Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Griet Van Buggenhout"'
Publikováno v:
European journal of medical genetics, 66(5):104726. ELSEVIER SCIENCE BV
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are disti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ae1bc92a9cbf5230722b77ef011280b
https://doi.org/10.1016/j.ejmg.2023.104726
https://doi.org/10.1016/j.ejmg.2023.104726
Publikováno v:
Developmental Medicine & Child Neurology.
To characterize the neurodevelopmental profile of patients with Phelan-McDermid syndrome (PMS) and describe the nature and trajectory of regression.This was a retrospective, monocentric study examining the clinical and developmental data of 24 patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::996b332c1a8e18db24b4b706dd93051e
https://doi.org/10.1111/dmcn.15482
https://doi.org/10.1111/dmcn.15482
Autor:
A.M. van Eeghen, D. Stemkens, José Ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.D.C. van Balkom, C.M.W. Gaasterland, M.J. Klein Haneveld, Klea Vyshka, A. Hugon, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya J. Carbin, Jennifer Cooke, Robert J. Damstra, Irenaeus F.M. de Coo, Stella Di Domenico, D. Gareth Evans, Andreas M. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul C. Hennekam, Sarah Jesse, Sarina G. Kant, Sylvia A. Koza, Els Kuiper, Annemiek M. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San José Cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne C. Tabet, Roberto Toro, Alison Turner, Ingrid D.C. van Balkom, Griet van Buggenhout, Agnies M. van Eeghen, Conny M.A. van Ravenswaaij-Arts, Sabrina van Weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Margreet Walinga
Publikováno v:
European Journal of Medical Genetics. 66:104747
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c4a852d2d5f8c4b560f022c9345f9ac
https://doi.org/10.1016/j.ejmg.2023.104747
https://doi.org/10.1016/j.ejmg.2023.104747
Autor:
Kimberly C. Kuiper, Hanna Swaab, Nicole Tartaglia, Griet van Buggenhout, Caroline Wouters, Sophie van Rijn
Publikováno v:
Genes, Brain and Behavior, 21(6)
Sex chromosomal trisomies (SCT) are associated with impairments in executive functions in school-aged children, adolescents, and adults. However, knowledge on preschool development of executive functions is limited but greatly needed to guide early i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0f17aa93df78ab409229325592ca80f
https://lirias.kuleuven.be/handle/20.500.12942/696879
https://lirias.kuleuven.be/handle/20.500.12942/696879
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
Autor:
Lore Lannoo, Khaila van Straaten, Jeroen Breckpot, Nathalie Brison, Luc De Catte, Eftychia Dimitriadou, Eric Legius, Hilde Peeters, Ilse Parijs, Olga Tsuiko, Leen Vancoillie, Joris Robert Vermeesch, Griet Van Buggenhout, Kris Van Den Bogaert, Kristel Van Calsteren, Koenraad Devriendt
Publikováno v:
European journal of human genetics : EJHG. 30(12)
Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and 21. Using genome-wide screening also other "rare" autosomal trisomies (RATs) can be detected with a frequency about half the frequency of the common trisomies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96592986288e6fee27477a0e76ef8295
https://pubmed.ncbi.nlm.nih.gov/36045223
https://pubmed.ncbi.nlm.nih.gov/36045223
Autor:
Carolien Moyson, Cas Dejonckheere, Francis de Zegher, Leen Antonio, Griet Van Buggenhout, Brigitte Decallonne
Publikováno v:
Acta Clinica Belgica. 77:86-92
Patients with Turner syndrome (TS), the most common sex chromosome abnormality in women, can suffer from a variety of well-researched reproductive, cardiovascular, metabolic, and autoimmune comorbidities. Few studies investigate the neoplasia risk. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::838c48d98242c8bb8cff912e6b36bbff
https://doi.org/10.1080/17843286.2020.1805237
https://doi.org/10.1080/17843286.2020.1805237
Autor:
Hilde Van Esch, Joris Vermeesch, Louise Gallagher, Eric Legius, Griet Van Buggenhout, Thomy de Ravel, Laura Vandenhove, Peter Aerssens, Nele Cosemans, Koenraad Devriendt, Annick Vogels, Sanbing Shen, Hilde Olivié, Jacqueline Fitzgerald, Hilde Peeters, Jeroen Breckpot, Els Ortibus
Publikováno v:
Journal of Medical Genetics. 57:347-355
BackgroundIntragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c857a9e8bca50014a388e16fe900e5
https://doi.org/10.1136/jmedgenet-2019-106448
https://doi.org/10.1136/jmedgenet-2019-106448
Autor:
Machteld Keupers, Chantal Van Ongeval, Eric Legius, Hilde Brems, Patrick Neven, Ellen Denayer, Hilde Van Esch, Renate Prevos, Christine Desmedt, G Hoste, Ines Nevelsteen, Jan Ardui, H. Wildiers, Hilde Peeters, A Smeets, K Punie, Griet Van Buggenhout, Giuseppe Floris, Geneviève Michils
Publikováno v:
Cancer Research. 80:P6-08
Background: The introduction of multi-gene panel testing and improved awareness under patients and physicians has led to an increase of individuals with known germline pathogenic variants in hereditary breast and ovarian cancer (HBOC) genes. Signific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a707942f889ea199f39afedec2e1113a
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-03
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-03
PURPOSE OF REVIEW: The purpose of this review is to summarize the literature on cognitive development, communication, behavioral or psychiatric aspects in Phelan-McDermid syndrome (PMS) and to discuss the clinical implications and recommendations of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e54676dd79c5f85ee8ecb927f86f2192
https://lirias.kuleuven.be/handle/123456789/664561
https://lirias.kuleuven.be/handle/123456789/664561
Background Individuals with Phelan-McDermid syndrome (PMS) are characterised by phenotypical traits that can be experienced as challenging by their environment. This study assessed parenting stress and Family Quality of Life (FQOL) in parents of indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf75517b406d9d03b34e8bfc481f72f
https://lirias.kuleuven.be/handle/123456789/667632
https://lirias.kuleuven.be/handle/123456789/667632