Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Leila Lazaro"'
Autor:
Tiffany Busa, Anaïs Brassier, Agathe Roubertie, Bénédicte Héron, M. Tardieu, Stéphane Marret, Roseline Froissart, Martine Doco-Fenzy, Céline Poirsier, Stéphanie Torre, Serge Rivera, Ivana Dabaj, Sabrina Vergnaud, Julien Baruteau, Marta Spodenkiewicz, Jean-Baptiste Arnoux, Bénédicte Sudrié-Arnaud, Brigitte Chabrol, Abdellah Tebani, Solaf M. Elsayed, Catherine Vanhulle, Sarah Snanoudj, Anne-Claire Brehin, Pascale Saugier-Veber, Aline Cano, Hélène Dranguet, Thierry Levade, Alice Goldenberg, Samia Pichard, Alice Kuster, Catherine Caillaud, Majed Al Khouri, Yves Alembik, Stéphanie Roggerone, Isabelle Desguerre, Nursel Elcioglu, François Labarthe, Sophie Coutant, Philippe Jouvencel, Bernard Drenou, Sandrine Roche, Laur Domitille, Alain Fouilhoux, Sabine Sigaudy, Christine Coubes, Soumeya Bekri, Leila Lazaro
Publikováno v:
Journal of Medical Genetics. 59:377-384
IntroductionThis study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).MethodsClinical and genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62616e04708166070973bed70796eea
https://doi.org/10.1136/jmedgenet-2020-107510
https://doi.org/10.1136/jmedgenet-2020-107510
Autor:
Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babfbeb68f31ca6afb2b34ab5e5a2e4e
https://hal.archives-ouvertes.fr/hal-03282716
https://hal.archives-ouvertes.fr/hal-03282716
Autor:
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 212
Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected, structural variations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c8c3e0e826ba33305a87647b440d32
https://doi.org/10.3390/jpm12020212
https://doi.org/10.3390/jpm12020212
Autor:
Stéphane Chabrier, Emeline Peyric, Laure Drutel, Johanna Deron, Manoëlle Kossorotoff, Mickaël Dinomais, Leila Lazaro, Jérémie Lefranc, Guillaume Thébault, Gérard Dray, Joel Fluss, Cyrille Renaud, Sylvie Nguyen The Tich, Stéphane Darteyre, Céline Dégano, Matthieu Delion, Samuel Groeschel, Lucie Hertz-Pannier, Béatrice Husson, Emilie Presles, Magaly Ravel, Carole Vuillerot
Publikováno v:
The Journal of Pediatrics
The Journal of Pediatrics, 2016, 172, pp.156-161.e3. ⟨10.1016/j.jpeds.2016.01.069⟩
Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2016, 172, pp.156-161.e3. ⟨10.1016/j.jpeds.2016.01.069⟩
The Journal of Pediatrics, Vol. 172 (2016) pp. 156-161.e3
The Journal of Pediatrics, 2016, 172, pp.156-161.e3. ⟨10.1016/j.jpeds.2016.01.069⟩
Journal of Pediatrics
Journal of Pediatrics, Elsevier, 2016, 172, pp.156-161.e3. ⟨10.1016/j.jpeds.2016.01.069⟩
The Journal of Pediatrics, Vol. 172 (2016) pp. 156-161.e3
Objectives To evaluate the epileptic, academic, and developmental status at age 7 years in a large population of term-born children who sustained neonatal arterial ischemic stroke (NAIS), and to assess the co-occurrence of these outcomes. Study desig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::298de0876d4139827318f1b2e84366c7
https://hal.science/hal-02099375
https://hal.science/hal-02099375
Autor:
Benedicte Pontier, Mathieu Milh, Stéphanie Arpin, Thierry Bienvenu, Delphine Héron, Mathilde Nizon, Camille Maillard, Bertrand Isidor, Sylvie Odent, Christophe Philippe, Marie-Aude Spitz, Barth Magalie, Tally Lerman-Sagie, Baptiste Troude, Stéphane Rondeau, Eric Haan, Jean Michel Pedespan, Anne Marie Guerrot, Elise Schaefer, Sabrina Wagner, Nadia Bahi-Buisson, Isabelle Caubel, Caroline Michot, Nathalie Boddaert, Stéphanie Valence, Joseph Toulouse, Benjamin Cogné, Marie Hully, Alexandre N. Datta, Mara Cavallin, Cyril Mignot, Amandine Bery, Leila Lazaro, Marie Vincent, François Rivier, Sébastien Moutton, Alice Masurel, Dorit Lev, Nancy Vegas
Publikováno v:
Neurology Genetics
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Neurology Genetics, American Academy of Neurology, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Neurology Genetics, American Academy of Neurology, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
ObjectiveTo provide new insights into theFOXG1-related clinical and imaging phenotypes and refine the phenotype-genotype correlation inFOXG1syndrome.MethodsWe analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b892746aca75342a079ef289ede1823
https://doi.org/10.1212/nxg.0000000000000281
https://doi.org/10.1212/nxg.0000000000000281
Autor:
Karolina, Hankiewicz, Robert Y, Carlier, Leila, Lazaro, Javier, Linzoain, Christine, Barnerias, David, Gómez-Andrés, Daniela, Avila-Smirnow, Ana, Ferreiro, Brigitte, Estournet, Pascale, Guicheney, Dominique P, Germain, Pascale, Richard, Sebastian, Bulacio, Dominique, Mompoint, Susana, Quijano-Roy
Publikováno v:
Musclenerve. 52(5)
The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1-RM).Whole-body magnetic resonance imaging (WBMRI) was used in 9 patients using T1-weighted turbo spin-echo (T1-TSE)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85344f47f006788a1b20e3f679949e5d
https://pubmed.ncbi.nlm.nih.gov/25808192
https://pubmed.ncbi.nlm.nih.gov/25808192
Autor:
Véronique David, Marie-Renée Durou, Christèle Dubourg, Sylvie Odent, Franck Le Duff, Leila Lazaro, Laurent Pasquier, Céline Aguilella, Armelle de la Pintière, Martine Blayau
Publikováno v:
American Journal of Medical Genetics Part A. :21-24
Since 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases. All aff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d1e7e88bcd3f6f576e71995bff31996
https://doi.org/10.1002/ajmg.a.30110
https://doi.org/10.1002/ajmg.a.30110
Autor:
Laurent Pasquier, Véronique David, Martine Blayau, Céline Aguilella, Sylvie Odent, Christèle Dubourg, Leila Lazaro, Jocelyne Attia-Sobol, Jacqueline Vigneron
Publikováno v:
Human Genetics. 112:131-134
Holoprosencephaly (HPE) is the most common severe brain anomaly in humans, which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, TGIF ( TG-interactin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4765825868a676443b486a5e5fa0a2f6
https://doi.org/10.1007/s00439-002-0862-8
https://doi.org/10.1007/s00439-002-0862-8
Autor:
Martine Blayau, Leila Lazaro, C Dubourg, Véronique David, Laurent Pasquier, Sylvie Odent, B. Le Marec
Publikováno v:
European Journal of Human Genetics. 8:797-800
Holoprosencephaly (HPE) is a severe brain malformation which results from incomplete cleavage of the forebrain during early embryogenesis. The aetiology of HPE is very heterogeneous. Among the genetic factors, SIX3, which is considered to be the func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c815bf6ca57c94dbd41afde5a995e3c8
https://doi.org/10.1038/sj.ejhg.5200540
https://doi.org/10.1038/sj.ejhg.5200540
Publikováno v:
Archives de Pédiatrie. 15:705-707
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f31512a930dd2b8382f13cc4c720dd90
https://doi.org/10.1016/s0929-693x(08)71882-7
https://doi.org/10.1016/s0929-693x(08)71882-7