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Developmental patterns of fetal fat and corresponding signal on T1-weighted magnetic resonance imaging.
Published in:
2018
By:
- Blondiaux, Eléonore;
- Chougar, Lydia;
- Ducou le Pointe, Hubert;
- Garel, Catherine;
- Gelot, Antoinette;
- Valence, Stéphanie;
- Audureau, Etienne;
- Jouannic, Jean-Marie;
- Dhombres, Ferdinand
Publication type:
journal article
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases.
Published in:
2019
By:
- Blondiaux, Eléonore;
- Valence, Stéphanie;
- Friszer, Stéphanie;
- Rodriguez, Diana;
- Burglen, Lydie;
- Ducou le Pointe, Hubert;
- Blouet, Marie;
- Garel, Catherine
Publication type:
Case Study
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 4, p. 381, doi. 10.1038/ejhg.2012.195
By:
- Poirier, Karine;
- Saillour, Yoann;
- Fourniol, Franck;
- Francis, Fiona;
- Souville, Isabelle;
- Valence, Stéphanie;
- Desguerre, Isabelle;
- Marie Lepage, Jean;
- Boddaert, Nathalie;
- Line Jacquemont, Marine;
- Beldjord, Cherif;
- Chelly, Jamel;
- Bahi-Buisson, Nadia
Publication type:
Article
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1676, doi. 10.1093/brain/awu082
By:
- Bahi-Buisson, Nadia;
- Poirier, Karine;
- Fourniol, Franck;
- Saillour, Yoann;
- Valence, Stéphanie;
- Lebrun, Nicolas;
- Hully, Marie;
- Bianco, Catherine Fallet;
- Boddaert, Nathalie;
- Elie, Caroline;
- Lascelles, Karine;
- Souville, Isabelle;
- Beldjord, Cherif;
- Chelly, Jamel
Publication type:
Article
Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome.
Published in:
Birth Defects Research, 2022, v. 114, n. 19, p. 1298, doi. 10.1002/bdr2.2100
By:
- Vekemans, Marie‐Aricie;
- Maurice, Paul;
- Lachtar, Mohamed;
- Blondiaux, Eléonore;
- Jouannic, Jean‐Marie;
- Burglen, Lydie;
- Rodriguez, Diana;
- Garel, Catherine;
- Valence, Stéphanie
Publication type:
Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696
By:
- Desprairies, Camille;
- Valence, Stéphanie;
- Maurey, Hélène;
- Helal, Suzette I.;
- Weckhuysen, Sarah;
- Soliman, Hala;
- Mefford, Heather C.;
- Spentchian, Myrtille;
- Héron, Delphine;
- Leguern, Eric;
- Nava, Caroline;
- Bouilleret, Viviane;
- Moretti, Raffaella;
- Mignot, Cyril
Publication type:
Article
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 1, p. 35, doi. 10.1002/pd.6495
By:
- Jaillard, Alienor;
- Valence, Stéphanie;
- Vande Perre, Saskia;
- Dhombres, Ferdinand;
- Héron, Delphine;
- Billette de Villemeur, Thierry;
- Keren, Boris;
- Afenjar, Alexandra;
- Qebibo, Leila;
- Harion, Madeleine;
- Quenum‐Miraillet, Geneviève;
- Rodriguez, Diana;
- Jouannic, Jean‐Marie;
- Burglen, Lydie;
- Garel, Catherine
Publication type:
Article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 6, p. 746, doi. 10.1002/pd.6382
By:
- Nguyen, Toan;
- Heide, Solveig;
- Guilbaud, Lucie;
- Valence, Stéphanie;
- Perre, Saskia Vande;
- Blondiaux, Eléonore;
- Keren, Boris;
- Quenum‐Miraillet, Geneviève;
- Jouannic, Jean‐Marie;
- Mandelbrot, Laurent;
- Picone, Olivier;
- Guet, Agnès;
- Tsatsaris, Vassilis;
- Milh, Mathieu;
- Girard, Nadine;
- Vincent, Marie;
- Nizon, Mathilde;
- Poirsier, Céline;
- Vivanti, Alexandre;
- Benachi, Alexandra
Publication type:
Article
Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773
By:
- Fiévet, Alice;
- Bellanger, Dorine;
- Valence, Stéphanie;
- Mobuchon, Lenha;
- Afenjar, Alexandra;
- Giuliano, Fabienne;
- Dubois d'Enghien, Catherine;
- Parfait, Béatrice;
- Pedespan, Jean‐Michel;
- Auger, Nathalie;
- Rieunier, Guillaume;
- Collet, Agnès;
- Burglen, Lydie;
- Stoppa‐Lyonnet, Dominique;
- Stern, Marc‐Henri
Publication type:
Article
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
Published in:
Pediatric Radiology, 2023, v. 53, n. 3, p. 461, doi. 10.1007/s00247-022-05531-3
By:
- Chanclud, Justine;
- Valence, Stéphanie;
- Perre, Saskia Vande;
- Guilbaud, Lucie;
- Moutard, Marie-Laure;
- Jouannic, Jean-Marie;
- Ducou Le Pointe, Hubert;
- Blondiaux, Eléonore;
- Garel, Catherine
Publication type:
Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Published in:
Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
By:
- Valence, Stéphanie;
- Poirier, Karine;
- Lebrun, Nicolas;
- Saillour, Yoann;
- Sonigo, Pascale;
- Bessières, Bettina;
- Attié-Bitach, Tania;
- Benachi, Alexandra;
- Masson, Cécile;
- Encha-Razavi, Ferechté;
- Chelly, Jamel;
- Bahi-Buisson, Nadia
Publication type:
Article

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