Search Results - "Mathijssen, Irene M. J"

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

“…Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation…”
Get full text

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

“…We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short…”
Get full text

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis by Barrell, William B, Adel Al-Lami, Hadeel, Goos, Jacqueline A C, Swagemakers, Sigrid M A, van Dooren, Marieke, Torban, Elena, van der Spek, Peter J, Mathijssen, Irene M J, Liu, Karen J

“…Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull…”
Get full text

Obstructive Sleep Apnea-Specific Quality of Life and Behavioral Problems in Children with Syndromic Craniosynostosis by BANNINK, Natalja, MALIEPAARD, Marianne, RAAT, Hein, JOOSTEN, Koen F. M, MATHIJSSEN, Irene M. J

“…This study aimed at evaluating the impact of syndromic craniosynostosis on quality of life, assessing the association between the presence of craniosynostosis…”
Get full text

Very Low Prevalence of Intracranial Hypertension in Trigonocephaly by Cornelissen, Martijn J., Loudon, Sjoukje E., van Doorn, Frida E. C., Muller, Rogier P. M., van Veelen, Marie-Lise C., Mathijssen, Irene M. J.

“…Trigonocephaly is caused by metopic suture synostosis. It is treated by fronto-orbital remodeling, not only to correct the deformity but also to prevent…”
Get full text

Spring-assisted correction of sagittal suture synostosis by van Veelen, Marie-Lise C., Mathijssen, Irene M. J.

“…Purpose The purpose of this study is to describe the technique and advantages and limitations of spring-assisted cranioplasty for sagittal suture synostosis…”
Get full text

Guidelines for reconstruction of the eyelids and canthal regions by Mathijssen, Irene M.J, van der Meulen, Jacques C

“…Summary A large number of reports are available on the options for reconstructing specific defects of the eyelids or (peri) orbital area, which may complicate…”
Get full text

Using Perfusion Contrast for Spatial Normalization of ASL MRI Images in a Pediatric Craniosynostosis Population 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

“…Spatial normalization is an important step for group image processing and evaluation of mean brain perfusion in anatomical regions using arterial spin labeling…”
Get full text

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis by Maliepaard, Marianne, Mathijssen, Irene M J, Oosterlaan, Jaap, Okkerse, Jolanda M E

“…To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic…”
Get full text

Defense Mechanisms in Congenital and Acquired Facial Disfigurement: A Clinical-Empirical Study by van den Elzen, Marijke E.P, Versnel, Sarah L, Perry, J Christopher, Mathijssen, Irene M.J, Duivenvoorden, Hugo J

“…ABSTRACTIt is of clinical interest to investigate the degree to which patients with facial disfigurement use defense styles. Therefore, 59 adults born with…”
Get full text

Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study by van der Plas, Pleun P.J.M., van Heesch, Gwen G.M., Koudstaal, Maarten J., Pullens, Bas, Mathijssen, Irene M.J., Bernard, Simone E., Wolvius, Eppo B., Joosten, Koen F.M.

“…Objective To reflect upon our non-surgical respiratory management by evaluating clinical outcomes regarding airway, feeding, and growth during the first year…”
Get full text

The New Opt-Out Dutch National Breast Implant Registry – Lessons learnt from the road to implementation by Rakhorst, Hinne A., MD PhD, Mureau, M.A.M., MD, PhD, Cooter, Rodney D., MBBS, M.D FRACS, McNeil, John, PhD, Prof, van Hooff, Miranda, M.Sc, van der Hulst, René, MD PhD Prof, Hommes, Juliette, MD PhD, Hoornweg, Marije, MD PhD, Mooijen-Zaal, Laura H., MD PhD, Liem, Patricia, MSc, Mathijssen, Irene MJ., MD PhD Prof

“…Abstract An estimated 1-3% of all women in the Netherlands carry breast implants. Since the introduction five decades ago, problems with a variety of breast…”
Get full text

Long-Term Psychological Functioning of Adults with Severe Congenital Facial Disfigurement by Versnel, Sarah L., Plomp, Raul G., Passchier, Jan, Duivenvoorden, Hugo J., Mathijssen, Irene M. J.

“…In adults with severe congenital facial disfigurement, assessment of long-term psychological impact remains limited. This study determines the long-term…”
Get full text

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

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
Get full text

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

Get full text

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause? by Gaillard, Linda, Goverde, Anne, van den Bosch, Quincy C C, Jehee, Fernanda S, Brosens, Erwin, Veenma, Danielle, Magielsen, Frank, de Klein, Annelies, Mathijssen, Irene M J, van Dooren, Marieke F

“…Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder…”
Get full text

Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis by Mathijssen, Irene M J

Get full text

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes 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, Sadighi Akha, Elham, 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

“…Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic…”
Get full text

Testing for Implicit Gender Bias among Plastic Surgeons by Bucknor, Alexandra, Ngaage, Ledibabari M., Taylor, Kirsten J., Kamali, Parisa, Rakhorst, Hinne A., Mathijssen, Irene M. J., Furnas, Heather

“…The aim of this study was to examine for the presence of implicit bias within the field of plastic surgery using a gender-specific Implicit Association Test…”
Get full text

Three-Dimensional Airway Changes after Le Fort III Advancement in Syndromic Craniosynostosis Patients by Nout, Erik, Bouw, Frederik P., Veenland, Jifke F., Hop, Wim C. J., van der Wal, Karel G. H., Mathijssen, Irene M. J., Wolvius, Eppo B.

“…To investigate the changes of upper airway volume in syndromic craniosynostosis patients following Le Fort III advancement, computed tomographic scans were…”
Get full text