Canlyniadau Chwilio - Yvonne Hilhorst‐Hofstee

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  1. 1
    The clinical spectrum of complete FBN1 allele deletions

    The clinical spectrum of complete FBN1 allele deletions gan Yvonne Hilhorst‐Hofstee, Ben C.J. Hamel, Joanne Verheij, M Rijlaarsdam, Grazia M.S. Mancini, Jan M. Cobben, Cindy Giroth, Claudia AL Ruivenkamp, Kerstin Hansson, Janneke Timmermans, Henriëtte A. Moll, Martijn H. Breuning, Gerard Pals

    Cyhoeddwyd 2010
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  2. 2
    The revised Ghent nosology for the Marfan syndrome

    The revised Ghent nosology for the Marfan syndrome gan Bart Loeys, Harry C. Dietz, Alan C. Braverman, Bert Callewaert, Julie De Backer, Richard B. Devereux, Yvonne Hilhorst‐Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M. Milewicz, Reed E. Pyeritz, Paul D. Sponseller, B P Wordsworth, Anne M. De Paepe

    Cyhoeddwyd 2010
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  3. 3
    Age‐related and regional changes of aortic stiffness in the marfan syndrome: Assessment with velocity‐encoded MRI

    Age‐related and regional changes of aortic stiffness in the marfan syndrome: Assessment with velocity‐encoded MRI gan Jos J.M. Westenberg, Arthur J. Scholte, Zuzana Vašková, Rob J. van der Geest, Maarten Groenink, Gerda Labadie, Peter J. Boogaard, Teodora Radonic, Yvonne Hilhorst‐Hofstee, Barbara J.M. Mulder, Lucia J.M. Kroft, Johan H. C. Reiber, Albert de Roos

    Cyhoeddwyd 2011
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  4. 4
    <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections

    <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections gan Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy Kurniawan Cayami, Ellen S. Regalado, R. Van Uffelen, Hanka Venselaar, Sultana MH Faradz, Gerrit Vriend, Marjan M. Weiss, Erik A. Sistermans, Alessandra Maugeri, Dianna M. Milewicz, Gerard Pals, Fleur S van Dijk

    Cyhoeddwyd 2015
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  5. 5
    Inflammation Aggravates Disease Severity in Marfan Syndrome Patients

    Inflammation Aggravates Disease Severity in Marfan Syndrome Patients gan Teodora Radonic, Piet de Witte, Maarten Groenink, Vivian de Waard, René Lutter, Marco van Eijk, Marnix Jansen, Janneke Timmermans, Marlies Kempers, Arthur J. Scholte, Yvonne Hilhorst‐Hofstee, Maarten P. van den Berg, J. Peter van Tintelen, Gerard Pals, Marieke J.H. Baars, Barbara J.M. Mulder, Aeilko H. Zwinderman

    Cyhoeddwyd 2012
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  6. 6
    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study

    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study gan Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas, Eelco Dulfer, Apollonia T. J. M. Helderman‐van den Enden, Yvonne Hilhorst‐Hofstee, Robert M. Kauling, Marlies Kempers, Martijn A. Oudijk, Alessandra Maugeri, Hennie T. Brüggenwirth, Arjan C. Houweling, Serwet Demirdas

    Cyhoeddwyd 2025
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  7. 7
    Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives

    Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives gan Judith M.A. Verhagen, Marlies Kempers, Luc Cozijnsen, Berto J. Bouma, Anthonie L. Duijnhouwer, Jan G. Post, Yvonne Hilhorst‐Hofstee, Sebastiaan C.A.M. Bekkers, Wilhelmina S. Kerstjens‐Frederikse, Thomas J. van Brakel, Eric Lambermon, Marja W. Wessels, Bart Loeys, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar

    Cyhoeddwyd 2018
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  8. 8
    Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation

    Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation gan M.J.E. Walenkamp, Marcel Karperien, Alberto M. Pereira, Yvonne Hilhorst‐Hofstee, J. van Doorn, J. W. Chen, Subburaman Mohan, Adam Denley, Briony E. Forbes, Hermine A. van Duyvenvoorde, Sandra van Thiel, C. A. Sluimers, Jeroen J. Bax, J. A. P. M. de Laat, MH Breuning, Johannes A. Romijn, J. M. Wit

    Cyhoeddwyd 2005
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  9. 9
    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders gan Eline Overwater, Luisa Marsili, Marieke J.H. Baars, Annette F. Baas, Irma van de Beek, Eelco Dulfer, Johanna M. van Hagen, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Ingrid P.C. Krapels, Leonie A. Menke, Judith M.A. Verhagen, Kak Khee Yeung, Petra Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M. Weiss, Els Voorhoeve, J. Peter van Tintelen, Arjan C. Houweling, Alessandra Maugeri

    Cyhoeddwyd 2018
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  10. 10
    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization gan Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Līvija Medne, Rosemarie Rupps, Alvaro Serrano, Erik C. Thorland, Anne Chun‐Hui Tsai, Yvonne Hilhorst‐Hofstee, Claudia Ruivenkamp, Hilde Van Esch, Marie‐Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz

    Cyhoeddwyd 2012
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  11. 11
    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

    Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause gan Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T.M. Hendrickx, Suzanne C.E.H. Sallevelt, Ralph W.H. Gottschalk, Chantal Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst‐Hofstee, Marjolein Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, I.F.M. de Coo, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets

    Cyhoeddwyd 2018
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  12. 12
    Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

    Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants gan Denise van der Linde, Ingrid M.B.H. van de Laar, Aida M. Bertoli‐Avella, Rogier A. Oldenburg, Jos A. Bekkers, Francesco Mattace‐Raso, Anton H. van den Meiracker, Adriaan Moelker, Fop van Kooten, Ingrid M.E. Frohn-Mulder, Janneke Timmermans, Els Moltzer, Jan M. Cobben, Lut Van Laer, Bart Loeys, Julie De Backer, Paul Coucke, Anne De Paepe, Yvonne Hilhorst‐Hofstee, Marja W. Wessels, Jolien W. Roos‐Hesselink

    Cyhoeddwyd 2012
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  13. 13
    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients gan Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, J.D. Bos, Suzanne Alsters, Marieke J.H. Baars, Annette F. Baas, Özlem Baysal, Saskia N. van der Crabben, Eelco Dulfer, Noor A. A. Giesbertz, Apollonia T.J.M. Helderman-van den Enden, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Fenne L. Komdeur, Bart Loeys, Daniëlle Majoor‐Krakauer, Charlotte W. Ockeloen, Eline Overwater, J. Peter van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar, Arjan C. Houweling

    Cyhoeddwyd 2024
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  14. 14
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients gan Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    Cyhoeddwyd 2019
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  15. 15
    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> gan Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark E. Lindsay, David Liang, Sarju Mehta, Jennifer Hague, Judith M.A. Verhagen, Ingrid M.B.H. van de Laar, Marja W. Wessels, Yvonne Detisch, Mieke M. van Haelst, Annette F. Baas, Klaske D. Lichtenbelt, Kees P. J. Braun, Denise van der Linde, Jolien W. Roos‐Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Rode Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst‐Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L. Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys

    Cyhoeddwyd 2018
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  16. 16
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants gan Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    Cyhoeddwyd 2017
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  17. 17
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy gan Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Cyhoeddwyd 2022
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