Search Results - Carlo Marcelis

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  1. 1
    Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review

    Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review by Charlotte H. W. Wijers, Iris A.L.M. van Rooij, Carlo Marcelis, Han G. Brunner, Ivo de Blaauw, Nel Roeleveld

    Published 2014
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  2. 2
    Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

    Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation by Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gül Serdaroğlu, Esra Ataman, Maya Chopra, S. García García, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias R. Baumgartner, Cecilia Giunta

    Published 2011
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  3. 3
    Genotype-phenotype correlations in MYCN-related Feingold syndrome

    Genotype-phenotype correlations in MYCN-related Feingold syndrome by Carlo Marcelis, Frans A. Hol, Gail E. Graham, Paul N.M.A. Rieu, Richárd Kellermayer, Rowdy Meijer, Dorien Lugtenberg, Hans Scheffer, Hans van Bokhoven, Han G. Brunner, Arjan P.M. de Brouwer

    Published 2008
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  4. 4
    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype by Maian Roifman, Carlo Marcelis, Tara Paton, Christian R. Marshall, Rachel Silver, Jamie L. Lohr, Helger G. Yntema, Hanka Venselaar, Hülya Kayserili, Bregje W.M. van Bon, Gareth Seaward, Han G. Brunner, David Chitayat

    Published 2014
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  5. 5
    Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication

    Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication by Pavithra L. Chavali, Lovorka Stojic, Luke W. Meredith, Nimesh Joseph, Michael S. Nahorski, Thomas J. Sanford, Trevor R. Sweeney, Benjamin A. Krishna, Myra Hosmillo, Andrew E. Firth, Richard Bayliss, Carlo Marcelis, Susan Lindsay, Ian Goodfellow, C. Geoffrey Woods, Fanni Gergely

    Published 2017
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  6. 6
    Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies

    Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies by Winnok H. De Vos, Frederik Houben, M. A. F. Kamps, Ashraf N. Malhas, Fons Verheyen, Juliën Cox, Erik M. M. Manders, Valerie L. R. M. Verstraeten, Maurice A. M. Van Steensel, Carlo Marcelis, Arthur van den Wijngaard, David J. Vaux, Frans C. S. Ramaekers, Jos L. V. Broers

    Published 2011
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  7. 7
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes by Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi, Wyatt W. Yue, Perciliz L. Tan, Katie Clarkson, Jill Clayton‐Smith, Ken Corning, Julie R. Jones, Wayne Lam, Grazia M.S. Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald D. Cohn, David Chitayat, Tom H. Millard, Nicholas Katsanis, Han G. Brunner, Siddharth Banka

    Published 2017
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  8. 8
    Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

    Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across... by Charlotte H. W. Wijers, Ivo de Blaauw, Carlo Marcelis, René Wijnen, Han G. Brunner, Paola Midrio, Piergiorgio Gamba, Maurizio Clementi, Ekkehart Jenetzky, Nadine Zwink, Heiko Reutter, Enrika Bartels, Sabine Grasshoff‐Derr, Stefan Holland‐Cunz, Stuart Hosie, Stefanie Märzheuser, Eberhard Schmiedeke, Célia Cretolle, Sabine Sarnacki, Marc A. Levitt, Nine Knoers, Nel Roeleveld, Iris A.L.M. van Rooij

    Published 2010
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  9. 9
    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations by Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, William Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G. Brunner, Hermann‐Josef Lüdecke, Dagmar Wieczorek

    Published 2013
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  10. 10
    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice by Lisenka E.L.M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Sarquis Jehee, Débora Romeo Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos‐Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli

    Published 2011
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  11. 11
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP by Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    Published 2014
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  12. 12
    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review by Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font–Montgomery, Dawn Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cécile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

    Published 2025
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  13. 13
    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

    Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family by Jin Dai, O.-H. Kim, T.-J. Cho, Maren Schmidt‐Rimpler, H. Tonoki, Kazuharu Takikawa, Nobuhiko Haga, K. Miyoshi, Hiroshi Kitoh, Won Joon Yoo, In Ho Choi, Hae‐Ryong Song, Dong‐Kyu Jin, H. T. Kim, Hotaka Kamasaki, Paola Bianchi, Giedre Grigelioniené, Sheela Nampoothiri, Masahiro Minagawa, Shinichirou Miyagawa, Toshiyuki Fukao, Carlo Marcelis, M. C. E. Jansweijer, R Hennekam, F. Bedeschi, Aki Mustonen, Qing Jiang, Hirofumi Ohashi, Tatsuya Furuichi, Sheila Unger, Bernhard Zabel, Ekkehart Lausch, Andrea Superti‐Furga, Gen Nishimura, Shiro Ikegawa

    Published 2010
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  14. 14
    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

    Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” by Chae Syng Lee, He Fu, Nissan Vida Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Carlo Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover‐Fong, Nara Sobreira, Richard M. Pauli, Carlos A. Bacino, Deborah Krakow, Jillian S. Parboosingh, Patrick Yap, Ariana Kariminejad, Marie McDonald, Mariana Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti‐Furga, James T. Lu, D.H. Cohn, Marco Tartaglia, Brendan Lee, Dieter P. Reinhardt, Philippe M. Campeau

    Published 2017
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  15. 15
    Hypertrophic remodelling in cardiac regulatory myosin light chain (<i>MYL2</i>) founder mutation carriers

    Hypertrophic remodelling in cardiac regulatory myosin light chain (<i>MYL2</i>) founder mutation carriers by Godelieve R.F. Claes, Florence H. J. van Tienen, Patrick Lindsey, Ingrid P.C. Krapels, Apollonia T.J.M. Helderman-van den Enden, Marije B. Hoos, Yvette E.G. Barrois, Johanna W. H. Janssen, Aimée Paulussen, Jan-Willem E. M. Sels, S. H. H. Kuijpers, J. Peter van Tintelen, Maarten P. van den Berg, Wilfred F. Heesen, Pablo García‐Pavía, Andreas Perrot, Imke Christiaans, Simone Salemink, Carlo Marcelis, H.J.M. Smeets, Han G. Brunner, Paul G.A. Volders, Arthur van den Wijngaard

    Published 2015
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  16. 16
    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer by Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

    Published 2018
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  17. 17
    <i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality

    <i>PORCN</i>mutations in focal dermal hypoplasia: coping with lethality by Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey A. Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian O. Ellis, Christina Raissa I. Francisco, Patricia Della Giovanna, Ben C.J. Hamel, Cristina Has, Kaatje Heinelt, Andreas Janecke, Wolfgang Kastrup, Bart Loeys, Ingo Lohrisch, Carlo Marcelis, Yasmin Mehraein, Marie Eleanore O. Nicolas, Dana Pagliarini, Mauro Paradisi, Annalisa Patrizi, Maria Piccione, Hildegunde Piza‐Katzer, Bettina Prager, Katrina Prescott, Juliane Strien, Gülen Eda Ütine, Marc S. Zeller, Karl‐Heinz Grzeschik

    Published 2009
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  18. 18
    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies

    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies by Job A.J. Verdonschot, Els K. Vanhoutte, Godelieve R.F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M.E.I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. Van Craenenbroeck, Bart Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q.C.M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stéphane Heymans, Ingrid P.C. Krapels, Han G. Brunner

    Published 2020
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  19. 19
    Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

    Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association by Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw‐Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasić, Tracie Pennimpede, S. Natarajan, Ethan D. Sperry, Danilo Swann Matassa, Nataša Stajić, Radovan Bogdanović, Ivo de Blaauw, Carlo Marcelis, Charlotte H. W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff‐Derr, Stefan Holland‐Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo A. Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko Reutter, Friedhelm Hildebrandt

    Published 2013
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  20. 20
    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

    A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases by Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H. Hoefsloot, Erik‐Jan Kamsteeg, Arjen R. Mensenkamp, Richard J. Rodenburg, Helger G. Yntema, Liesbeth Spruijt, Sascha Vermeer, Tuula Rinne, Koen L.I. van Gassen, Daniëlle Bodmer, Dorien Lugtenberg, Rick de Reuver, Wendy Buijsman, Ronny Derks, Nienke Wieskamp, Bert van den Heuvel, Marjolijn J. L. Ligtenberg, Hannie Kremer, David A. Koolen, Bart P.C. van de Warrenburg, Frans P.M. Cremers, Carlo Marcelis, Jan Smeitink, Saskia B. Wortmann, Wendy A.G. van Zelst–Stams, Joris A. Veltman, Han G. Brunner, Hans Scheffer, Marcel Nelen

    Published 2013
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