检索结果 - 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 由 Irene M.J. Mathijssen

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

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

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

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

    出版 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 由 Todor K. Krastev, Jip Beugels, Juliëtte Hommes, A. Piątkowski, Irene M.J. Mathijssen, René R. W. J. van der Hulst

    出版 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 由 Parinaz Rostamzad, Zehra Arslan, Irene M. J. Mathijssen, Maarten J. Koudstaal, Mieke M. Pleumeekers, Sarah L. Versnel, Sjoukje E. Loudon

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

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

    出版 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 由 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

    出版 2013
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  8. 8
    Anxiety and depression in adolescents with a visible difference: A systematic review and meta-analysis

    Anxiety and depression in adolescents with a visible difference: A systematic review and meta-analysis 由 Marije van Dalen, Bram Dierckx, Suzanne G.M.A. Pasmans, Elisabeth W. C. Aendekerk, Irene M. J. Mathijssen, Maarten J. Koudstaal, Reinier Timman, Heidi Williamson, Manon H. J. Hillegers, Elisabeth M. W. J. Utens, Jolanda M. E. Okkerse

    出版 2020
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  9. 9
    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 由 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

    出版 2009
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  10. 10
    Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

    Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth 由 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

    出版 2011
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  11. 11
    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 由 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

    出版 2007
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  12. 12
    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 由 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

    出版 2006
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  13. 13
    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 由 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

    出版 2021
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  14. 14
    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 由 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

    出版 2015
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  15. 15
    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 由 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

    出版 2013
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  16. 16
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation 由 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

    出版 2020
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  17. 17
    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 由 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

    出版 2013
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  18. 18
    Diagnostic value of exome and whole genome sequencing in craniosynostosis

    Diagnostic value of exome and whole genome sequencing in craniosynostosis 由 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

    出版 2016
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  19. 19
    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 由 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

    出版 2019
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  20. 20
    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 由 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

    出版 2018
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