Ngā hua rapu - Christine Francannet

Whakamahine hua
  1. 1
    Genotype-phenotype correlation in hereditary multiple exostoses

    Genotype-phenotype correlation in hereditary multiple exostoses mā Christine Francannet

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    TP63 gene mutation in ADULT syndrome

    TP63 gene mutation in ADULT syndrome mā Jeanne Amiel, Gaëlle Bougeard, Christine Francannet, Valérie Raclin, Arnold Münnich, Stanislas Lyonnet, Thierry Frébourg

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

    Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females mā Christophe Philippe, D. Amsallem, Christine Francannet, Laëtitia Lambert, Aline Saunier, F. Verneau, Philippe Jonveaux

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Occupational exposure to organic solvent mixtures during pregnancy and the risk of non-syndromic oral clefts

    Occupational exposure to organic solvent mixtures during pregnancy and the risk of non-syndromic oral clefts mā Cécile Chevrier, Brigitte Dananché, Michel Bahuau, Agnès Nelva, C Herman, Christine Francannet, Elisabeth Robert‐Gnansia, Sylvaine Cordier

    I whakaputaina 2006
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous<i>ATR</i>Mutations

    Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous<i>ATR</i>Mutations mā Houda Benhelli‐Mokrani, Laetitia Gaillard, Patricia Biasutto, Tangui Le Guen, Fabien Touzot, Nadia Vasquez, Jun Komatsu, Emmanuel Conseiller, Capucine Pïcard, Éliane Gluckman, Christine Francannet, Alain Fischer, Anne Durandy, Jean Soulier, Jean‐Pierre de Villartay, Marina Cavazzana, Patrick Revy

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia mā Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness mā Véronique Pingault, Virginie Bodereau, Viviane Baral, Séverine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, O. Vérier‐Mine, Christine Francannet, Delphine Dupin‐Deguine, F. Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean‐Pierre Hardelin, Catherine Dodé, Nadège Bondurand

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A mā Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

    Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families mā Geneviève Baujat, Céline Huber, Joyce El Hokayem, Roseline Caumes, Claire Do Ngoc Thanh, Albert David, Anne‐Lise Delezoide, Anne Dieux‐Coëslier, B. Estournet, Christine Francannet, Honorine Kayirangwa, Florence Lacaille, M. Le Bourgeois, Jéléna Martinovic, Rémi Salomon, Sabine Sigaudy, Valérie Malan, Arnold Münnich, Martine Le Merrer, Kim‐Hanh Le Quan Sang, Valérie Cormier‐Daire

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families mā Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse, Julie De Backer, Koenraad Devriendt, Bruno Albrecht, María A. Ramos-Arroyo, M. Doco‐Fenzy, R Hennekam, Reed E. Pyeritz, O.N. Krogmann, Gabrielle Gillessen-Kaesbach, Emma Wakeling, Serena Nik‐Zainal, Christine Francannet, P. Mauran, C. Booth, Margaret Barrow, R. Dekens, Bart Loeys, Paul Coucke, Anne M. De Paepe

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip mā M. Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau, Sylvain Baulande, Denis Pierron, Didier Lacombe, F Duriez, Christine Francannet, T. Mom, Hubert Journel, Hélène Catros, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Hélène Dollfus, Marie‐Madeleine Eliot, Laurence Faivre, C. Duvillard, Rémy Couderc, Éréa-Noël Garabédian, Christine Petit, Delphine Feldmann, Françoise Denoyelle

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Comparison of Clinical Presentations and Outcomes Between Patients With <i>TGFBR2</i> and <i>FBN1</i> Mutations in Marfan Syndrome and Related Disorders

    Comparison of Clinical Presentations and Outcomes Between Patients With <i>TGFBR2</i> and <i>FBN1</i> Mutations in Marfan Syndrome and Related Disorders mā David Attias, Chantal Stheneur, Carine Roy, Gwenaëlle Collod‐Béroud, Delphine Détaint, Laurence Faivre, Marie‐Ange Delrue, Laurence Cohen, Christine Francannet, Christophe Béroud, Mireille Claustres, Franck Iserin, Philippe Khau Van Kien, Didier Lacombe, Martine Le Merrer, Stanislas Lyonnet, Sylvie Odent, Henri Plauchu, Marlène Rio, Annick Rossi, Daniel Sidi, Philippe Gabríel Steg, Philippe Ravaud, Cathérine Boileau, Guillaume Jondeau

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations mā Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, N. Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, F Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Éréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease mā Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome mā Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie‐Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzalès, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie‐Christine Dauge, J. Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Ménez, A. M. Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Münnich, Stanislas Lyonnet, Marie‐Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants

    Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants mā Tristan T. Sands, Francesco Miceli, Gaëtan Lesca, Anita Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf‐Greulich, Sébastien Moutton, Anna Lauritano, Piera Nappi, Maria Virginia Soldovieri, Ingrid E. Scheffer, Heather C. Mefford, Nicholas Stong, Erin L. Heinzen, David B. Goldstein, Ana Grijalvo Perez, Eric H. Kossoff, Amber Stocco, Jennifer A. Sullivan, Vandana Shashi, Bénédicte Gérard, Christine Francannet, Anne‐Marie Bisgaard, Zeynep Tümer, Marjolaine Willems, François Rivier, Antonio Vitobello, Kavita Thakkar, Deepa Rajan, A. James Barkovich, Sarah Weckhuysen, Edward C. Cooper, Maurizio Taglialatela, Maria Roberta Cilio

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis mā Crystel Bonnet, M’hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, M. Parodi, Magali Niasme-Grare, Diana Zélénika, Marc Delépine, Delphine Feldmann, Laurence Jonard, A. Amraoui, Dominique Weil, Bruno Delobel, C. Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Jacqueline Vigneron, B. Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, T. Mom, Didier Lacombe, F Duriez, Valérie Drouin‐Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José‐Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands mā Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

    Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing mā Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel‐Paulet, Marjolaine Willems, Gaëtan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie‐Ange Delrue, Valérie Drouin‐Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu‐Dramard, Dominique Martin–Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin‐Robinet, Julien Thévenon, Martine Doco‐Fenzy, David Geneviève, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean‐Louis Mandel, Amélie Piton

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

    Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome mā Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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