Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Stéphanie, Valence"'
Autor:
Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Publikováno v:
eLife, Vol 12 (2023)
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic ence
Externí odkaz:
https://doaj.org/article/40dfdc180e96470192bccc762e052743
Autor:
Justine Chanclud, Stéphanie Valence, Saskia Vande Perre, Lucie Guilbaud, Marie-Laure Moutard, Jean-Marie Jouannic, Hubert Ducou Le Pointe, Eléonore Blondiaux, Catherine Garel
Publikováno v:
Pediatric Radiology. 53:461-469
Prenatal diagnoses of cystic malformations of the posterior fossa mainly encompass arachnoid cysts, Blake's pouch cysts and Dandy-Walker syndrome. To date, vermian cysts have not been reported prenatally.To report a series of fetuses with a vermian c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4685b9cd8d9013231feab7d5e49cfef
https://doi.org/10.1007/s00247-022-05531-3
https://doi.org/10.1007/s00247-022-05531-3
Autor:
Marie‐Aricie Vekemans, Paul Maurice, Mohamed Lachtar, Eléonore Blondiaux, Jean‐Marie Jouannic, Lydie Burglen, Diana Rodriguez, Catherine Garel, Stéphanie Valence
Publikováno v:
Birth Defects Research. 114:1298-1306
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd5b8758440a2230c74bdb90bed19b7a
https://doi.org/10.1002/bdr2.2100
https://doi.org/10.1002/bdr2.2100
Autor:
Toan Nguyen, Solveig Heide, Lucie Guilbaud, Stéphanie Valence, Saskia Vande Perre, Eléonore Blondiaux, Boris Keren, Geneviève Quenum‐Miraillet, Jean‐Marie Jouannic, Laurent Mandelbrot, Olivier Picone, Agnès Guet, Vassilis Tsatsaris, Mathieu Milh, Nadine Girard, Marie Vincent, Mathilde Nizon, Céline Poirsier, Alexandre Vivanti, Alexandra Benachi, Vincent des Portes, Laurent Guibaud, Olivier Patat, Myrtille Spentchian, Lisa Frugère, Delphine Héron, Catherine Garel
Publikováno v:
Prenatal Diagnosis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::876be7b2c3bbbef9597e30e221c936f8
https://doi.org/10.1002/pd.6382
https://doi.org/10.1002/pd.6382
Autor:
Evelien Van Hoeymissen, Lydie Burglen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Publikováno v:
eLife. 12
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic ence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42e2c95cd587f0963c7438e9615df07
https://doi.org/10.7554/elife.81032
https://doi.org/10.7554/elife.81032
Autor:
Evelien Van Hoeymissen, Lydie Burglen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a93e755ca5d72fe220f290e73c236e
https://doi.org/10.7554/elife.81032.sa2
https://doi.org/10.7554/elife.81032.sa2
Autor:
Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩
PurposeIn this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes,CC2D2A.MethodsWe selected 53 patients with pathogenic v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd9d723f406e4699bfc181bb3ad558d
https://hal.science/hal-03837222/document
https://hal.science/hal-03837222/document
Autor:
Madeleine, Harion, Leila, Qebibo, Audrey, Riquet, Christelle, Rougeot, Alexandra, Afenjar, Catherine, Garel, Malek, Louha, Emmanuelle, Lacaze, Frédérique, Audic-Gérard, Magali, Barth, Patrick, Berquin, Dominique, Bonneau, Frédéric, Bourdain, Tiffany, Busa, Estelle, Colin, Jean-Marie, Cuisset, Vincent, Des Portes, Nathalie, Dorison, Christine, Francannet, Bénédicte, Héron, Cécile, Laroche, Marine, Lebrun, Julia, Métreau, Sylvie, Odent, Laurent, Pasquier, Yaumara Perdomo, Trujillo, Laurine, Perrin, Lucile, Pinson, François, Rivier, Sabine, Sigaudy, Christel, Thauvin-Robinet, Ulrike Walther, Louvier, Olivier, Labayle, Diana, Rodriguez, Stéphanie, Valence, Lydie, Burglen
Publikováno v:
Journal of medical genetics.
In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes,We selected 53 patients with pathogenic variants onDevelopment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c1b850603130caa7309c09f8580aeff
https://pubmed.ncbi.nlm.nih.gov/36319078
https://pubmed.ncbi.nlm.nih.gov/36319078
Autor:
Guillaume Aubertin, Chiara Sileo, Diana Rodriguez, Harriet Corvol, Stéphanie Valence, Nicole Beydon, Jessica Taytard, Plamen Bokov
Publikováno v:
Journal of Clinical Sleep Medicine
Journal of Clinical Sleep Medicine, American Academy of Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩
J Clin Sleep Med
Journal of Clinical Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩
Journal of Clinical Sleep Medicine, American Academy of Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩
J Clin Sleep Med
Journal of Clinical Sleep Medicine, 2020, 16 (12), pp.2113-2116. ⟨10.5664/jcsm.8784⟩
We report the case of a female patient aged 12 years referred to our pediatric sleep unit with a history of central sleep apnea associated with transient episodes of tachypnea on polysomnography recordings. The patient was otherwise healthy, with no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed079b53f30f17963b0b08aa4701a972
https://doi.org/10.5664/jcsm.8784
https://doi.org/10.5664/jcsm.8784
Autor:
Marta Massimello, Delphine Héron, Tania Attié-Bitach, Myrtille Spentchian, Anne Faudet, Marie-Amélie Rocchisanni, Laurent Mandelbrot, Alexandra Benachi, Julien Saada, Florence Bretelle, Stéphanie Friszer, Paul Maurice, Catherine Garel, Julien Buratti, Mathilde Nizon, Valérie Layet, Jean-Marie Jouannic, Thierry Billette de Villemeur, Corinne Mach, Mathieu Milh, Lucie Guilbaud, Stéphanie Valence, Agnès Guët, Genevieve Quenum‐Miraillet, Sébastien Moutton, Rodolphe Dard, Sandra Chantot-Bastaraud, Valérie Olin, Magali Gorce, Daphné Lehalle, Marta Spodenkiewic, Marie-Laure Moutard, Linda Mouthon, Solveig Heide, Elodie Lejeune, Vassili Tsatsaris, Claire Beneteau, Marie Vincent, Laurent Guibaud, Sandra Whalen, Cyril Mignot, Vincent des Portes, Eléonore Blondiaux, Mathilde Lefebvre, Audrey Putoux, Boris Keren
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
International audience; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnosti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0322356e1f172baed1f1a77a7d76a05
https://doi.org/10.1038/s41436-020-0872-8
https://doi.org/10.1038/s41436-020-0872-8