Rezultati pretrage - Florence Petit

Detaljiziraj rezultate
  1. 1
    A novel action of follicle-stimulating hormone in the ovary promotes estradiol production without inducing excessive follicular growth before puberty

    A novel action of follicle-stimulating hormone in the ovary promotes estradiol production without inducing excessive follicular growth before puberty od Charlotte M. François, Florence Petit, Frank Giton, Alain Gougeon, Célia Ravel, Solange Magre, Joëlle Cohen-Tannoudji, Céline J. Guigon

    Izdano 2017
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  2. 2
    FSH inhibits AMH to support ovarian estradiol synthesis in infantile mice

    FSH inhibits AMH to support ovarian estradiol synthesis in infantile mice od Marie M. Devillers, Florence Petit, Victoria Cluzet, Charlotte M. François, Frank Giton, Ghislaine Garrel, Joëlle Cohen-Tannoudji, Céline J. Guigon

    Izdano 2018
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  3. 3
    Diabetes is a risk factor for knee osteoarthritis progression

    Diabetes is a risk factor for knee osteoarthritis progression od Florent Eymard, Camille Parsons, Mark H. Edwards, Florence Petit-Dop, Jean‐Yves Reginster, Olivier Bruyère, Pascal Richette, Cyrus Cooper, Xavier Chevalier

    Izdano 2015
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  4. 4
    Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

    Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix od Sarah Delbaere, Tibbe Dhooge, Delfien Syx, Florence Petit, Nathalie Goemans, Anne Destrèe, Olivier Vanakker, Riet De Rycke, Sofie Symoens, Fransiska Malfait

    Izdano 2019
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  5. 5
    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity od Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, Anne‐Sophie Jourdain, José Guerra, Anne Dieux‐Coëslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier‐Hanu, Fabienne Escande

    Izdano 2015
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  6. 6
    Multi-classifier prediction of knee osteoarthritis progression from incomplete imbalanced longitudinal data

    Multi-classifier prediction of knee osteoarthritis progression from incomplete imbalanced longitudinal data od Paweł Widera, Paco M J Welsing, C. Ladel, John Loughlin, Floris P. F. J. Lafeber, Florence Petit Dop, Jonathan Larkin, Harrie Weinans, Ali Mobasheri, Jaume Bacardit

    Izdano 2020
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  7. 7
    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome od Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire

    Izdano 2014
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  8. 8
    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants od Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, Frédéric Frénois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier‐Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier‐Hanu, Florence Petit

    Izdano 2018
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  9. 9
    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS od Matthieu Gratia, Mathieu P. Rodero, Cécile Conrad, Elias Bou Samra, Mathieu Maurin, Gillian Rice, Darragh Duffy, Patrick Revy, Florence Petit, Russell C. Dale, Yanick J. Crow, Mounira Amor-Guéret, Nicolas Manel

    Izdano 2019
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  10. 10
    Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

    Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia od Aki Ushiki, Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane, Kirsty Jamieson, Michael J. Bamshad, Deborah A. Nickerson, Yin Shen, Laura A. Lettice, Elizabeth Lemos Silveira, Florence Petit, Nadav Ahituv

    Izdano 2021
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  11. 11
    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome od Christopher T. Gordon, Christopher Cunniff, Glenn E. Green, Roseli Maria Zechi‐Ceide, Jason M. Johnson, Alex Henderson, Florence Petit, Nancy Mizue Kokitsu‐Nakata, Maria Leine Guion‐Almeida, Arnold Münnich, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    Izdano 2014
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  12. 12
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis od Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

    Izdano 2016
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  13. 13
    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes od Claire Redin, Stéphanie Le Gras, O. M'hamdi, Véronique Geoffroy, Corinne Stoetzel, Marie‐Claire Vincent, Pietro Chiurazzi, Didier Lacombe, Inès Ouertani, Florence Petit, Marianne Till, Alain Verloès, Bernard Jost, Habiba Chaâbouni, Hélène Dollfus, Jean‐Louis Mandel, Jean Muller

    Izdano 2012
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  14. 14
    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 od Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Frédéric Frénois, S. Lejeune-Dumoulin, Marie‐Pierre Alex‐Cordier, Marine Lebrun, P. Guerreschi, V. Duquennoy-Martinot, Matthieu Vinchon, Joël Ferri, Matthieu Jung, Serge Vicaire, Clémence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier‐Hanu

    Izdano 2017
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  15. 15
    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations od Gabriela Jones, Pia Østergaard, Anthony T. Moore, Fiona Connell, Denise Williams, Oliver Quarrell, Angela F. Brady, Isabel Spier, Fılız Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A. Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter Mortimer, Pradeep Vasudevan, Sahar Mansour

    Izdano 2013
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  16. 16
    Age-related pathological impairments in directly reprogrammed dopaminergic neurons derived from patients with idiopathic Parkinson’s disease

    Age-related pathological impairments in directly reprogrammed dopaminergic neurons derived from patients with idiopathic Parkinson’s disease od Janelle Drouin‐Ouellet, Emilie M. Legault, Fredrik Nilsson, Karolina Pircs, Julie Bouquety, Florence Petit, Shelby Shrigley, Marcella Birtele, Maria Pereira, Petter Storm, Yogita Sharma, Andreas Bruzelius, Romina Vuono, Malin Kele, Thomas B. Stoker, Daniella Rylander Ottosson, Anna Falk, Johan Jakobsson, Roger A. Barker, Malin Parmar

    Izdano 2022
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  17. 17
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient od Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Izdano 2012
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  18. 18
    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification od Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus A. Bok, Lance H. Rodan, Ingrid P.C. Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Çırak

    Izdano 2020
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  19. 19
    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib od G Morin, C. Degrugillier-Chopinet, Marie Vincent, Antoine Fraissenon, H. Aubert, Célia Chapelle, Clément Hoguin, François Dubos, B. Catteau, Florence Petit, Aurélie Mezel, Olivia Domanski, Guillaume Herbreteau, Marie Alesandrini, Nathalie Boddaert, Nathalie Boutry, Christine Broissand, Tianxiang Han, Fabrice Branle, Sabine Sarnacki, Thomas Blanc, Laurent Guibaud, Guillaume Canaud

    Izdano 2022
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  20. 20
    <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

    <i>AP2M1</i> Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions od Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M.A. Verhagen, Alexander A.L. Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Emilio A. Martı́nez, Anne O’Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, David S. Francis, Natasha J. Brown

    Izdano 2025
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