A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement
Douzgou, Sofia, Rawson, Myfanwy, Baselga, Eulalia, Danielpour, Moise, Faivre, Laurence, Kashanian, Alon, Keppler‐Noreuil, Kim M., Kuentz, Paul, Mancini, Grazia M. S., Maniere, Marie‐Cecile, Martinez‐Glez, Victor, Parker, Victoria E., Semple, Robert K., Srivastava, Siddharth, Vabres, Pierre, De Wit, Marie‐Claire Y., Graham, John M., Clayton‐Smith, Jill, Mirzaa, Ghayda M., Biesecker, Leslie G.
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
Get full text
Journal Article
Mycoplasma pneumoniae triggering the Guillain-Barré syndrome: A case-control study
Meyer Sauteur, Patrick M., Huizinga, Ruth, Tio-Gillen, Anne P., Roodbol, Joyce, Hoogenboezem, Theo, Jacobs, Enno, van Rijn, Monique, van der Eijk, Annemiek A., Vink, Cornelis, de Wit, Marie-Claire Y., van Rossum, Annemarie M.C., Jacobs, Bart C.
Published in Annals of neurology (01.10.2016)
Published in Annals of neurology (01.10.2016)
Get full text
Journal Article
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Bindels‐de Heus, Karen G. C. B., Mous, Sabine E., Hooven‐Radstaake, Maartje, Iperen‐Kolk, Bianca M., Navis, Cindy, Rietman, André B., Hoopen, Leontine W., Brooks, Alice S., Elgersma, Ype, Moll, Henriëtte A., Wit, Marie‐Claire Y.
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
Get full text
Journal Article
Human RAD50 deficiency: Confirmation of a distinctive phenotype
Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
Get full text
Journal Article
Radiation Exposure From Pediatric CT Scans and Subsequent Cancer Risk in the Netherlands
Meulepas, Johanna M, Ronckers, Cécile M, Smets, Anne M J B, Nievelstein, Rutger A J, Gradowska, Patrycja, Lee, Choonsik, Jahnen, Andreas, van Straten, Marcel, de Wit, Marie-Claire Y, Zonnenberg, Bernard, Klein, Willemijn M, Merks, Johannes H, Visser, Otto, van Leeuwen, Flora E, Hauptmann, Michael
Published in JNCI : Journal of the National Cancer Institute (01.03.2019)
Published in JNCI : Journal of the National Cancer Institute (01.03.2019)
Get full text
Journal Article
Long-term outcome of Guillain-Barré syndrome in children
Roodbol, Joyce, de Wit, Marie-Claire Y., Aarsen, Femke K., Catsman-Berrevoets, Coriene E., Jacobs, Bart C.
Published in Journal of the peripheral nervous system (01.06.2014)
Published in Journal of the peripheral nervous system (01.06.2014)
Get full text
Journal Article
Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs
Overwater, Iris E., Bindels‐de Heus, Karen, Rietman, André B., Hoopen, Leontine W., Vergouwe, Yvonne, Moll, Henriette A., Wit, Marie‐Claire Y.
Published in Epilepsia (Copenhagen) (01.08.2015)
Published in Epilepsia (Copenhagen) (01.08.2015)
Get full text
Journal Article
Antibody responses to GalC in severe and complicated childhood Guillain‐Barré syndrome
Meyer Sauteur, Patrick M., Huizinga, Ruth, Tio‐Gillen, Anne P., de Wit, Marie‐Claire Y., Unger, Wendy W. J., Berger, Christoph, van Rossum, Annemarie M. C., Jacobs, Bart C.
Published in Journal of the peripheral nervous system (01.03.2018)
Published in Journal of the peripheral nervous system (01.03.2018)
Get full text
Journal Article
Meaningful outcomes for children and their caregivers attending a paediatric brain centre
Heydenrijk‐Kikkert, Myrna A., Schmidt, Ann Katrin K., Pangalila, Robert, De Wit, Marie‐Claire Y., Haren, Neeltje E. M., Van Veelen, Marie‐Lise C., Roebroeck, Marij E.
Published in Developmental medicine and child neurology (01.11.2023)
Published in Developmental medicine and child neurology (01.11.2023)
Get full text
Journal Article
Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial
van der Vaart, Thijs, MSc, Plasschaert, Ellen, MSc, Rietman, André B, MSc, Renard, Marleen, MD, Oostenbrink, Rianne, MD, Vogels, Annick, Prof, de Wit, Marie-Claire Y, MD, Descheemaeker, Mie-Jef, MSc, Vergouwe, Yvonne, PhD, Catsman-Berrevoets, Coriene E, MD, Legius, Eric, Prof, Elgersma, Ype, Prof, Moll, Henriëtte A, Prof
Published in Lancet neurology (01.11.2013)
Published in Lancet neurology (01.11.2013)
Get full text
Journal Article
Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
Get full text
Journal Article
Outcome measures in Angelman syndrome
Hagenaar, Doesjka A, Bindels-de Heus, Karen G C B, van Gils, Maud M, van den Berg, Louise, Ten Hoopen, Leontine W, Affourtit, Philine, Pel, Johan J M, Joosten, Koen F M, Hillegers, Manon H J, Moll, Henriëtte A, de Wit, Marie-Claire Y, Dieleman, Gwen C, Mous, Sabine E
Published in Journal of neurodevelopmental disorders (01.03.2024)
Published in Journal of neurodevelopmental disorders (01.03.2024)
Get full text
Journal Article
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
Bindels-de Heus, Karen G. C. B, Hagenaar, Doesjka A, Dekker, Ilonka, van der Kaay, Danielle C. M, Kerkhof, Gerthe F, Elgersma, Ype, de Wit, Marie-Claire Y, Mous, Sabine E, Moll, Henriette A
Published in Journal of clinical medicine (01.09.2023)
Published in Journal of clinical medicine (01.09.2023)
Get full text
Journal Article
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
Overwater, Iris E, Rietman, André B, Mous, Sabine E, Bindels-de Heus, Karen, Rizopoulos, Dimitris, Ten Hoopen, Leontine W, van der Vaart, Thijs, Jansen, Floor E, Elgersma, Ype, Moll, Henriette A, de Wit, Marie-Claire Y
Published in Neurology (09.07.2019)
Published in Neurology (09.07.2019)
Get more information
Journal Article
Severe childhood Guillain-Barré syndrome associated with Mycoplasma pneumoniae infection: a case series
Meyer Sauteur, Patrick M., Roodbol, Joyce, Hackenberg, Annette, de Wit, Marie-Claire Y., Vink, Cornelis, Berger, Christoph, Jacobs, Enno, van Rossum, Annemarie M. C., Jacobs, Bart C.
Published in Journal of the peripheral nervous system (01.06.2015)
Published in Journal of the peripheral nervous system (01.06.2015)
Get full text
Journal Article
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Smith, Richard S., Kenny, Connor J., Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer N., Hill, R. Sean, Shin, Taehwan, Chen, Allen Y., Doan, Ryan N., Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten G., Hecht, Jonathan L., Salonen, Oili, Barkovich, A. James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Y., Mancini, Grazia M.S., Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher A., Lehtinen, Maria K.
Published in Neuron (Cambridge, Mass.) (05.09.2018)
Published in Neuron (Cambridge, Mass.) (05.09.2018)
Get full text
Journal Article
Motor nerve excitability after childhood Guillain‐Barré syndrome
Drenthen, Judith, Roodbol, Joyce, Maathuis, Ellen M., Catsman‐Berrevoets, Coriene E., Blok, Joleen H., de Wit, Marie‐Claire Y., Jacobs, Bart C.
Published in Journal of the peripheral nervous system (01.06.2017)
Published in Journal of the peripheral nervous system (01.06.2017)
Get full text
Journal Article
Long‐term follow‐up of type 1 lissencephaly: survival is related to neuroimaging abnormalities
DE WIT, MARIE‐CLAIRE Y, DE RIJK‐VAN ANDEL, JOJANNEKE, HALLEY, DICKY J, PODDIGHE, PINO J, ARTS, WILLEM FRANS M, DE COO, IRENAEUS FM, MANCINI, GRAZIA MS
Published in Developmental medicine and child neurology (01.05.2011)
Published in Developmental medicine and child neurology (01.05.2011)
Get full text
Journal Article
Incidental Findings on Brain Imaging in the General Pediatric Population
Jansen, Philip R, Dremmen, Marjolein, van den Berg, Aaike, Dekkers, Ilona A, Blanken, Laura M.E, Muetzel, Ryan L, Bolhuis, Koen, Mulder, Rosa M, Kocevska, Desana, Jansen, Toyah A, de Wit, Marie-Claire Y, Neuteboom, Rinze F, Polderman, Tinca J.C, Posthuma, Danielle, Jaddoe, Vincent W.V, Verhulst, Frank C, Tiemeier, Henning, van der Lugt, Aad, White, Tonya J.H
Published in The New England journal of medicine (19.10.2017)
Published in The New England journal of medicine (19.10.2017)
Get full text
Journal Article