MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
Le Meur, N, Holder-Espinasse, M, Jaillard, S, Goldenberg, A, Joriot, S, Amati-Bonneau, P, Guichet, A, Barth, M, Charollais, A, Journel, H, Auvin, S, Boucher, C, Kerckaert, J-P, David, V, Manouvrier-Hanu, S, Saugier-Veber, P, Frébourg, T, Dubourg, C, Andrieux, J, Bonneau, D
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Journal Article
Contribution of fetal brain MRI in management of severe fetal anemia
Ghesquière, L., Houfflin-Debarge, V., Verpillat, P., Fourquet, T., Joriot, S., Coulon, C., Vaast, P., Garabedian, C.
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2018)
Published in European journal of obstetrics & gynecology and reproductive biology (01.09.2018)
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Journal Article
A GPHN point mutation leading to molybdenum cofactor deficiency
Reiss, J, Lenz, U, Aquaviva-Bourdain, C, Joriot-Chekaf, S, Mention-Mulliez, K, Holder-Espinasse, M
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
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Journal Article
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
Bahi-Buisson, N, Poirier, K, Boddaert, N, Saillour, Y, Castelnau, L, Philip, N, Buyse, G, Villard, L, Joriot, S, Marret, S, Bourgeois, M, Van Esch, H, Lagae, L, Amiel, J, Hertz-Pannier, L, Roubertie, A, Rivier, F, Pinard, J M, Beldjord, C, Chelly, J
Published in Journal of medical genetics (01.10.2008)
Published in Journal of medical genetics (01.10.2008)
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Journal Article
Organization of collaborative deliberation for limiting or withholding treatments in children
Cremer, R, Lervat, C, Laffargue, A, Le Cunff, J, Joriot, S, Minnaert, C, Cuisset, J-M, Mention, K, Thomas, D, Guimber, D, Matthews, A, Fayoux, P, Storme, L, Vandoolaeghe, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2015)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2015)
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Journal Article
Characteristics of tuberous sclerosis in children
Riquet, A, Cuisset, J-M, Cuvellier, J-C, Joriot, S, Petit, F, Vallée, L
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.09.2010)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.09.2010)
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Journal Article
The consulting physician for withdrawal of life-sustaining treatments in children
Cremer, R, Fayoux, P, Guimber, D, Joriot, S, Laffargue, A, Lervat, C, Matthews, A, Mention, K, Sfeir, R, Storme, L, Thomas, D, Thumerelle, C, Vandoolaeghe, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
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Journal Article
Le médecin consultant pour les limitations et les arrêts de traitement en pédiatrie
Cremer, R., Fayoux, P., Guimber, D., Joriot, S., Laffargue, A., Lervat, C., Matthews, A., Mention, K., Sfeir, R., Storme, L., Thomas, D., Thumerelle, C., Vandoolaeghe, S.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
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Journal Article
Diastématomyélie: difficultés du diagnostic anténatal
Hannebicque-Montaigne, K., Chaffiotte, C., Joriot, S., Vinchon, M., Deruelle, P.
Published in Revue de médecine périnatale (01.12.2010)
Published in Revue de médecine périnatale (01.12.2010)
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Journal Article
La douleur chez l’enfant en situation de handicap neurologique : mise au point de la Commission « déficience intellectuelle et handicap » de la Société française de neurologie pédiatrique
Avez-Couturier, J., Joriot, S., Peudenier, S., Juzeau, D.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.01.2018)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.01.2018)
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Journal Article
Initiation of a systematic screening for neurodevelopmental disorder program for infants with congenital heart disease
Domanski, O., Joriot, S., Houeijeh, A., Baudelet, J.B., Chaton, L., Renard, J.-M., Le Duc, K., Lampin, M., Billotte, M., Godart, F., Tich, S. Nguyen The
Published in Archives of Cardiovascular Diseases Supplements (01.01.2023)
Published in Archives of Cardiovascular Diseases Supplements (01.01.2023)
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Journal Article
Initiation of a systematic screening for neurodevelopmental disorder program for infants with congenital heart disease
Domanski, O., Joriot, S., Houeijeh, A., Baudelet, J.B., Chaton, L., Renard, J.M., Leduc, K., Lampin, M., Billotte, M., Godart, F., Nguyen The Tich, S.
Published in Archives of cardiovascular diseases supplements (01.09.2022)
Published in Archives of cardiovascular diseases supplements (01.09.2022)
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Journal Article
Prenatal analysis of primary sulci by ultrasonography and MRI
Quemener, J, Bigot, J, Joriot, S, Devisme, L, Bourgeot, P, Debarge, V, Subtil, D
Published in Gynécologie, obstétrique & fertilité (01.11.2012)
Published in Gynécologie, obstétrique & fertilité (01.11.2012)
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Journal Article
Ten practical issues concerning acute poisoning with carbon monoxide in pregnant women
Bothuyne-Queste, E, Joriot, S, Mathieu, D, Mathieu-Nolf, M, Favory, R, Houfflin-Debarge, V, Vaast, P, Closset, E, Subtil, D
Published in Journal de gynecologie, obstetrique et biologie de la reproduction (01.04.2014)
Published in Journal de gynecologie, obstetrique et biologie de la reproduction (01.04.2014)
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Journal Article
Traitement médicamenteux de l’accès migraineux chez l’enfant
Cuvellier, J.C., Joriot, S., Auvin, S., Vallée, L.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.03.2005)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.03.2005)
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Journal Article
Small vessel abnormalities in alternating hemiplegia of childhood: pathophysiologic implications
Auvin, S, Joriot-Chekaf, S, Cuvellier, J C, Pandit, F, Cuisset, J M, Ruchoux, M M, Vallée, L
Published in Neurology (28.02.2006)
Published in Neurology (28.02.2006)
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