Search Results - Irene M.J. Mathijssen

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  1. 1
    Guideline for Care of Patients With the Diagnoses of Craniosynostosis

    Guideline for Care of Patients With the Diagnoses of Craniosynostosis by Irene M.J. Mathijssen

    Published 2015
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  2. 2
    Updated Guideline on Treatment and Management of Craniosynostosis

    Updated Guideline on Treatment and Management of Craniosynostosis by Irene M.J. Mathijssen

    Published 2020
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  3. 3
    Genetic Causes of Craniosynostosis: An Update

    Genetic Causes of Craniosynostosis: An Update by Jacqueline A.C. Goos, Irene M. J. Mathijssen

    Published 2018
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  4. 4
    Efficacy and Safety of Autologous Fat Transfer in Facial Reconstructive Surgery

    Efficacy and Safety of Autologous Fat Transfer in Facial Reconstructive Surgery by Todor K. Krastev, Jip Beugels, Juliëtte Hommes, A. Piątkowski, Irene M.J. Mathijssen, René R. W. J. van der Hulst

    Published 2018
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  5. 5
    Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis

    Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis by Parinaz Rostamzad, Zehra Arslan, Irene M. J. Mathijssen, Maarten J. Koudstaal, Mieke M. Pleumeekers, Sarah L. Versnel, Sjoukje E. Loudon

    Published 2022
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  6. 6
    European Reference Networks: challenges and opportunities

    European Reference Networks: challenges and opportunities by Birutė Tumienė, Holm Graeßner, Irene M.J. Mathijssen, Alberto M. Pereira, Franz Schaefer, Maurizio Scarpa, Jean‐Yves Blay, Hélène Dollfus, Nicoline Hoogerbrugge

    Published 2021
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  7. 7
    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 by Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, A.M.W. van den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen

    Published 2013
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  8. 8
    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene by Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    Published 2009
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  9. 9
    Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

    Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth by Pekka Nieminen, Neil V. Morgan, Aimée L Fenwick, Satu Parmanen, Lotta Veistinen, Marja L. Mikkola, Peter J. van der Spek, Andrew S. Giraud, Louise M. Judd, Sirpa Arte, Louise Brueton, Steven A. Wall, Irene M. J. Mathijssen, Eamonn R. Maher, Andrew O.M. Wilkie, Sven Kreiborg, Irma Thesleff

    Published 2011
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  10. 10
    RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

    RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity by Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee, Chad A. Perlyn, Luís Garcia Alonso, Daniela Franco Bueno, Dian Donnai, Dragana Josifiova, Irene M.J. Mathijssen, Jenny E.V. Morton, Karen Helene Ørstavik, Elizabeth Sweeney, Steven A. Wall, Jeffrey L. Marsh, Peter Nürnberg, Maria Rita Passos‐Bueno, Andrew O.M. Wilkie

    Published 2007
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  11. 11
    The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

    The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males by Stephen R.F. Twigg, Kazuya Matsumoto, Alexa Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, Maria Teresa Cruz Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie

    Published 2006
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  12. 12
    De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

    De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy by Aviël Ragamin, Carolina Cavaliéri Gomes, Karen Bindels‐de Heus, Renata Lazari Sandoval, Angelia V. Bassenden, Luciano Lauria Dib, Fernando Kok, Julieta Goncalves Silva Macedo Alves, Irene M.J. Mathijssen, Evita Medici-van den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert M. Berghuis, Marjon van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia M.S. Mancini, Ricardo Santiago Gomez

    Published 2021
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  13. 13
    Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

    Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability by Stephen R.F. Twigg, Jennifer Forecki, Jacqueline A.C. Goos, Ivy C A Richardson, A. Jeannette M. Hoogeboom, Ans M.W. van den Ouweland, Sigrid M.A. Swagemakers, Maarten H. Lequin, Daniel Van Antwerp, Simon J. McGowan, Isabelle Westbury, Kerry A. Miller, Steven A. Wall, Peter J. van der Spek, Irene M.J. Mathijssen, Erwin Pauws, Christa Merzdorf, Andrew O.M. Wilkie

    Published 2015
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  14. 14
    Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

    Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes by Stephen R.F. Twigg, Christian Babbs, Marijke E.P. van den Elzen, Anne Goriely, Stephen Taylor, Simon J. McGowan, Eleni Giannoulatou, Lorne Lonie, Jiannis Ragoussis, Elham Sadighi Akha, Samantha J.L. Knight, Roseli Maria Zechi‐Ceide, Jeannette Hoogeboom, Barbara R. Pober, Helga V. Toriello, Steven A. Wall, Maria Rita Passos‐Bueno, Han G. Brunner, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    Published 2013
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  15. 15
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation by Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    Published 2020
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  16. 16
    Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

    Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis by Vikram Sharma, Aimée L Fenwick, Mia Brockop, Simon J. McGowan, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, Angela F. Brady, Owase Jeelani, Sally Ann Lynch, John B. Mulliken, Dylan J. Murray, Julie Phipps, Elizabeth Sweeney, Susan Tomkins, Louise C. Wilson, Sophia Bennett, Richard J. Cornall, John Broxholme, Alexander Kanapin, David Johnson, Steven A. Wall, Peter J. van der Spek, Irene M. J. Mathijssen, Robert E. Maxson, Stephen R.F. Twigg, Andrew O.M. Wilkie

    Published 2013
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  17. 17
    Diagnostic value of exome and whole genome sequencing in craniosynostosis

    Diagnostic value of exome and whole genome sequencing in craniosynostosis by Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Julie Phipps, Aimée L Fenwick, David Johnson, Steven A. Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C. Taylor, Jacqueline A.C. Goos, Sigrid M.A. Swagemakers, Irene M. J. Mathijssen, Peter J. van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A. Hurst, Jenny E.V. Morton, Elizabeth Sweeney, Astrid Weber, Louise C. Wilson, Andrew O.M. Wilkie

    Published 2016
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  18. 18
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder by Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    Published 2019
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  19. 19
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder by Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    Published 2018
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