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Mindfulness-Based Stress Reduction in Pre-symptomatic Genetic Frontotemporal Dementia: A Pilot Study.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864391
By:
- Poos, Jackie M.;
- van den Berg, Esther;
- Papma, Janne M.;
- van der Tholen, Fleur C.;
- Seelaar, Harro;
- Donker Kaat, Laura;
- Kievit, J Anneke;
- Tibben, Aad;
- van Swieten, John C.;
- Jiskoot, Lize C.
Publication type:
Article
A Balanced Translocation Disrupting BCL2L10 and PNLDC1 Segregates With Affective Psychosis.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 3, p. 214, doi. 10.1002/ajmg.b.32465
By:
- Bouwkamp, Christian G.;
- Kievit, Anneke J. A.;
- Olgiati, Simone;
- Breedveld, Guido J.;
- Coesmans, Michiel;
- Bonifati, Vincenzo;
- Kushner, Steven A.
Publication type:
Article
Two novel cases expanding the phenotype of <italic>SETD2</italic>‐related overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1212, doi. 10.1002/ajmg.a.38666
By:
- van Rij, Maartje C.;
- Hollink, Iris H. I. M.;
- Terhal, Paulien Anna;
- Kant, Sarina G.;
- Ruivenkamp, Claudia;
- van Haeringen, Arie;
- Kievit, J. Anneke;
- van Belzen, Martine J.
Publication type:
Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
By:
- Dingemans, Alexander J. M.;
- Truijen, Kim M. G.;
- van de Ven, Sam;
- Bernier, Raphael;
- Bongers, Ernie M. H. F.;
- Bouman, Arjan;
- de Graaff – Herder, Laura;
- Eichler, Evan E.;
- Gerkes, Erica H.;
- De Geus, Christa M.;
- van Hagen, Johanna M.;
- Jansen, Philip R.;
- Kerkhof, Jennifer;
- Kievit, Anneke J. A.;
- Kleefstra, Tjitske;
- Maas, Saskia M.;
- de Man, Stella A.;
- McConkey, Haley;
- Patterson, Wesley G.;
- Dobson, Amy T.
Publication type:
Article
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 134, doi. 10.1038/ejhg.2011.155
By:
- Haasdijk, Remco A;
- Cheng, Caroline;
- Maat-Kievit, Anneke J;
- Duckers, Henricus J
Publication type:
Article
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
By:
- Van den Ouweland, Ans M. W.;
- Elfferich, Peter;
- Zonnenberg, Bernard A.;
- Arts, Willem F.;
- Kleefstra, Tjitske;
- Nellist, Mark D.;
- Millan, Jose M.;
- Withagen-Hermans, Caroline;
- Maat-Kievit, Anneke J. A.;
- Halley, Dicky J. J.
Publication type:
Article
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Published in:
2019
By:
- Nijmeijer, Stephanie C. M.;
- van den Born, L. Ingeborg;
- Kievit, Anneke J. A.;
- Stepien, Karolina M.;
- Langendonk, Janneke;
- Marchal, Jan Pieter;
- Roosing, Susanne;
- Wijburg, Frits A.;
- Wagenmakers, Margreet A. E. M.
Publication type:
journal article
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Published in:
2018
By:
- Seong, Eunju;
- Insolera, Ryan;
- Dulovic, Marija;
- Kamsteeg, Erik‐Jan;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Sandford, Erin;
- Li, Sheng;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Jewett, Tamison;
- Kievit, Anneke J. A.;
- Münchau, Alexander;
- Shakkottai, Vikram;
- Klein, Christine;
- Collins, Catherine A.;
- Lohmann, Katja;
- van de Warrenburg, Bart P.;
- Burmeister, Margit;
- Kamsteeg, Erik-Jan
Publication type:
journal article
Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1220, doi. 10.1002/mgg3.425
By:
- Stoof, Sara C. M.;
- Kersseboom, Rogier;
- Vries, Femke A. T.;
- Kruip, Marieke J. H. A.;
- Kievit, Anneke J. A.;
- Leebeek, Frank W. G.
Publication type:
Article
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 19, p. 3290, doi. 10.1093/hmg/ddac113
By:
- Haarman, Annechien E G;
- Thiadens, Alberta A H J;
- Tienhoven, Marianne van;
- Loudon, Sjoukje E;
- Klein, J E M M Annelies de;
- Brosens, Erwin;
- Polling, Jan Roelof;
- van der Schoot, Vyne;
- Bouman, Arjan;
- Kievit, Anneke J A;
- Hoefsloot, Lies H;
- Klaver, Caroline C W;
- Verhoeven, Virginie J M
Publication type:
Article
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
Published in:
Acta Neuropathologica, 2021, v. 142, n. 1, p. 117, doi. 10.1007/s00401-021-02313-3
By:
- Grochowska, Martyna M.;
- Carreras Mascaro, Ana;
- Boumeester, Valerie;
- Natale, Domenico;
- Breedveld, Guido J.;
- Geut, Hanneke;
- van Cappellen, Wiggert A.;
- Boon, Agnita J. W.;
- Kievit, Anneke J. A.;
- Sammler, Esther;
- Parchi, Piero;
- Cortelli, Pietro;
- Alessi, Dario R.;
- van de Berg, Wilma D. J.;
- Bonifati, Vincenzo;
- Mandemakers, Wim
Publication type:
Article
Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1486, doi. 10.1002/humu.22432
By:
- Rutten, Julie W.;
- Boon, Elles M.J.;
- Liem, Michael K.;
- Dauwerse, Johannes G.;
- Pont, Margot J.;
- Vollebregt, Ellen;
- Maat-Kievit, Anneke J.;
- Ginjaar, Hendrika B.;
- Lakeman, Phillis;
- Duinen, Sjoerd G.;
- Terwindt, Gisela M.;
- Lesnik Oberstein, Saskia A.J.
Publication type:
Article
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
Published in:
Movement Disorders, 2010, v. 25, n. 11, p. 1715, doi. 10.1002/mds.23248
By:
- Sas, Antonetta M.G.;
- Di Fonzo, Alessio;
- Bakker, Stef L.M.;
- Simons, Erik J.;
- Oostra, Ben A.;
- Maat-Kievit, Anneke J.;
- Boon, Agnita J.W.;
- Bonifati, Vincenzo
Publication type:
Article
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0155-4
By:
- Nellist, Mark;
- Brouwer, Rutger W. W.;
- Kockx, Christel E. M.;
- van Veghel-Plandsoen, Monique;
- Withagen-Hermans, Caroline;
- Prins-Bakker, Lida;
- Hoogeveen-Westerveld, Marianne;
- Mrsic, Alan;
- van den Berg, Mike M. P.;
- Koopmans, Anna E.;
- de Wit, Marie-Claire;
- Jansen, Floor E.;
- Maat-Kievit, Anneke J. A.;
- van den Ouweland, Ans;
- Halley, Dicky;
- de Klein, Annelies;
- van IJcken, Wilfred F. J.
Publication type:
Article

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