Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Erik Boot"'
Autor:
Annelieke R. Müller, Erik Boot, Stijn B. Notermans, Carlo Schuengel, Lidewij Henneman, Martina C. Cornel, Mieke M. van Haelst, Mariëlle Alders, Clara D. M. van Karnebeek, Bas Bijl, Frits A. Wijburg, Agnies M. van Eeghen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary ap
Externí odkaz:
https://doaj.org/article/13db67d541484357bc556a2612613591
Autor:
Emma N.M.M. von Scheibler, Abhishek Appaji, Tos T.J.M. Berendschot, Noël J.C. Bauer, Naren P. Rao, Agnies M. van Eeghen, Thérèse A.M.J. van Amelsvoort, Erik Boot
Publikováno v:
Biomarkers in Neuropsychiatry, Vol 9, Iss , Pp 100081- (2023)
Purpose: The 22q11.2 deletion syndrome (22q11.2DS) has an estimated prevalence of 1:2148 live births and is associated with an increased risk of schizophrenia, cognitive decline and early-onset Parkinson’s disease. Because retinal and cerebral tiss
Externí odkaz:
https://doaj.org/article/94adc787e76743218f6492142ca80fe8
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100141- (2023)
Externí odkaz:
https://doaj.org/article/0392ef656f684a1ba67521b677c91148
Autor:
Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based
Externí odkaz:
https://doaj.org/article/6593be5fa35b44bd98744295b24e8adb
Autor:
Lily Van, Tracy Heung, Sarah L. Malecki, Christian Fenn, Andrea Tyrer, Marcos Sanches, Eva W.C. Chow, Erik Boot, Maria Corral, Satya Dash, Susan R. George, Anne S. Bassett
Publikováno v:
EClinicalMedicine, Vol 26, Iss , Pp 100528- (2020)
Background: The 22q11.2 microdeletion is the pathogenic copy number variation (CNV) associated with 22q11.2 deletion syndrome (22q11.2DS, formerly known as DiGeorge syndrome). Familiar endocrinological manifestations include hypoparathyroidism and hy
Externí odkaz:
https://doaj.org/article/c77059ec52e54db79f5bf6dcc86a5cd2
Autor:
Erik Boot
Publikováno v:
Altre Modernità, Vol 0, Iss 0, Pp 57-73 (2013)
The second meeting of the AISI (Associazione Italiana Studi Iberoamericani) was dedicated to “Apocalypse” in Latin American literature. In the year of 2012 this particular subject was chosen as various non- and pseudo-scientific and New Age publi
Externí odkaz:
https://doaj.org/article/077d95d83bae48e09a5c27fc756dca36
Autor:
Geor Bakker, Matthan W A Caan, Wilhelmina A M Vingerhoets, Fabiana da Silva-Alves, Mariken de Koning, Erik Boot, Dorien H Nieman, Lieuwe de Haan, Oswald J Bloemen, Jan Booij, Thérèse A M J van Amelsvoort
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0159928 (2016)
Subjects with 22q11.2 deletion syndrome (22q11DS) and subjects with ultra-high risk for psychosis (UHR) share a risk of approximately 30% to develop a psychotic disorder. Studying these groups helps identify biological markers of pathophysiological p
Externí odkaz:
https://doaj.org/article/0ca8e4a3c5054355a1c06c0683adf6ea
Autor:
Nico J M van Beveren, Lianne C Krab, Sigrid Swagemakers, Gabriëlle H S Buitendijk, Erik Boot, Peter van der Spek, Ype Elgersma, Therese A M J van Amelsvoort
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33473 (2012)
22q11 Deletion Syndrome (22q11DS) is associated with dysmorphology and a high prevalence of schizophrenia-like symptoms. Several genes located on chromosome 22q11 have been linked to schizophrenia. The deletion is thought to disrupt the expression of
Externí odkaz:
https://doaj.org/article/95be85b8a07b47a38fc1fe7fba3cbf58
Autor:
Nico J. M. van Beveren, Lianne C. Krab, Sigrid Swagemakers, Gabriëe H.S. Buitendijk, Erik Boot, Peter van der Spek, Ype Elgersma, Therese A. M. J. van Amelsvoort
Publikováno v:
PLoS ONE, Vol 7, Iss 4 (2012)
Externí odkaz:
https://doaj.org/article/c27f8b5e7fbf4e1c9de1a913e6ba4534
Autor:
Fabiana da Silva Alves, Erik Boot, Nicole Schmitz, Aart Nederveen, Jacob Vorstman, Christina Lavini, Petra J Pouwels, Lieuwe de Haan, Don Linszen, Therese van Amelsvoort
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21685 (2011)
OBJECTIVE: People with velo-cardio-facial syndrome or 22q11 deletion syndrome (22q11DS) have behavioral, cognitive and psychiatric problems. Approximately 30% of affected individuals develop schizophrenia-like psychosis. Glutamate dysfunction is thou
Externí odkaz:
https://doaj.org/article/bec4b241a3e54e829090eaa8946ef9e9