Výsledky vyhledávání - Florence Petit

Upřesnit hledání
  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 Autor Charlotte M. François, Florence Petit, Frank Giton, Alain Gougeon, Célia Ravel, Solange Magre, Joëlle Cohen-Tannoudji, Céline J. Guigon

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    FSH inhibits AMH to support ovarian estradiol synthesis in infantile mice

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

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Diabetes is a risk factor for knee osteoarthritis progression

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

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor Sarah Delbaere, Tibbe Dhooge, Delfien Syx, Florence Petit, Nathalie Goemans, Anne Destrèe, Olivier Vanakker, Riet De Rycke, Sofie Symoens, Fransiska Malfait

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, Anne‐Sophie Jourdain, José Guerra, Anne Dieux‐Coëslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier‐Hanu, Fabienne Escande

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS Autor 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

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2021
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome Autor 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

    Vydáno 2014
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2013
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  19. 19
    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib Autor 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

    Vydáno 2022
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  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 Autor 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

    Vydáno 2025
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: