Výsledky vyhledávání - "Marielle E M, Swinkels"

Mutations in GABRB3

Publikováno v: Møller, R S, Wuttke, T V, Helbig, I, Marini, C, Johannesen, K M, Brilstra, E H, Vaher, U, Borggraefe, I, Talvik, I, Talvik, T, Kluger, G, Francois, L L, Lesca, G, de Bellescize, J, Blichfeldt, S, Chatron, N, Holert, N, Jacobs, J, Swinkels, M E M, Betzler, C, Syrbe, S, Nikanorova, M, Myers, C T, Larsen, L H G, Vejzovic, S, Pendziwiat, M, von Spiczak, S, Hopkins, S, Dubbs, H, Mang, Y, Mukhin, K, Holthausen, H, van Gassen, K L, Dahl, H A, Tommerup, N, Mefford, H C, Rubboli, G, Guerrini, R, Lemke, J R, Lerche, H, Muhle, H & Maljevic, S 2017, ' Mutations in GABRB3 : From febrile seizures to epileptic encephalopathies ', Neurology, vol. 88, no. 5, pp. 483-492 . https://doi.org/10.1212/WNL.0000000000003565

Objective:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.Meth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e1555894ba8013eef4f67b8c11cfa96
https://doi.org/10.1212/wnl.0000000000003565

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Loss-of-function variants of

Autor: Jacy L, Wagnon, Bryan S, Barker, Matteo, Ottolini, Young, Park, Alicia, Volkheimer, Purnima, Valdez, Marielle E M, Swinkels, Manoj K, Patel, Miriam H, Meisler

Publikováno v: Neurology: Genetics

Objective: To determine the functional effect of SCN8A missense mutations in 2 children with intellectual disability and developmental delay but no seizures. Methods: Genomic DNA was analyzed by next-generation sequencing. SCN8A variants were introdu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::02b61dcf8dea6763479b0a070342c2ff
https://pubmed.ncbi.nlm.nih.gov/28702509

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Unstable transmission of a familial complex chromosome rearrangement

Autor: Ellen van Binsbergen, Jacques C. Giltay, Marielle E M Swinkels, Ron Hochstenbach

Publikováno v: American Journal of Medical Genetics Part A. :2888-2893

Complex chromosome rearrangements (CCRs) are rare genomic structural aberrations involving three or more breakpoints on two or more chromosomes. About one-third of all CCRs are familial. Transmittance of such a CCR results either in genomic imbalance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02d3b58d1db2216e51826bc95e8c4f5
https://doi.org/10.1002/ajmg.a.35580

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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Autor: Christine Hall, Paulien A Terhal, Lionel Van Maldergem, Ruth Newbury-Ecob, Petra J. G. Zwijnenburg, Louise C. Wilson, Philip Rich, Sahar Mansour, Marielle E M Swinkels, Stephen P. Robertson

Publikováno v: Mansour, S, Swinkels, M, Terhal, P A, Wilson, L C, Rich, P, van Maldergem, L, Zwijnenburg, P J G, Hall, C M, Robertson, S P & Newbury-Ecob, R 2012, ' Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance ', European Journal of Human Genetics, vol. 20, no. 10, pp. 1024-1031 . https://doi.org/10.1038/ejhg.2012.57
European Journal of Human Genetics, 20(10), 1024-1031. Nature Publishing Group

We present six patients from five unrelated families with a condition originally described by Van Maldergem et al and provide follow-up studies of the original patient. The phenotype comprises a distinctive facial appearance that includes blepharophi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2398caeafa0830f41caab715ea646c7
https://doi.org/10.1038/ejhg.2012.57

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Autor: Marloes Steehouwer, Joris A. Veltman, Marielle E M Swinkels, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Christian Gilissen, Bert B.A. de Vries, Hans van Bokhoven, Nicholas Katsanis, Han G. Brunner, Arjan P.M. de Brouwer, Koenraad Devriendt, Maureen Holvoet, Edwin C. Oh, Janneke H M Schuurs-Hoeijmakers

Publikováno v: American Journal of Human Genetics, 91, 1122-7
American Journal of Human Genetics, 91, 6, pp. 1122-7

Item does not contain fulltext We studied two unrelated boys with intellectual disability (ID) and a striking facial resemblance suggestive of a hitherto unappreciated syndrome. Exome sequencing in both families identified identical de novo mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8748ee2969ed6cff91c68bb1478ed8d
https://hdl.handle.net/2066/109307

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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Publikováno v: European journal of human genetics, 22(5), 652-659. Nature Publishing Group
European journal of human genetics
European Journal of Human Genetics, 22(5), 652-9. Nature Publishing Group
Vergult, S, Van Binsbergen, E, Sante, T, Nowak, S, Vanakker, O, Claes, K, Poppe, B, Van der Aa, N, van Roosmalen, M J, Duran, K, Tavakoli-Yaraki, M, Swinkels, M, van den Boogaard, M-J, van Haelst, M, Roelens, F, Speleman, F, Cuppen, E, Mortier, G, Kloosterman, W P & Menten, B 2014, ' Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations ', European Journal of Human Genetics, vol. 22, no. 5, pp. 652-9 . https://doi.org/10.1038/ejhg.2013.220

Recently, microarrays have replaced karyotyping as a first tier test in patients with idiopathic intellectual disability and/or multiple congenital abnormalities (ID/MCA) in many laboratories. Although in about 14-18% of such patients, DNA copy-numbe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d634159ad2ef7c0d38275ac1a901f9e8
https://pure.amc.nl/en/publications/mate-pair-sequencing-for-the-detection-of-chromosomal-aberrations-in-patients-with-intellectual-disability-and-congenital-malformations(3b5e8830-4ec0-4ca9-ab42-c6a800c0463f).html

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Central 22q11.2 deletions

Autor: Sonja A. de Munnik, Claudia A. L. Ruivenkamp, Dorit Lev, Birgit Sikkema-Raddatz, Willie Reardon, Conny M. A. van Ravenswaaij-Arts, Marielle E M Swinkels, Mariken Ruiter, Hermine E. Veenstra-Knol, Ayala Frumkin, Corien C. Verschuuren-Bemelmans, Trijnie Dijkhuizen, Nicole de Leeuw, Christina Evers, Anthonie J. van Essen, Patrick Rump, Wilma Oostdijk

Publikováno v: American Journal of Medical Genetics Part A, 164A(11), 2707-2723
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164(11), 2707-2723. Wiley
American Journal of Medical Genetics. Part A, 164A, 11, pp. 2707-23
American Journal of Medical Genetics. Part A, 164A, 2707-23

22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22-A and LCR22-D. Loss of the TBX1 gene is considered the most important cause of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7acccd3de37a1cc28036415628e3659
https://doi.org/10.1002/ajmg.a.36711

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Structural genomic variation in childhood epilepsies with complex phenotypes

Publikováno v: European Journal of Human Genetics, 22(7), 896-901
Helbig, I, Swinkels, M E M, Aten, E, Caliebe, A, van 't Slot, R, Boor, R, von Spiczak, S, Muhle, H, Jähn, J A, van Binsbergen, E, van Nieuwenhuizen, O, Jansen, F E, Braun, K P J, de Haan, G-J, Tommerup, N, Stephani, U, Hjalgrim, H, Poot, M, Lindhout, D, Brilstra, E H, Møller, R S & Koeleman, B P C 2014, ' Structural genomic variation in childhood epilepsies with complex phenotypes ', European Journal of Human Genetics, vol. 22, no. 7, pp. 896-901 . https://doi.org/10.1038/ejhg.2013.262

A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8d2cacfebce40d24c63c0d8383ee8b
https://pubmed.ncbi.nlm.nih.gov/24281369

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Publikováno v: Brain
de Kovel, C G F, Trucks, H, Helbig, I, Mefford, H C, Baker, C, Leu, C, Kluck, C, Muhle, H, von Spiczak, S, Ostertag, P, Obermeier, T, Kleefuss-Lie, A A, Hallmann, K, Steffens, M, Gaus, V, Klein, K M, Hamer, H M, Rosenow, F, Brilstra, E H, Trenité, D K-N, Swinkels, M E M, Weber, Y G, Unterberger, I, Zimprich, F, Urak, L, Feucht, M, Fuchs, K, Møller, R S, Hjalgrim, H, De Jonghe, P, Suls, A, Rückert, I-M, Wichmann, H-E, Franke, A, Schreiber, S, Nürnberg, P, Elger, C E, Lerche, H, Stephani, U, Koeleman, B P C, Lindhout, D, Eichler, E E & Sander, T 2010, ' Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies ', Brain, vol. 133, no. 1, pp. 23-32 . https://doi.org/10.1093/brain/awp262

Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e59e1afc2171326635e392e5ac108310
https://hdl.handle.net/10067/805340151162165141

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