Zobrazeno 1 - 10
of 17
pro vyhledávání: '"von Scheibler E"'
Autor:
Vingerhoets C; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands., Ruiz-Fernandez J; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and INSERM U1299, Centre Borelli UMR9010, ENS-Paris-Saclay, Université Paris Saclay, Paris, France., von Scheibler E; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Koraal, Maastricht, The Netherlands., Vergaelen E; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Volbragt N; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Soons N; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Serrarens C; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Vogels A; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Boot E; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; and The Dalglish Family 22q Clinic, Toronto, Ontario, Canada., van Amelsvoort T; Department of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Swillen A; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Publikováno v:
BJPsych open [BJPsych Open] 2024 Nov 11; Vol. 10 (6), pp. e203. Date of Electronic Publication: 2024 Nov 11.
Autor:
Ehrhart F; Department of Bioinformatics, NUTRIM/MHeNS, Maastricht University, Maastricht, The Netherlands., Silva A; Psychiatry & Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., Amelsvoort TV; Psychiatry & Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands., von Scheibler E; Psychiatry & Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.; Advisium, 's Heeren Loo, Amersfoort, The Netherlands., Evelo C; Department of Bioinformatics, NUTRIM/MHeNS, Maastricht University, Maastricht, The Netherlands., Linden DEJ; Psychiatry & Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.
Publikováno v:
The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry [World J Biol Psychiatry] 2024 Apr; Vol. 25 (4), pp. 222-232. Date of Electronic Publication: 2024 May 01.
Akademický článek
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Autor:
von Scheibler, Emma N. M. M.1,2, van Eeghen, Agnies M.1,3, de Koning, Tom J.4,5,6, Kuijf, Mark L.7, Zinkstok, Janneke R.8,9,10, Müller, Annelieke R.1,3, van Amelsvoort, Thérèse A. M. J.2, Boot, Erik1,2,11 erik.boot@sheerenloo.nl
Publikováno v:
Movement Disorders Clinical Practice. Jan2023, Vol. 10 Issue 1, p17-31. 15p.
Publikováno v:
Biochemical Society Transactions; Jun2024, Vol. 52 Issue 3, p1275-1291, 17p
Autor:
Rosh, Idan, Tripathi, Utkarsh, Hussein, Yara, Rike, Wote Amelo, Djamus, Jose, Shklyar, Boris, Manole, Andreea, Houlden, Henry, Winkler, Jurgen, Gage, Fred H., Stern, Shani
Publikováno v:
NPJ Parkinson's Disease; 2/19/2024, Vol. 10 Issue 1, p1-12, 12p
Autor:
Harrer, Philip, Škorvánek, Matej, Kittke, Volker, Dzinovic, Ivana, Borngräber, Friederike, Thomsen, Mirja, Mandel, Vanessa, Svorenova, Tatiana, Ostrozovicova, Miriam, Kulcsarova, Kristina, Berutti, Riccardo, Busch, Hauke, Ott, Fabian, Kopajtich, Robert, Prokisch, Holger, Kumar, Kishore R., Mencacci, Niccolo E., Kurian, Manju A., Di Fonzo, Alessio, Boesch, Sylvia
Publikováno v:
Movement Disorders; Oct2023, Vol. 38 Issue 10, p1914-1924, 11p
Autor:
Arganbright J; Division of Pediatric Otolaryngology, Children's Mercy Hospital, Kansas, Missouri, U.S.A.; University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A., Crowley TB; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A., Tracy M; Division of Pediatric Otolaryngology, Children's Mercy Hospital, Kansas, Missouri, U.S.A., Noel-MacDonnell J; University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A.; Health Services and Outcomes Research, Children's Mercy Hospital, Kansas, Missouri, U.S.A., Gaiser K; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A., Yaktine L; Division of Hearing and Speech, Children's Mercy Hospital, Kansas, Missouri, U.S.A., Moore A; Division of Hearing and Speech, Children's Mercy Hospital, Kansas, Missouri, U.S.A., Hamm J; Division of Hearing and Speech, Children's Mercy Hospital, Kansas, Missouri, U.S.A., Morrow B; Albert Einstein Collect of Medicine, Bronx, New York, U.S.A., Song H; Albert Einstein Collect of Medicine, Bronx, New York, U.S.A., Giunta V; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A., McGinn DE; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A., Zackai EH; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A., Emanuel B; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A., Elden L; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Surgery, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.; Division of Otolaryngology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A., Narayanan S; University of Missouri-Kansas City School of Medicine, Kansas, Missouri, U.S.A., Raje N; Division of Pediatric Allergy, Asthma, & Immunology, Children's Mercy Hospital, Kansas, Missouri, U.S.A., McDonald-McGinn DM; 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.; Division of Human Biology and Medical Genetics, Sapienza, University, Rome, Italy.
Publikováno v:
The Laryngoscope [Laryngoscope] 2024 Sep 21. Date of Electronic Publication: 2024 Sep 21.
Autor:
Therese van Amelsvoort, Michiel L. Houben, Emy S. van der Valk Bouman, Erik Boot, Myrthe A. Nuijts, Emma N. M. M. von Scheibler, Pit Vermeltfoort, Tos T. J. M. Berendschot, Levinus A. Bok, Agnies M. van Eeghen, Noël J.C. Bauer, Michelle B. van Egmond-Ebbeling
Publikováno v:
American Journal of Medical Genetics, Part A, 188(2), 569-578. Wiley-Liss Inc.
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556
The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech- and language delay, intellectual disability, and neurop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9816f5a3fea1d45a2c185c0f867986
https://doi.org/10.1002/ajmg.a.62556
https://doi.org/10.1002/ajmg.a.62556
Autor:
Emma N. M. M. von Scheibler, Thérèse A. M. J. van Amelsvoort, Claudia Vingerhoets, Agnies M. van Eeghen, Erik Boot
Publikováno v:
von Scheibler, E N M M, van Amelsvoort, T A M J, Vingerhoets, C, van Eeghen, A M & Boot, E 2022, ' Post-traumatic stress in adults with 22q11.2 deletion syndrome ', BJPSYCH OPEN, vol. 8, no. 4, e126 . https://doi.org/10.1192/bjo.2022.525
BJPSYCH OPEN, 8(4):e126. Cambridge University Press
BJPsych open, 8(4):e126. Cambridge University Press
Bjpsych open, 8(4):126. Cambridge University Press
BJPSYCH OPEN, 8(4):e126. Cambridge University Press
BJPsych open, 8(4):e126. Cambridge University Press
Bjpsych open, 8(4):126. Cambridge University Press
22q11.2 deletion syndrome (22q11.2DS) is associated with an elevated genetic risk of several psychiatric disorders. However, the prevalence of post-traumatic stress disorder (PTSD) in individuals with 22q11.2DS has been reported to be only 0.9%; this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d873441df0db708e22980a83bdc8e0
http://www.scopus.com/inward/record.url?scp=85133847836&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85133847836&partnerID=8YFLogxK