Works matching AU Alders, Mariëlle

Results: 29
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    A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
    By:
    • van der Sluijs, Pleuntje J.;
    • Alders, Mariëlle;
    • Dingemans, Alexander J. M.;
    • Parbhoo, Kareesma;
    • van Bon, Bregje W.;
    • Dempsey, Jennifer C.;
    • Doherty, Dan;
    • den Dunnen, Johan T.;
    • Gerkes, Erica H.;
    • Milller, Ilana M.;
    • Moortgat, Stephanie;
    • Regier, Debra S.;
    • Ruivenkamp, Claudia A. L.;
    • Schmalz, Betsy;
    • Smol, Thomas;
    • Stuurman, Kyra E.;
    • Vincent-Delorme, Catherine;
    • de Vries, Bert B. A.;
    • Sadikovic, Bekim;
    • Hickey, Scott E.
    Publication type:
    Article
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    Intellectual Disability and Hemizygous GPD 2 Mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873
    By:
    • Barge‐Schaapveld, Daniela Q.C.M.;
    • Ofman, Rob;
    • Knegt, Alida C.;
    • Alders, Mariëlle;
    • Höhne, Wolfgang;
    • Kemp, Stephan;
    • Hennekam, Raoul C.M.
    Publication type:
    Article
    12

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    2019
    By:
    • Vaz, Frédéric M;
    • McDermott, John H;
    • Alders, Mariëlle;
    • Wortmann, Saskia B;
    • Kölker, Stefan;
    • Pras-Raves, Mia L;
    • Vervaart, Martin A T;
    • Lenthe, Henk van;
    • Luyf, Angela C M;
    • Elfrink, Hyung L;
    • Metcalfe, Kay;
    • Cuvertino, Sara;
    • Clayton, Peter E;
    • Yarwood, Rebecca;
    • Lowe, Martin P;
    • Lovell, Simon;
    • Rogers, Richard C;
    • Study, Deciphering Developmental Disorders;
    • Kampen, Antoine H C van;
    • Ruiter, Jos P N
    Publication type:
    journal article
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    Chromosomal region 11p15 is associated with male factor subfertility*.

    Published in:
    Molecular Human Reproduction, 2003, v. 9, n. 10, p. 587, doi. 10.1093/molehr/gag081
    By:
    • Gianotten, Judith;
    • van der Veen, Fulco;
    • Alders, Mariëlle;
    • Leschot, Nico J.;
    • Tanck, Michael W.T.;
    • Land, Jolande A.;
    • Kremer, Jan A.M.;
    • Hoefsloot, Lies H.;
    • Mannens, Marcel M.;
    • Lombardi, M. Paola;
    • Hoffer, Mariëtte J.V.
    Publication type:
    Article
    16

    Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32089
    By:
    • Sarli, Camilla;
    • van der Laan, Liselot;
    • Reilly, Jack;
    • Trajkova, Slavica;
    • Carli, Diana;
    • Brusco, Alfredo;
    • Levy, Michael A.;
    • Relator, Raissa;
    • Kerkhof, Jennifer;
    • McConkey, Haley;
    • Tedder, Matthew L.;
    • Skinner, Cindy;
    • Alders, Mariëlle;
    • Henneman, Peter;
    • Hennekam, Raoul C. M.;
    • Ciaccio, Claudia;
    • D'Arrigo, Stefano;
    • Vitobello, Antonio;
    • Faivre, Laurence;
    • Weber, Sacha
    Publication type:
    Article
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    Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
    By:
    • Albersen, Monique;
    • van der Beek, Samantha L.;
    • Dijkstra, Inge M. E.;
    • Alders, Mariëlle;
    • Barendsen, Rinse W.;
    • Bliek, Jet;
    • Boelen, Anita;
    • Ebberink, Merel S.;
    • Ferdinandusse, Sacha;
    • Goorden, Susan M. I.;
    • Heijboer, Annemieke C.;
    • Jansen, Mandy;
    • Jaspers, Yorrick R. J.;
    • Metgod, Ingrid;
    • Salomons, Gajja S.;
    • Vaz, Frédéric M.;
    • Verschoof‐Puite, Rendelien K.;
    • Visser, Wouter F.;
    • Dekkers, Eugènie;
    • Engelen, Marc
    Publication type:
    Article
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    How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
    By:
    • Wortmann, Saskia B.;
    • Oud, Machteld M.;
    • Alders, Mariëlle;
    • Coene, Karlien L. M.;
    • van der Crabben, Saskia N.;
    • Feichtinger, René G.;
    • Garanto, Alejandro;
    • Hoischen, Alex;
    • Langeveld, Mirjam;
    • Lefeber, Dirk;
    • Mayr, Johannes A.;
    • Ockeloen, Charlotte W.;
    • Prokisch, Holger;
    • Rodenburg, Richard;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michel A. A. P.;
    • Wolf, Nicole I.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
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    Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

    Published in:
    European Heart Journal, 2014, v. 35, n. 32, p. 2165, doi. 10.1093/eurheartj/ehu050
    By:
    • van Spaendonck-Zwarts, Karin Y.;
    • Posafalvi, Anna;
    • van den Berg, Maarten P.;
    • Hilfiker-Kleiner, Denise;
    • Bollen, Ilse A.E.;
    • Sliwa, Karen;
    • Alders, Mariëlle;
    • Almomani, Rowida;
    • van Langen, Irene M.;
    • van der Meer, Peter;
    • Sinke, Richard J.;
    • van der Velden, Jolanda;
    • Van Veldhuisen, Dirk J.;
    • van Tintelen, J. Peter;
    • Jongbloed, Jan D.H.
    Publication type:
    Article
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    Two Siblings With a CDKL5 Mutation.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 11, p. 1515, doi. 10.1177/0883073815573317
    By:
    • Hagebeuk, Eveline E. O.;
    • Marcelis, Carlo L.;
    • Alders, Mariëlle;
    • Kaspers, Ageeth;
    • de Weerd, Al W.
    Publication type:
    Article
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    Mutations in TBL1X Are Associated With Central Hypothyroidism.

    Published in:
    2016
    By:
    • Heinen, Charlotte A;
    • Losekoot, Monique;
    • Sun, Yu;
    • Watson, Peter J;
    • Fairall, Louise;
    • Joustra, Sjoerd D;
    • Zwaveling-Soonawala, Nitash;
    • Oostdijk, Wilma;
    • van den Akker, Erica L T;
    • Alders, Mariëlle;
    • Santen, Gijs W E;
    • van Rijn, Rick R;
    • Dreschler, Wouter A;
    • Surovtseva, Olga V;
    • Biermasz, Nienke R;
    • Hennekam, Raoul C;
    • Wit, Jan M;
    • Schwabe, John W R;
    • Boelen, Anita;
    • Fliers, Eric
    Publication type:
    journal article
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    Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
    By:
    • van der Laan, Liselot;
    • Rooney, Kathleen;
    • Haghshenas, Sadegheh;
    • Silva, Ananília;
    • McConkey, Haley;
    • Relator, Raissa;
    • Levy, Michael A.;
    • Valenzuela, Irene;
    • Trujillano, Laura;
    • Lasa-Aranzasti, Amaia;
    • Campos, Berta;
    • Castells, Neus;
    • Verberne, Eline A.;
    • Maas, Saskia;
    • Alders, Mariëlle;
    • Mannens, Marcel M. A. M.;
    • van Haelst, Mieke M.;
    • Sadikovic, Bekim;
    • Henneman, Peter
    Publication type:
    Article
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    Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13664, doi. 10.3390/ijms232213664
    By:
    • van der Laan, Liselot;
    • Rooney, Kathleen;
    • Alders, Mariëlle;
    • Relator, Raissa;
    • McConkey, Haley;
    • Kerkhof, Jennifer;
    • Levy, Michael A.;
    • Lauffer, Peter;
    • Aerden, Mio;
    • Theunis, Miel;
    • Legius, Eric;
    • Tedder, Matthew L.;
    • Vissers, Lisenka E. L. M.;
    • Koene, Saskia;
    • Ruivenkamp, Claudia;
    • Hoffer, Mariette J. V.;
    • Wieczorek, Dagmar;
    • Bramswig, Nuria C.;
    • Herget, Theresia;
    • González, Vanesa López
    Publication type:
    Article
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    DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
    By:
    • Verberne, Eline A.;
    • van der Laan, Liselot;
    • Haghshenas, Sadegheh;
    • Rooney, Kathleen;
    • Levy, Michael A.;
    • Alders, Mariëlle;
    • Maas, Saskia M.;
    • Jansen, Sandra;
    • Lieden, Agne;
    • Anderlid, Britt-Marie;
    • Rafael-Croes, Louise;
    • Campeau, Philippe M.;
    • Chaudhry, Ayeshah;
    • Koolen, David A.;
    • Pfundt, Rolph;
    • Hurst, Anna C. E.;
    • Tran-Mau-Them, Frederic;
    • Bruel, Ange-Line;
    • Lambert, Laetitia;
    • Isidor, Bertrand
    Publication type:
    Article
    26

    Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1815, doi. 10.3390/ijms23031815
    By:
    • Foroutan, Aidin;
    • Haghshenas, Sadegheh;
    • Bhai, Pratibha;
    • Levy, Michael A.;
    • Kerkhof, Jennifer;
    • McConkey, Haley;
    • Niceta, Marcello;
    • Ciolfi, Andrea;
    • Pedace, Lucia;
    • Miele, Evelina;
    • Genevieve, David;
    • Heide, Solveig;
    • Alders, Mariëlle;
    • Zampino, Giuseppe;
    • Merla, Giuseppe;
    • Fradin, Mélanie;
    • Bieth, Eric;
    • Bonneau, Dominique;
    • Dieterich, Klaus;
    • Fergelot, Patricia
    Publication type:
    Article
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