, D, Jackson, A P, Crow, Y J

“…Background: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic…”
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Changes in electroencephalogram and autonomic cardiovascular activity during induction of anesthesia with Sevoflurane compared with halothane in Children by CONSTANT, I, DUBOIS, M.-C, PIAT, V, MOUTARD, M.-L, MCCUE, M, MURAT, I

“…This study was design to assess clinical agitation, electroencephalogram (EEG) and autonomic cardiovascular activity changes in children during induction of…”
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Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation by Desguerre, I, Pinton, F, Nabbout, R, Moutard, M L, N'Guyen, S, Marsac, C, Ponsot, G, Dulac, O

“…To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt…”
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Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum by Shen, O., Gelot, A. B., Moutard, M. L., Jouannic, J. M., Sela, H. Y., Garel, C.

“…Objective To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi…”
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Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case by Carré, Aurore, Szinnai, Gabor, Castanet, Mireille, Sura-Trueba, Sylvia, Tron, Elodie, Broutin-L’Hermite, Isabelle, Barat, Pascal, Goizet, Cyril, Lacombe, Didier, Moutard, Marie-Laure, Raybaud, Christine, Raynaud-Ravni, Catherine, Romana, Serge, Ythier, Hubert, Léger, Juliane, Polak, Michel

“…Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain–lung–thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory…”
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Prenatal features of isolated subependymal pseudocysts associated with adverse pregnancy outcome by Esteban, H., Blondiaux, E., Audureau, E., Sileo, C., Moutard, M. L., Gelot, A., Jouannic, J. M., Ducou le Pointe, H., Garel, C.

“…ABSTRACT Objectives To identify at prenatal ultrasound (US) the features of apparently isolated subependymal pseudocysts (SEPC) that may indicate underlying…”
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