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Genetic Causes of Craniosynostosis: An Update.
Published in:
Molecular Syndromology, 2019, v. 10, n. 1/2, p. 6, doi. 10.1159/000492266
By:
- Goos, Jacqueline A.C.;
- Mathijssen, Irene M.J.
Publication type:
Article
Management and outcomes of obstructive sleep apnea in children with Robin sequence, a cross-sectional study.
Published in:
Clinical Oral Investigations, 2017, v. 21, n. 6, p. 1971, doi. 10.1007/s00784-016-1985-y
By:
- Lieshout, Manouk;
- Joosten, Koen;
- Koudstaal, Maarten;
- Schroeff, Marc;
- Dulfer, Karolijn;
- Mathijssen, Irene;
- Wolvius, Eppo
Publication type:
Article
A novel mutation in FGFR2.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 123, doi. 10.1002/ajmg.a.36827
By:
- Goos, Jacqueline A. C.;
- van den Ouweland, Ans M. W.;
- Swagemakers, Sigrid M. A.;
- Verkerk, Annemieke J. M. H.;
- Hoogeboom, A. Jeannette M.;
- van Veelen, Marie‐Lise C.;
- Mathijssen, Irene M. J.;
- van der Spek, Peter J.
Publication type:
Article
Boston type craniosynostosis: Report of a second mutation in MSX2.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2626, doi. 10.1002/ajmg.a.36126
By:
- Florisson, Joyce M.G.;
- Verkerk, Annemieke J.M.H.;
- Huigh, Daphne;
- Hoogeboom, A. Jeannette M.;
- Swagemakers, Sigrid;
- Kremer, Andreas;
- Heijsman, Daphne;
- Lequin, Maarten H.;
- Mathijssen, Irene M.J.;
- van der Spek, Peter J.
Publication type:
Article
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 244, doi. 10.1002/ajmg.a.35632
By:
- Florisson, Joyce M.G.;
- Mathijssen, Irene M.J.;
- Dumee, Belinda;
- Hoogeboom, Jeannette A.M.;
- Poddighe, Pino J.;
- Oostra, Ben A.;
- Frijns, Jean Pierre;
- Koster, Linda;
- de Klein, Annelies;
- Eussen, Bert;
- de Vries, Bert B.A.;
- Swagemakers, Sigrid;
- van der Spek, Peter J.;
- Verkerk, Annemieke J.M.H.
Publication type:
Article
Unravelling Robin sequence: Considerations of diagnosis and treatment.
Published in:
2014
By:
- van Lieshout, Manouk J S;
- Joosten, Koen F M;
- Hoeve, Hans L J;
- Mathijssen, Irene M J;
- Koudstaal, Maarten J;
- Wolvius, Eppo B
Publication type:
Journal Article
Unravelling Robin sequence.
Published in:
Laryngoscope, 2014, v. 124, n. 5, p. E203, doi. 10.1002/lary.24437
By:
- Lieshout, Manouk J. S.;
- Joosten, Koen F. M.;
- Hoeve, Hans L. J.;
- Mathijssen, Irene M. J.;
- Koudstaal, Maarten J.;
- Wolvius, Eppo B.
Publication type:
Article
Screening for obstructive sleep apnea in treacher-collins syndrome.
Published in:
Laryngoscope, 2012, v. 122, n. 4, p. 930, doi. 10.1002/lary.23187
By:
- Plomp, Raul G.;
- Joosten, Koen F. M.;
- Wolvius, Eppo B.;
- Hoeve, Hans L. J.;
- Poublon, Rene M. L.;
- van Montfort, Kees A. G. M.;
- Bredero-Boelhouwer, Hansje H.;
- Mathijssen, Irene M. J.
Publication type:
Article
The frontosphenoidal suture: fetal development and phenotype of its synostosis.
Published in:
Pediatric Radiology, 2008, v. 38, n. 4, p. 431, doi. 10.1007/s00247-008-0750-z
By:
- Mathijssen, Irene M. J.;
- Meulen, Jacques J. N. M.;
- van Adrichem, Léon N. A.;
- Vaandrager, J. Michiel;
- van der Hulst, René R. W. J.;
- Lequin, Maarten H.;
- Vermeij-Keers, Christl
Publication type:
Article
Early and long-term skull growth after surgical correction for sagittal synostosis in relation to the occurrence of papilledema.
Published in:
Child's Nervous System, 2023, v. 39, n. 1, p. 211, doi. 10.1007/s00381-022-05629-x
By:
- van de Beeten, Stephanie D. C.;
- Kurniawan, Melissa S. I. C.;
- Kamst, Nathalie W.;
- Loudon, Sjoukje E.;
- Mathijssen, Irene M. J.;
- van Veelen, Marie-Lise C.
Publication type:
Article
The use of OCT to detect signs of intracranial hypertension in patients with sagittal suture synostosis: Reference values and correlations.
Published in:
Child's Nervous System, 2022, v. 38, n. 10, p. 1937, doi. 10.1007/s00381-022-05598-1
By:
- van de Beeten, Stephanie D. C.;
- Ramdas, Wishal D.;
- Yang, Sumin;
- Loudon, Sjoukje E.;
- den Ottelander, Bianca K.;
- Rizopoulos, Dimitris;
- van Veelen, Marie-Lise C.;
- Mathijssen, Irene M. J.
Publication type:
Article
Optical coherence tomography: a quantitative tool to screen for papilledema in craniosynostosis.
Published in:
Child's Nervous System, 2014, v. 30, n. 6, p. 1067, doi. 10.1007/s00381-014-2376-9
By:
- Driessen, Caroline;
- Eveleens, Jordi;
- Bleyen, Isabel;
- Veelen, Marie-Lise;
- Joosten, Koen;
- Mathijssen, Irene
Publication type:
Article
Results of early surgery for sagittal suture synostosis: long-term follow-up and the occurrence of raised intracranial pressure.
Published in:
Child's Nervous System, 2013, v. 29, n. 6, p. 997, doi. 10.1007/s00381-013-2024-9
By:
- Veelen, Marie-Lise;
- Eelkman Rooda, Oscar;
- Jong, Tim;
- Dammers, Ruben;
- Adrichem, Leon;
- Mathijssen, Irene
Publication type:
Article
Sleep apnoea in syndromic craniosynostosis occurs independent of hindbrain herniation.
Published in:
Child's Nervous System, 2013, v. 29, n. 2, p. 289, doi. 10.1007/s00381-012-1922-6
By:
- Driessen, Caroline;
- Joosten, Koen;
- Florisson, Joyce;
- Lequin, Maarten;
- Veelen, Marie-Lise;
- Dammers, Rúben;
- Bredero-Boelhouwer, Hansje;
- Tasker, Robert;
- Mathijssen, Irene
Publication type:
Article
Spring-assisted correction of sagittal suture synostosis.
Published in:
Child's Nervous System, 2012, v. 28, n. 9, p. 1347, doi. 10.1007/s00381-012-1850-5
By:
- Veelen, Marie-Lise;
- Mathijssen, Irene
Publication type:
Article
Health-related problems and quality of life in patients with syndromic and complex craniosynostosis.
Published in:
Child's Nervous System, 2012, v. 28, n. 6, p. 879, doi. 10.1007/s00381-012-1681-4
By:
- Jong, Tim;
- Maliepaard, Marianne;
- Bannink, Natalja;
- Raat, Hein;
- Mathijssen, Irene
Publication type:
Article
Respiratory Distress Following Cleft Palate Repair in Children With Robin Sequence.
Published in:
Cleft Palate Craniofacial Journal, 2016, v. 53, n. 2, p. 203, doi. 10.1597/14-250
By:
- van Lieshout, Manouk J. S.;
- Voshol, Ilje E.;
- Joosten, Koen F. M.;
- van Schroeff, Marc P.;
- Mathijssen, Irene M. J.;
- Koudstaa, Maarten J.;
- Wolvius, Eppo B.
Publication type:
Article
LETTERS TO THE EDITOR.
Published in:
2010
By:
- Twigg, Stephen R. F.;
- Wilkie, Andrew O. M.;
- Versnel, Sarah L.;
- Mathijssen, Irene M. J.
Publication type:
Letter
Disappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis.
Published in:
Neurosurgical Focus, 2021, v. 50, n. 4, p. 1, doi. 10.3171/2021.1.FOCUS20739
By:
- Wilson, Alexander T.;
- Gaillard, Linda;
- Versnel, Sarah L.;
- Spoor, Jochem K. H.;
- van Veelen, Marie-Lise C.;
- Mathijssen, Irene M. J.
Publication type:
Article
Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041060
By:
- Rostamzad, Parinaz;
- Arslan, Zehra F.;
- Mathijssen, Irene M. J.;
- Koudstaal, Maarten J.;
- Pleumeekers, Mieke M.;
- Versnel, Sarah L.;
- Loudon, Sjoukje E.
Publication type:
Article
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Published in:
Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00614
By:
- Suratannon, Narissara;
- van Wijck, Rogier T. A.;
- Broer, Linda;
- Xue, Laixi;
- van Meurs, Joyce B. J.;
- Barendregt, Barbara H.;
- van der Burg, Mirjam;
- Dik, Willem A.;
- Chatchatee, Pantipa;
- Langerak, Anton W.;
- Swagemakers, Sigrid M. A.;
- Goos, Jacqueline A. C.;
- Mathijssen, Irene M. J.;
- Dalm, Virgil A. S. H.;
- Suphapeetiporn, Kanya;
- Heezen, Kim C.;
- Drabwell, Jose;
- Uitterlinden, André G.;
- van der Spek, Peter J.;
- van Hagen, P. Martin
Publication type:
Article
ERN CRANIO patient coverage of craniosynostosis in Europe.
Published in:
2022
By:
- Spivack, O.;
- Gaillard, L.;
- ERN CRANIO hospital representatives;
- Mathijssen, Irene M. J.;
- Delye, Hans;
- Arnaud, Eric;
- Bulstrode, Neil;
- Johnson, David;
- Evans, Martin;
- Parks, Chris;
- Poca, Maria A.;
- Romance, Ana;
- Kölby, Lars;
- Nowinski, Daniel;
- Faggin, Roberto;
- Giussani, Carlo;
- Valentini, Laura;
- Tamburrini, Gianpiero;
- Thomale, Ulrich-Wilhelm;
- Vuola, Pia
Publication type:
journal article
Cerebral cortex maldevelopment in syndromic craniosynostosis.
Published in:
Developmental Medicine & Child Neurology, 2022, v. 64, n. 1, p. 118, doi. 10.1111/dmcn.14984
By:
- Wilson, Alexander T;
- Den Ottelander, Bianca K;
- Van Veelen, Marie‐Lise C;
- Dremmen, Marjolein HG;
- Persing, John A;
- Vrooman, Henri A;
- Mathijssen, Irene MJ;
- Tasker, Robert C
Publication type:
Article
Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 104, doi. 10.1111/dmcn.14670
By:
- Den Ottelander, Bianca K;
- Van Veelen, Marie‐Lise C;
- De Goederen, Robbin;
- Van De Beeten, Stephanie DC;
- Dremmen, Marjolein HG;
- Loudon, Sjoukje E;
- Versnel, Sarah L;
- Van Den Ouweland, Ans MW;
- Van Dooren, Marieke F;
- Joosten, Koen FM;
- Mathijssen, Irene MJ
Publication type:
Article
Intracranial hypertension and cortical thickness in syndromic craniosynostosis.
Published in:
2020
By:
- Wilson, Alexander T;
- Den Ottelander, Bianca K;
- De Goederen, Robbin;
- Van Veelen, Marie‐Lise C;
- Dremmen, Marjolein H G;
- Persing, John A;
- Vrooman, Henri A;
- Mathijssen, Irene M J;
- Van Veelen, Marie-Lise C
Publication type:
journal article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
By:
- Oussoren, Esmee;
- Mathijssen, Irene M. J.;
- Wagenmakers, Margreet;
- Verdijk, Rob M.;
- Bredero‐Boelhouwer, Hansje H.;
- van Veelen‐Vincent, Marie‐Lise C.;
- van der Meijden, Jan C.;
- van den Hout, Johanna M. P.;
- Ruijter, George J. G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
By:
- Oussoren, Esmee;
- Mathijssen, Irene M. J.;
- Wagenmakers, Margreet;
- Verdijk, Rob M.;
- Bredero-Boelhouwer, Hansje H.;
- van Veelen-Vincent, Marie-Lise C.;
- van der Meijden, Jan C.;
- van den Hout, Johanna M. P.;
- Ruijter, George J. G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 15, p. 2501, doi. 10.1093/hmg/ddz072
By:
- Goos, Jacqueline A C;
- Vogel, Walter K;
- Mlcochova, Hana;
- Millard, Christopher J;
- Esfandiari, Elahe;
- Selman, Wisam H;
- Calpena, Eduardo;
- Koelling, Nils;
- Carpenter, Evan L;
- Swagemakers, Sigrid M A;
- Spek, Peter J van der;
- Filtz, Theresa M;
- Schwabe, John W R;
- Iwaniec, Urszula T;
- Mathijssen, Irene M J;
- Leid, Mark;
- Twigg, Stephen R F
Publication type:
Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
By:
- Twigg, Stephen R.F.;
- Babbs, Christian;
- van den Elzen, Marijke E.P.;
- Goriely, Anne;
- Taylor, Stephen;
- McGowan, Simon J.;
- Giannoulatou, Eleni;
- Lonie, Lorne;
- Ragoussis, Jiannis;
- Akha, Elham Sadighi;
- Knight, Samantha J.L.;
- Zechi-Ceide, Roseli M.;
- Hoogeboom, Jeannette A.M.;
- Pober, Barbara R.;
- Toriello, Helga V.;
- Wall, Steven A.;
- Rita Passos-Bueno, M.;
- Brunner, Han G.;
- Mathijssen, Irene M.J.;
- Wilkie, Andrew O.M.
Publication type:
Article
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 732, doi. 10.1002/humu.23010
By:
- Goos, Jacqueline A.C.;
- Fenwick, Aimee L.;
- Swagemakers, Sigrid M.A.;
- McGowan, Simon J.;
- Knight, Samantha J.L.;
- Twigg, Stephen R.F.;
- Hoogeboom, A. Jeannette M.;
- Dooren, Marieke F.;
- Magielsen, Frank J.;
- Wall, Steven A.;
- Mathijssen, Irene M.J.;
- Wilkie, Andrew O.M.;
- Spek, Peter J.;
- Ouweland, Ans M.W.
Publication type:
Article
Long-term aesthetic results of frontoorbital correction for frontal plagiocephaly.
Published in:
Journal of Neurosurgery, 2006, v. 105, n. 1, p. 21, doi. 10.3171/ped.2006.105.1.21
By:
- Hilling, Denise E.;
- Mathijssen, Irene M. J.;
- Mulder, Paul G. H.;
- Vaandrager, J. Michiel
Publication type:
Article
Postoperative cognitive outcome for synostotic frontal plagiocephaly.
Published in:
Journal of Neurosurgery, 2006, v. 105, n. 1, p. 16, doi. 10.3171/ped.2006.105.1.16
By:
- Mathijssen, Irene;
- Arnaud, Eric;
- Lajeunie, Elizabeth;
- Marchac, Daniel;
- Renier, Dominique
Publication type:
Article
Assessing Nonacceptance of the Facial Appearance in Adult Patients After Complete Treatment of Their Rare Facial Cleft.
Published in:
Aesthetic Plastic Surgery, 2012, v. 36, n. 4, p. 938, doi. 10.1007/s00266-012-9897-y
By:
- Elzen, Marijke;
- Versnel, Sarah;
- Duivenvoorden, Hugo;
- Mathijssen, Irene
Publication type:
Article
Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
Published in:
European Journal of Orthodontics, 2022, v. 44, n. 3, p. 287, doi. 10.1093/ejo/cjab056
By:
- Choi, Tsun M;
- Kramer, Gem J C;
- Goos, Jacqueline A C;
- Mathijssen, Irene M J;
- Wolvius, Eppo B;
- Ongkosuwito, Edwin M
Publication type:
Article
Using Perfusion Contrast for Spatial Normalization of ASL MRI Images in a Pediatric Craniosynostosis Population.
Published in:
Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.698007
By:
- de Planque, Catherine A.;
- Mutsaerts, Henk J. M. M.;
- Keil, Vera C.;
- Erler, Nicole S.;
- Dremmen, Marjolein H. G.;
- Mathijssen, Irene M. J.;
- Petr, Jan
Publication type:
Article
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Published in:
2014
By:
- Fenwick, Aimee L.;
- Goos, Jacqueline A. C.;
- Rankin, Julia;
- Lord, Helen;
- Lester, Tracy;
- Hoogeboom, A. Jeannette M.;
- van den Ouweland, Ans M. W.;
- Wall, Steven A.;
- Mathijssen, Irene M. J.;
- Wilkie, Andrew O. M.
Publication type:
Case Study

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