Zoekresultaten - Lesley C. Adès

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  1. 1
    Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

    Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. door David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass, Bronwyn Kerr, Jeffrey Chaitow, Lesley C. Adès, Nicole Chia, Meredith Wilson

    Gepubliceerd in 1998
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  2. 2
    FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

    FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation door Kimberly A. Aldinger, Ordan J. Lehmann, Louanne Hudgins, Victor V. Chizhikov, Alexander G. Bassuk, Lesley C. Adès, Ian D. Krantz, William B. Dobyns, Kathleen J. Millen

    Gepubliceerd in 2009
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  3. 3
    Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

    Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome door Kenneth N. Maclean, James E. Smith, Luke St Heaps, Nicole Chia, R. H. Williams, Gregory B. Peters, Ella Onikul, Tim McCrossin, Ordan J. Lehmann, Lesley C. Adès

    Gepubliceerd in 2005
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  4. 4
    Ten novel<i>FBN2</i>mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

    Ten novel<i>FBN2</i>mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype door Prateek Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne H. Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow‐Keong Thong, Lesley C. Adès, Dianna M. Milewicz

    Gepubliceerd in 2001
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  5. 5
    Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

    Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene door Alain Colige, Lieve Nuytinck, Ingrid Haußer, Anthonie J. van Essen, Marc Thiry, Christian Herens, Lesley C. Adès, Fransiska Malfait, Anne De Paepe, Peter Franck, G. Wolff, Jan C. Oosterwijk, J.H. Sillevis Smitt, Charles M. Lapière, Betty Nusgens

    Gepubliceerd in 2004
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  6. 6
    Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

    Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency door Marjolijn Renard, Tammy M. Holm, Regan Veith, Bert Callewaert, Lesley C. Adès, Osman Başpınar, Angela Pickart, Majed Dasouki, Juliane Hoyer, Anita Rauch, Pamela Trapane, Michael G. Earing, Paul Coucke, Lynn Y. Sakai, Harry C. Dietz, Anne M. De Paepe, Bart Loeys

    Gepubliceerd in 2010
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  7. 7
    De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

    De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction door Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza‐Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley C. Adès, Joseph F. Maher, Dongchuan Guo, L. Maximilian Buja, Dong Kim, James Hyland, Ellen S. Regalado

    Gepubliceerd in 2010
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  8. 8
    Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

    Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year door Chantal Stheneur, Laurence Faivre, Gwenaëlle Collod‐Béroud, Élodie Gautier, Christine Binquet, Claire Bonithon‐Kopp, Mireille Claustres, Anne H. Child, Eloisa Arbustini, Lesley C. Adès, Uta Francke, Karin Mayer, Mine Arslan‐Kirchner, Anne De Paepe, Bertrand Chevallier, Damien Bonnet, Guillaume Jondeau, Cathérine Boileau

    Gepubliceerd in 2010
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  9. 9
    Marfan Database (third edition): new mutations and new routines for the software

    Marfan Database (third edition): new mutations and new routines for the software door Gwenaëlle Collod‐Béroud, Christophe Béroud, Lesley C. Adès, Cheryl Black, Maureen Boxer, D. J. H. Brock, Katherine Holman, Anne De Paepe, Uta Francke, Ulrich Grau, Caroline Hayward, Hanns-Georg Klein, Wanguo Liu, Lieve Nuytinck, Leena Peltonen, Ana Beatriz Alvarez Pérez, Terhi Rantamäki, Claudine Junien, Cathérine Boileau

    Gepubliceerd in 1998
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  10. 10
    Update of the UMD-<i>FBN1</i>mutation database and creation of an<i>FBN1</i>polymorphism database

    Update of the UMD-<i>FBN1</i>mutation database and creation of an<i>FBN1</i>polymorphism database door Gwenaëlle Collod‐Béroud, Saga Le Bourdelles, Lesley C. Adès, Leena Ala‐Kokko, Patrick Booms, Maureen Boxer, Anne H. Child, Paolo Comeglio, Anne De Paepe, James Hyland, K. Holman, Ilkka Kaitila, Bart Loeys, Gábor Mátyás, Lieve Nuytinck, Leena Peltonen, Terhi Rantamäki, Peter N. Robinson, Beat Steinmann, Claudine Junien, Christophe Béroud, Cathérine Boileau

    Gepubliceerd in 2003
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  11. 11
    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection door Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan L. Scott, P. Dane Witmer, Lesley C. Adès, Grégor Andelfinger, Pauline Arnaud, Cathérine Boileau, Bert Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart Loeys, Dianna M. Milewicz, Julie De Backer

    Gepubliceerd in 2018
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  12. 12
    Cardiovascular manifestations in men and women carrying a FBN1 mutation

    Cardiovascular manifestations in men and women carrying a FBN1 mutation door Delphine Détaint, Laurence Faivre, Gwenaëlle Collod‐Béroud, Anne H. Child, Bart Loeys, Christine Binquet, Élodie Gautier, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, Chantal Stheneur, Dorothy Halliday, Christophe Béroud, Claire Bonithon‐Kopp, Mireille Claustres, Henri Plauchu, Peter N. Robinson, Anatoli Kiotsekoglou, Julie De Backer, Lesley C. Adès, Uta Francke, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Gepubliceerd in 2010
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  13. 13
    Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

    Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands door Laurence Faivre, Gwenaëlle Collod‐Béroud, Anne H. Child, Bert Callewaert, Bart Loeys, Christine Binquet, Élodie Gautier, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, Chantal Stheneur, Anatoli Kiotsekoglou, Paolo Comeglio, Nicola Marziliano, Dorothy Halliday, Christophe Béroud, Claire Bonithon‐Kopp, Mireille Claustres, H Plauchu, Peter N. Robinson, Lesley C. Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Gepubliceerd in 2008
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  14. 14
    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations door Mariëlle Alders, Antonella Mendola, Lesley C. Adès, Lihadh Al Gazali, Carlo Bellini, Bruno Dallapiccola, Patrick Edery, Ulrich Frank, F. Hornshuh, Sanne Huisman, Sujatha Jagadeesh, Hülya Kayserili, Wee Teik Keng, Dorit Lev, Carlos E. Prada, J Sampson, J. Schmidtke, Vandana Shashi, Yolande van Bever, Nathalie Van der Aa, Judith M.A. Verhagen, Johanna B. G. M. Verheij, Miikka Vikkula, Raoul C. M. Hennekam

    Gepubliceerd in 2012
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  15. 15
    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study door Michael J. Friez, Susan Sklower Brooks, Roger E. Stevenson, Michael Field, Monica J. Basehore, Lesley C. Adès, Courtney Sebold, Stephen J. McGee, Samantha Saxon, Cindy Skinner, Maria E. Craig, Lucy Murray, Richard J. Simensen, Ying Yzu Yap, Marie Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick Tarpey, Fatima Abidi, Jozef Gécz, Charles E. Schwartz

    Gepubliceerd in 2016
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  16. 16
    Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

    Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation door Laurence Faivre, Gwenaëlle Collod‐Béroud, Bert Callewaert, A. H. Child, Christine Binquet, Élodie Gautier, Bart Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, C. Stheneur, Anatoli Kiotsekoglou, Paolo Comeglio, Nicola Marziliano, J. E. Wolf, O. Bouchot, Philippe Khau Van Kien, Christophe Béroud, Mireille Claustres, C. Bonithon-Kopp, Peter N. Robinson, Lesley C. Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Guillaume Jondeau, Cathérine Boileau

    Gepubliceerd in 2008
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  17. 17
    Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations

    Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations door Laurence Faivre, Alice Masurel‐Paulet, Gwenaëlle Collod‐Béroud, Bert Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Élodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy Halliday, Christophe Béroud, Claire Bonithon‐Kopp, Mireille Claustres, Peter N. Robinson, Lesley C. Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Gepubliceerd in 2008
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  18. 18
    The new Ghent criteria for Marfan syndrome: what do they change?

    The new Ghent criteria for Marfan syndrome: what do they change? door Laurence Faivre, Gwenaëlle Collod‐Béroud, Lesley C. Adès, Eloisa Arbustini, Anne H. Child, Bert Callewaert, Bart Loeys, Christine Binquet, Élodie Gautier, Karin Mayer, Mine Arslan‐Kirchner, Maurizia Grasso, Christophe Béroud, Dalil Hamroun, Claire Bonithon‐Kopp, H Plauchu, Peter N. Robinson, Julie De Backer, Paul Coucke, Uta Francke, O. Bouchot, J. E. Wolf, Chantal Stheneur, Nadine Hanna, Delphine Détaint, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

    Gepubliceerd in 2011
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  19. 19
    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype door Emma M. Wade, Zandra A. Jenkins, Philip B. Daniel, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Christa M. de Geus, Hans‐Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C. M. Hennekam, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, David O. Sillence, Andrea Superti‐Furga, Hermine E. Veenstra‐Knol, Dagmar Wieczorek, Louise C. Wilson, David Markie, Stephen P. Robertson

    Gepubliceerd in 2017
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  20. 20
    Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

    Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study door Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys, Anne H. Child, Christine Binquet, Élodie Gautier, Bert Callewaert, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Nicola Marziliano, Harry C. Dietz, Dorothy Halliday, Christophe Béroud, Claire Bonithon‐Kopp, Mireille Claustres, Christine Muti, Henri Plauchu, Peter N. Robinson, Lesley C. Adès, Andrew Biggin, B. Benetts, Maggie Brett, Katherine Holman, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Guillaume Jondeau, Cathérine Boileau

    Gepubliceerd in 2007
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