检索结果 - André Mégarbané

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  1. 1
    Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

    Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome 由 Hala Mégarbané, André Mégarbané

    出版 2011
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  2. 2
    Relationship between Vitamin D Receptor Gene Polymorphisms, Cardiovascular Risk Factors and Adiponectin in a Healthy Young Population

    Relationship between Vitamin D Receptor Gene Polymorphisms, Cardiovascular Risk Factors and Adiponectin in a Healthy Young Population 由 Aline Hajj, Rima Chédid, Éliane Chouery, André Mégarbané, Marie‐Hélène Gannagé‐Yared

    出版 2016
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  3. 3
    Mutations in<i>TREM2</i>lead to pure early-onset dementia without bone cysts

    Mutations in<i>TREM2</i>lead to pure early-onset dementia without bone cysts 由 Éliane Chouery, Valérie Delague, Anne Bergougnoux, Salam Koussa, Jean‐Louis Serre, André Mégarbané

    出版 2008
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  4. 4
    X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3

    X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3 由 André Mégarbané, Nabiha Salem, Edouard Stéphan, Ramzi Ashoush, Didier Lenoir, Valérie Delague, Roland Kassab, Jacques Loiselet, Patrice Bouvagnet

    出版 2000
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  5. 5
    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability 由 Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Éliane Chouery

    出版 2015
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  6. 6
    Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

    Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 由 Caroline Lefèvre, B. Bouadjar, Véronique Ferrand, Gianluca Tadini, André Mégarbané, Mark Lathrop, Jean‐François Prud'homme, Judith Fischer

    出版 2006
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  7. 7
    The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome

    The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome 由 André Mégarbané, Aimé Ravel, Clotilde Mircher, Franck Sturtz, Yann Grattau, M O Rethoré, Jean‐Maurice Delabar, William C. Mobley

    出版 2009
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  8. 8
    Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

    Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia 由 Lynn Adaimy, Éliane Chouery, Hala Mégarbané, Salman Mroueh, Valérie Delague, Elsa Nicolas, Hanen Belguith, Philippe de Mazancourt, André Mégarbané

    出版 2007
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  9. 9
    Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

    Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations 由 Marie‐Hélène Gannagé‐Yared, Jürgen Klammt, Éliane Chouery, Sandra Corbani, Hala Mégarbané, Joelle Abou Ghoch, Nancy Choucair, Roland Pfäffle, André Mégarbané

    出版 2012
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  10. 10
    Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene

    Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate... 由 Valérie Delague, Corinne Bareil, Sylvie Tuffery‐Giraud, Patrice Bouvagnet, Éliane Chouery, Salam Koussa, Thierry Maisonobe, Jacques Loiselet, André Mégarbané, Mireille Claustres

    出版 2000
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  11. 11
    Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

    Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation 由 Andy Willaert, Fransiska Malfait, Sofie Symoens, Kris Gevaert, Hülya Kayserili, André Mégarbané, Geert Mortier, JG Leroy, Paul Coucke, Anne De Paepe

    出版 2008
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  12. 12
    Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

    Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men 由 Yasmina Auguste, Valérie Delague, Jean-Pierre Desvignes, Guy Longepied, A. Gnisci, Pierre Besnier, Nicolas Lévy, Christophe Béroud, André Mégarbané, Catherine Metzler‐Guillemain, Michael Mitchell

    出版 2018
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  13. 13
    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome 由 Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    出版 2004
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  14. 14
    Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

    Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta 由 Bozena Polok, Pascal Escher, Aude Ambresin, Éliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané, Daniel F. Schorderet

    出版 2009
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  15. 15
    Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

    Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome 由 Nisha Patel, Arif O. Khan, Ahmad M. Mansour, Jawahir Y. Mohamed, Abdullah Al-Assiri, Randa Haddad, Xiaofei Jia, Yong Xiong, André Mégarbané, Elias I. Traboulsi, Fowzan S. Alkuraya

    出版 2014
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  16. 16
    Gain-of-Function Mutations in <i>TRPM4</i> Cause Autosomal Dominant Isolated Cardiac Conduction Disease

    Gain-of-Function Mutations in <i>TRPM4</i> Cause Autosomal Dominant Isolated Cardiac Conduction Disease 由 Hui Liu, Loubna El Zein, Martin Kruse, Romain Guinamard, Alf Beckmann, A Bozio, Güven Kurtbay, André Mégarbané, Iris Ohmert, G Blaysat, E Villain, Olaf Pongs, Patrice Bouvagnet

    出版 2010
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  17. 17
    Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

    Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H 由 Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irène Boccaccio, Éliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbané, Georg Haase, Nicolas Lévy

    出版 2007
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  18. 18
    DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome

    DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome 由 Yosra Bejaoui, Aleem Razzaq, Noha A. Yousri, Junko Oshima, André Mégarbané, Abeer Qannan, Ramya Potabattula, Tanvir Alam, George M. Martin, Henning F. Horn, Thomas Haaf, Steve Horvath, Nady El Hajj

    出版 2022
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  19. 19
    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome 由 José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Éliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert Brosh, André Mégarbané, Zoha Kibar

    出版 2012
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  20. 20
    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene 由 Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot, Tamao Endo, Éliane Chouery, Kevin P. Campbell, André Mégarbané, Pascale Guicheney

    出版 2011
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