Search Results - Hester Y. Kroes

Refine Results
  1. 1
    A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction

    A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction by Robert M.W. Hofstra, Olivier Valdenaire, Ellen Arch, Jan Osinga, Hester Y. Kroes, Bernd‐Michael Löffler, Ada Hamosh, Carel Meijers, Charles H.C.M. Buys

    Published 1999
    Get full text
    Carta
    Save to List
    Saved in:
  2. 2
    Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

    Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type by Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Şimşek‐Kiper, Hester Y. Kroes, Koenraad Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Joubert syndrome: genotyping a Northern European patient cohort

    Joubert syndrome: genotyping a Northern European patient cohort by Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, Karen Duran, Carolien G. F. de Kovel, Mark J. van Roosmalen, Magdaléna Harakaľová, Isaäc J. Nijman, Wigard P. Kloosterman, Rachel H. Giles, Nine Knoers, Gijs van Haaften

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

    Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis by Ann Marie Hynes, Rachel H. Giles, Shalabh Srivastava, Lorraine Eley, Jennifer L. Whitehead, Marina Danilenko, Shreya Raman, Gisela G. Slaats, John G. Colville, Henry Ajzenberg, Hester Y. Kroes, Peter E. Thelwall, Nicholas L. Simmons, Colin Miles, John A. Sayer

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes by Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole Van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luís Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

    A Novel Nonsense Mutation in<i>CEP290</i>Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype by Karin W. Littink, Jan-Willem R. Pott, Rob W.J. Collin, Hester Y. Kroes, Joanne Verheij, Ellen A.W. Blokland, Marta de Castro‐Miró, Carel B. Hoyng, Caroline C. W. Klaver, Robert K. Koenekoop, Klaus Rohrschneider, Frans P.M. Cremers, L. Ingeborgh van den Born, Anneke I. den Hollander

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

    Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature by Bert Callewaert, Bart Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y. Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Mariëlle E.M. Swinkels, Carina Wallgren‐Pettersson, Orazio Gabrielli, Julie De Backer, Paul Coucke, Anne M. De Paepe

    Published 2008
    Get full text
    Revisão
    Save to List
    Saved in:
  8. 8
    OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

    OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin by Karlien L. M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock Hock Ngu, Bartłomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin‐Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

    Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations by Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, Rob W.J. Collin, Luminita Moruz, Joris A. Veltman, Susanne Roosing, Marijke N. Zonneveld, Amer Omar, Mahshad Darvish-Zargar, Irma López, Hester Y. Kroes, Maria M. van Genderen, Carel B. Hoyng, Klaus Rohrschneider, Mary J. van Schooneveld, Frans P.M. Cremers, Anneke I. den Hollander

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability by Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg, Tamar I. de Vries, Karen Duran, Jasper J. van der Smagt, Paulien A. Terhal, Peter M. van Hasselt, Hester Y. Kroes, Nanda M. Verhoeven‐Duif, Isaäc J. Nijman, Ellen C. Carbo, Koen L.I. van Gassen, Nine Knoers, Anke M. Hövels, Mieke M. van Haelst, Gepke Visser, Gijs van Haaften

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Healthcare recommendations for Joubert syndrome

    Healthcare recommendations for Joubert syndrome by Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D’Arrigo, Ian Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay‐Aygun, Enza Maria Valente, Dan Doherty

    Published 2019
    Get full text
    Revisão
    Save to List
    Saved in:
  12. 12
    MKS1 regulates ciliary INPP5E levels in Joubert syndrome

    MKS1 regulates ciliary INPP5E levels in Joubert syndrome by Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen Duran, Jonathan Adkins, Sairam A Kumar, Dana Knutzen, Nine Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

    Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations by Barbara D′haene, Françoise Meire, Ilse Claerhout, Hester Y. Kroes, Astrid S. Plomp, Yvonne Arens, Thomy de Ravel, Ingele Casteels, Sarah De Jaegere, Sally Hooghe, Wim Wuyts, Jenneke van den Ende, Françoise Roulez, Hermine E. Veenstra‐Knol, Rogier A. Oldenburg, Jacques C. Giltay, Johanna B. G. M. Verheij, Jan-Tjeerd de Faber, Björn Menten, Anne De Paepe, Philippe Kestelyn, Bart P. Leroy, Elfride De Baere

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Diagnostic exome sequencing in 266 Dutch patients with visual impairment

    Diagnostic exome sequencing in 266 Dutch patients with visual impairment by Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L. Ingeborgh van den Born, Caroline C. W. Klaver, Joanne Verheij, Carel B. Hoyng, Martijn H. Breuning, Camiel J. F. Boon, Anneke J.A. Kievit, Virginie J. M. Verhoeven, Jan WR Pott, Suzanne C.E.H. Sallevelt, Johanna M. van Hagen, Astrid S. Plomp, Hester Y. Kroes, Stefan H. Lelieveld, Jayne Y. Hehir‐Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans P.M. Cremers, Lies H. Hoefsloot, Helger G. Yntema

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma

    Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma by Verena Matejas, Bernward Hinkes, Faisal Alkandari, Lihadh Al‐Gazali, E. Annexstad, Mehmet Baha Aytaç, Margaret Barrow, Květa Bláhová, Detlef Böckenhauer, Hae Il Cheong, Iwona Maruniak‐Chudek, Pierre Cochat, Jörg Dötsch, Priya Gajjar, Raoul C. M. Hennekam, Françoise Janssen, Mikhail Kagan, Ariana Kariminejad, Markus J. Kemper, Jens Koenig, Jillene Kogan, Hester Y. Kroes, Eberhard Kuwertz-Bröking, Amy Feldman Lewanda, Ana Medeira, Jutta Muscheites, Patrick Niaudet, Michel Pierson, Anand Saggar, Laurie Seaver, Mohnish Suri, А.Н. Цыгин, Elke Wühl, Aleksandra Żurowska, Steffen Uebe, Friedhelm Hildebrandt, Corinne Antignac, Martin Zenker

    Published 2010
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  16. 16
    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features by Cristina Elena Niturad, Dorit Lev, Vera M. Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman‐Sagie, Hester Y. Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzońca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Hölger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A. Haas, Peter Nürnberg, Koen L.I. van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky‐Silver

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

    De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder by Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia M. Maas, Hester Y. Kroes, Augusta M.A. Lachmeijer, Koen L.I. van Gassen, Helen V. Firth, Susan Tomkins, Simon Bodek, Katrin Õunap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zöe Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro Iglesias, Kosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability by Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw‐Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane‐Yeboa, Gaetana Cerbone, Jill Clayton‐Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cédric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah‐Politi, Nicholas Stong, Tim M. Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?

    Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? by Michelle Hendriks, Virginie J. M. Verhoeven, Gabriëlle H.S. Buitendijk, Jan Roelof Polling, Magda A. Meester‐Smoor, Albert Hofman, Maarten Kamermans, L. Ingeborgh van den Born, Caroline C. W. Klaver, Ramon A. van Huet, B. Jeroen Klevering, Nathalie M. Bax, Stanley Lambertus, Caroline C. W. Klaver, Carel B. Hoyng, Clasien J. Oomen, Wendy A. van Zelst-Stams, Frans P.M. Cremers, Astrid S. Plomp, Mary J. van Schooneveld, Mies M. van Genderen, J. Schuil, F. Nienke Boonstra, Reinier O. Schlingemann, Arthur A. Bergen, Laurence Pierrache, Magda A. Meester‐Smoor, L. Ingeborgh van den Born, Camiel J. F. Boon, Jan Willem R. Pott, Redmer van Leeuwen, Hester Y. Kroes, Yvonne de Jong‐Hesse

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum by Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: