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15 results for Serre,+Valérie

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Books
Catalogue général des livres imprimés de la Bibliothèque nationale. Auteurs / Bibliothèque nationale.
Author / Creator:Bibliothèque nationale (France)
Publisher:Paris : Impr. nationale, 1897-1981.
Date:1897-1981.
Call Numbers:T0154087 , T0154145 , T0154152 , T0154151 , T0154086 , T0154085 , T0154211 , T0154210 , T0154142 , T0154143 , T0154227 , T0154226 , T0154155 , T0154154 , T0154153 , T0154144 , T0154101 , T0154100 , T0154246 , T0154187 , T0154133 , T0154248 , T0154245 , T0154247 , T0154135 , T0154249 , T0154189 , T0154084 , T0154136 , T0154134 , T0154188 , T0154198 , T0154194 , T0154197 , T0154196 , T0154195 , T0154206 , T0154091 , T0154102 , T0154137 , T0154054 , T0154215 , T0154167 , T0154103 , T0154096 , T0154061 , T0154113 , T0154238 , T0154169 , T0154115 , T0154180 , T0154060 , T0154178 , T0154107 , T0154176 , T0154262 , T0154266 , T0154062 , T0154067 , T0154260 , T0154217 , T0154104 , T0154202 , T0154093 , T0154273 , T0154052 , T0154272 , T0154161 , T0154218 , T0154165 , T0154164 , T0154072 , T0154056 , T0154204 , T0154071 , T0154075 , T0154125 , T0154076 , T0154256 , T0154080 , T0154259 , T0154077 , T0154255 , T0154146 , T0154097 , T0154269 , T0154088 , T0154150 , T0154055 , T0154140 , T0154229 , T0154237 , T0154168 , T0154157 , T0154221 , T0154179 , T0154128 , T0154183 , T0154240 , T0154112 , T0154267 , T0154241 , T0154059 , T0154263 , T0154190 , T0154132 , T0154063 , T0154252 , T0154201 , T0154184 , T0154068 , T0154224 , T0154209 , T0154208 , T0154171 , T0154233 , T0154225 , T0154234 , T0154099 , T0154118 , T0154175 , T0154065 , T0154121 , T0154235 , T0154120 , T0154066 , T0154064 , T0154116 , T0154173 , T0154172 , T0154117 , T0154111 , T0154174 , T0154119 , T0154110 , T0154264 , T0154213 , T0154214 , T0154141 , T0154228 , T0154205 , T0154270 , T0154149 , T0154268 , T0154147 , T0154108 , T0154089 , T0154158 , T0154230 , T0154160 , T0154156 , T0154236 , T0154223 , T0154222 , T0154242 , T0154053 , T0154251 , T0154244 , T0154191 , T0154131 , T0154200 , T0154253 , T0154083 , T0154081 , T0154193 , T0154129 , T0154186 , T0154124 , T0154094 , T0154203 , T0154216 , T0154275 , T0154095 , T0154277 , T0154274 , T0154105 , T0154139 , T0154138 , T0154106 , T0154163 , T0154220 , T0154219 , T0154162 , T0154070 , T0154069 , T0154073 , T0154074 , T0154232 , T0154231 , T0154058 , T0154057 , T0154258 , T0154078 , T0154181 , T0154123 , T0154257 , T0154079 , T0154127 , T0154126 , T0154271 , T0154276 , T0154212 , T0154148 , T0154207 , T0154109 , T0154092 , T0154090 , T0154166 , T0154098 , T0154159 , T0154239 , T0154114 , T0154170 , T0154250 , T0154182 , T0154177 , T0154243 , T0154265 , T0154254 , T0154082 , T0154199 , T0154192 , T0154130 , T0154122 , T0154261 , T0154185
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ArticlesPeer ReviewedFull Text
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Author / Creator:Marrakchi, Slaheddine ; Guigue, Philippe ; Renshaw, Blair R ; Puel, Anne ; Pei, Xue-Yuan ; Fraitag, Sylvie ; Zribi, Jihen ; Bal, Elodie ; Cluzeau, Céline ; Chrabieh, Maya ; Towne, Jennifer E ; Douangpanya, Jason ; Pons, Christian ; Mansour, Sourour ; Serre, Valérie ; Makni, Hafedh ; Mahfoudh, Nadia ; Fakhfakh, Faiza ; Bodemer, Christine ; Feingold, Josué ; Hadj-Rabia, Smail ; Favre, Michel ; Genin, Emmanuelle ; Sahbatou, Mourad ; Munnich, Arnold ; Casanova, Jean-Laurent ; Sims, John E ; Turki, Hamida ; Bachelez, Hervé ; Smahi, Asma
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2011-08, Vol.365 (7), p.620-628
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ArticlesPeer ReviewedFull Text
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Author / Creator:Bourdon, Alice ; Minai, Limor ; Serre, Valérie ; Jais, Jean-Philippe ; Sarzi, Emmanuelle ; Aubert, Sophie ; Chrétien, Dominique ; de Lonlay, Pascale ; Paquis-Flucklinger, Véronique ; Arakawa, Hirofumi ; Nakamura, Yusuke ; Munnich, Arnold ; Rötig, Agnès
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-06, Vol.39 (6), p.776-780
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ArticlesPeer ReviewedFull Text
NDUFS6 related Leigh syndrome: a case report and review of the literature
Author / Creator:Rouzier, Cécile ; Chaussenot, Annabelle ; Fragaki, Konstantina ; Serre, Valérie ; Ait-El-Mkadem, Samira ; Richelme, Christian ; Paquis-Flucklinger, Véronique ; Bannwarth, Sylvie
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-07, Vol.64 (7), p.637-645
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ArticlesPeer ReviewedFull Text
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Author / Creator:Le Goff, Carine ; Mahaut, Clémentine ; Abhyankar, Avinash ; Le Goff, Wilfried ; Serre, Valérie ; Afenjar, Alexandra ; Destrée, Anne ; di Rocco, Maja ; Héron, Delphine ; Jacquemont, Sébastien ; Marlin, Sandrine ; Simon, Marleen ; Tolmie, John ; Verloes, Alain ; Casanova, Jean-Laurent ; Munnich, Arnold ; Cormier-Daire, Valérie
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-01, Vol.44 (1), p.85-88
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ArticlesPeer ReviewedFull Text
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy
Author / Creator:Gerber, Sylvie ; Ding, Martina G ; Gérard, Xavier ; Zwicker, Klaus ; Zanlonghi, Xavier ; Rio, Marlène ; Serre, Valérie ; Hanein, Sylvain ; Munnich, Arnold ; Rotig, Agnès ; Bianchi, Lucas ; Amati-Bonneau, Patrizia ; Elpeleg, Orly ; Kaplan, Josseline ; Brandt, Ulrich ; Rozet, Jean-Michel
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-05, Vol.54 (5), p.346-356
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ArticlesPeer ReviewedFull Text
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Author / Creator:Perrault, Isabelle ; Hanein, Sylvain ; Zanlonghi, Xavier ; Serre, Valérie ; Nicouleau, Michael ; Defoort-Delhemmes, Sabine ; Delphin, Nathalie ; Fares-Taie, Lucas ; Gerber, Sylvie ; Xerri, Olivia ; Edelson, Catherine ; Goldenberg, Alice ; Duncombe, Alice ; Le Meur, Gylène ; Hamel, Christian ; Silva, Eduardo ; Nitschke, Patrick ; Calvas, Patrick ; Munnich, Arnold ; Roche, Olivier ; Dollfus, Hélène ; Kaplan, Josseline ; Rozet, Jean-Michel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-09, Vol.44 (9), p.975-977
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ArticlesPeer ReviewedFull Text
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
Author / Creator:Mamoune, Asmaa ; Bahuau, Michel ; Hamel, Yamina ; Serre, Valérie ; Pelosi, Michele ; Habarou, Florence ; Nguyen Morel, Marie-Ange ; Boisson, Bertrand ; Vergnaud, Sabrina ; Viou, Mai Thao ; Nonnenmacher, Luc ; Piraud, Monique ; Nusbaum, Patrick ; Vamecq, Joseph ; Romero, Norma ; Ottolenghi, Chris ; Casanova, Jean-Laurent ; de Lonlay, Pascale
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-11, Vol.10 (11), p.e1004711
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ArticlesPeer ReviewedFull Text
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Author / Creator:Rouzier, Cécile ; Chaussenot, Annabelle ; Serre, Valérie ; Fragaki, Konstantina ; Bannwarth, Sylvie ; Ait-El-Mkadem, Samira ; Attarian, Shahram ; Kaphan, Elsa ; Cano, Aline ; Delmont, Emilien ; Sacconi, Sabrina ; de Camaret, Bénédicte Mousson ; Rio, Marlène ; Lebre, Anne-Sophie ; Jardel, Claude ; Deschamps, Romain ; Richelme, Christian ; Pouget, Jean ; Chabrol, Brigitte ; Paquis-Flucklinger, Véronique
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.542-550
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ArticlesPeer ReviewedFull Text
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
Author / Creator:Geneviève, David ; Proulle, Valérie ; Isidor, Bertrand ; Bellais, Samuel ; Serre, Valérie ; Djouadi, Fatima ; Picard, Capucine ; Vignon-Savoye, Capucine ; Bader-Meunier, Brigitte ; Blanche, Stéphane ; de Vernejoul, Marie-Christine ; Legeai-Mallet, Laurence ; Fischer, Anne-Marie ; Le Merrer, Martine ; Dreyfus, Marie ; Gaussem, Pascale ; Munnich, Arnold ; Cormier-Daire, Valérie
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-03, Vol.40 (3), p.284-286
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ArticlesPeer ReviewedFull Text
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
Author / Creator:Barth, Magalie ; Ottolenghi, Chris ; Hubert, Laurence ; Chrétien, Dominique ; Serre, Valérie ; Gobin, Stéphanie ; Romano, Stéphane ; Vassault, Anne ; Sefiani, Aziz ; Ricquier, Daniel ; Boddaert, Nathalie ; Brivet, Michèle ; de Keyzer, Yves ; Munnich, Arnold ; Duran, Marinus ; Rabier, Daniel ; Valayannopoulos, Vassili ; de Lonlay, Pascale
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.443-453
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ArticlesPeer ReviewedFull Text
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
Author / Creator:Thomas, Sophie ; Cantagrel, Vincent ; Mariani, Laura ; Serre, Valérie ; Lee, Ji-Eun ; Elkhartoufi, Nadia ; de Lonlay, Pascale ; Desguerre, Isabelle ; Munnich, Arnold ; Boddaert, Nathalie ; Lyonnet, Stanislas ; Vekemans, Michel ; Lisgo, Steven N ; Caspary, Tamara ; Gleeson, Joseph ; Attié-Bitach, Tania
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.621-627
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ArticlesPeer ReviewedFull Text
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia: e1004711
Author / Creator:Mamoune, Asmaa ; Bahuau, Michel ; Hamel, Yamina ; Serre, Valérie ; Pelosi, Michele ; Habarou, Florence ; Morel, Marie-Ange Nguyen ; Boisson, Bertrand ; Vergnaud, Sabrina ; Viou, Mai Thao ; Nonnenmacher, Luc ; Piraud, Monique ; Nusbaum, Patrick ; Vamecq, Joseph ; Romero, Norma ; Ottolenghi, Chris ; Casanova, Jean-Laurent ; Lonlay, Pascale de
Publisher:San Francisco: Public Library of Science
Journal title:PLoS genetics, 2014-11, Vol.10 (11)
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ArticlesPeer ReviewedFull Text
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
Author / Creator:Rouzier, C ; Le Guédard-Méreuze, S ; Fragaki, K ; Serre, V ; Miro, J ; Tuffery-Giraud, S ; Chaussenot, A ; Bannwarth, S ; Caruba, C ; Ostergaard, E ; Pellissier, J-F ; Richelme, C ; Espil, C ; Chabrol, B ; Paquis-Flucklinger, V
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-10, Vol.47 (10), p.670-676
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ArticlesPeer ReviewedFull Text
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Author / Creator:BOURDON, Alice ; MINAI, Limor ; NAKAMURA, Yusuke ; MUNNICH, Arnold ; RÖTIG, Agnès ; SERRE, Valérie ; JAIS, Jean-Philippe ; SARZI, Emmanuelle ; AUBERT, Sophie ; CHRETIEN, Dominique ; DE LONLAY, Pascale ; PAQUIS-FLUCKLINGER, Véronique ; ARAKAWA, Hirofumi
Publisher:London: Nature Publishing Group
Journal title:Nature genetics, 2007, Vol.39 (6), p.778-782
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Catalogue général des livres imprimés de la Bibliothèque nationale. Auteurs / Bibliothèque nationale.

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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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NDUFS6 related Leigh syndrome: a case report and review of the literature

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

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A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

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Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

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A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia: e1004711

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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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