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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Published in:
2021
By:
- Ghaleb, Yousra El;
- Schneeberger, Pauline E;
- Fernández-Quintero, Monica L;
- Geisler, Stefanie M;
- Pelizzari, Simone;
- Polstra, Abeltje M;
- Hagen, Johanna M van;
- Denecke, Jonas;
- Campiglio, Marta;
- Liedl, Klaus R;
- Stevens, Cathy A;
- Person, Richard E;
- Rentas, Stefan;
- Marsh, Eric D;
- Conlin, Laura K;
- Tuluc, Petronel;
- Kutsche, Kerstin;
- Flucher, Bernhard E;
- El Ghaleb, Yousra;
- van Hagen, Johanna M
Publication type:
journal article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
By:
- Vos, Niels;
- Haghshenas, Sadegheh;
- van der Laan, Liselot;
- Russel, Perle K. M.;
- Rooney, Kathleen;
- Levy, Michael A.;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Maas, Saskia M.;
- Vissers, Lisenka E. L. M.;
- de Vries, Bert B. A.;
- Pfundt, Rolph;
- Elting, Mariet W.;
- van Hagen, Johanna M.;
- Verbeek, Nienke E.;
- Jongmans, Marjolijn C. J.;
- Lakeman, Phillis;
- Rumping, Lynne;
- Bosch, Danielle G. M.
Publication type:
Article
Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1972, doi. 10.1002/ajmg.a.37150
By:
- Paes, Emma C.;
- van Nunen, Daan P. F.;
- Basart, Hanneke;
- Don Griot, J. Peter W.;
- van Hagen, Johanna M.;
- van der Horst, Chantal M. A. M.;
- van den Boogaard, Marie‐José H.;
- Breugem, Corstiaan C.
Publication type:
Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
By:
- Basart, Hanneke;
- Paes, Emma C.;
- Maas, Saskia M.;
- van den Boogaard, Marie‐Jose H.;
- van Hagen, Johanna M.;
- Breugem, Corstiaan C.;
- Cobben, Jan Maarten;
- Don Griot, J. Peter W.;
- Lachmeijer, Augusta M. A.;
- Lichtenbelt, Klaske D.;
- van Nunen, Daan P. F.;
- van der Horst, Chantal M.;
- Hennekam, Raoul C.
Publication type:
Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients.
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0031327
By:
- Eerde, Albertien M. van;
- Duran, Karen;
- Riel, Els van;
- Kovel, Carolien G. F. de;
- Koeleman, Bobby P. C.;
- Knoers, Nine V. A. M.;
- Renkema, Kirsten Y.;
- van der Horst, Henricus J. R;
- Bökenkamp, Arend;
- van Hagen, Johanna M.;
- van den Berg, Leonard H.;
- Wolffenbuttel, Katja P.;
- van den Hoek, Joop;
- Feitz, Wouter F.;
- de Jong, Tom P. V. M.;
- Giltay, Jacques C.;
- Wijmenga, Cisca
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
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
Segregation ratio in cranio-cerebello-cardiac syndrome.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 9, p. 1054, doi. 10.1038/sj.ejhg.5201660
By:
- Stellingwerff, Harm-Jan;
- van Hagen, Johanna M.;
- ten Kate, Leo P.
Publication type:
Article
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Published in:
Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
By:
- Rots, Dmitrijs;
- Rooney, Kathleen;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Pfundt, Rolph;
- Marcelis, Carlo;
- Willemsen, Marjolein H.;
- van Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Alders, Marielle;
- Õunap, Katrin;
- Reimand, Tiia;
- Fjodorova, Olga;
- Berland, Siren;
- Liahjell, Eva Benedicte;
- Bojovic, Ognjen;
- Kriek, Marjolein;
- Ruivenkamp, Claudia;
- Bonati, Maria Teresa
Publication type:
Article
Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy.
Published in:
Journal of Investigative Dermatology, 2005, v. 125, n. 5, p. 913, doi. 10.1111/j.0022-202X.2005.23846.x
By:
- Moulson, Casey L.;
- Go, Gloriosa;
- Gardner, Jennifer M.;
- van der Wal, Allard C.;
- Smitt, J. Henk Sillevis;
- van Hagen, Johanna M.;
- Miner, Jeffrey H.
Publication type:
Article
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
Published in:
Pediatric Nephrology, 2005, v. 20, n. 12, p. 1724, doi. 10.1007/s00467-005-2047-x
By:
- Bökenkamp, Arend;
- deJong, Miranda;
- van Wijk, Joanna A. E.;
- Block, Diana;
- van Hagen, Johanna M.;
- Ludwig, Michael
Publication type:
Article
Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.
Published in:
Clinical Nephrology, 2012, v. 78, n. 6, p. 492, doi. 10.5414/CN107206
By:
- Westland, Rik;
- Hack, Wilfried W.;
- van der Horst, Henricus J. R.;
- Uittenbogaard, Lukas B.;
- van Hagen, Johanna M.;
- van der Valk, Paul;
- Kamsteeg, Erik J.;
- van den Heuvel, Lambert P.;
- van Wijk, Joanna A. E.
Publication type:
Article
De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541
By:
- Stevens, Servi J. C.;
- van der Schoot, Vyne;
- Leduc, Magalie S.;
- Rinne, Tuula;
- Lalani, Seema R.;
- Weiss, Marjan M.;
- van Hagen, Johanna M.;
- Lachmeijer, Augusta M. A.;
- CAUSES Study;
- Stockler‐Ipsiroglu, Sylvia G.;
- Lehman, Anna;
- Brunner, Han G.
Publication type:
Article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
By:
- Overwater, Eline;
- Marsili, Luisa;
- Baars, Marieke J. H.;
- Baas, Annette F.;
- van de Beek, Irma;
- Dulfer, Eelco;
- van Hagen, Johanna M.;
- Hilhorst‐Hofstee, Yvonne;
- Kempers, Marlies;
- Krapels, Ingrid P.;
- Menke, Leonie A.;
- Verhagen, Judith M. A.;
- Yeung, Kak K.;
- Zwijnenburg, Petra J. G.;
- Groenink, Maarten;
- van Rijn, Peter;
- Weiss, Marjan M.;
- Voorhoeve, Els;
- van Tintelen, J. Peter;
- Houweling, Arjan C.
Publication type:
Article

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