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De novo variants in <italic>CDK13</italic> associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
Published in:
Clinical Genetics, 2018, v. 93, n. 5, p. 1000, doi. 10.1111/cge.13225
By:
- van den Akker, W. M. R.;
- Brummelman, I.;
- Martis, L. M.;
- Timmermans, R. N.;
- Pfundt, R.;
- Kleefstra, T.;
- Willemsen, M. H.;
- de Vries, B. B. A.;
- Schuurs‐Hoeijmakers, J. H. M.;
- Gerkes, E. H.;
- Herkert, J. C.;
- van Essen, A. J.;
- Rump, P.;
- Vansenne, F.;
- Terhal, P. A.;
- van Gassen, K. L. I.;
- van Haelst, M. M.;
- Cristian, I.;
- Turner, C. E.;
- Cho, M. T.
Publication type:
Article
De novo variants in <italic>KLF7</italic> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Published in:
Clinical Genetics, 2018, v. 93, n. 5, p. 1030, doi. 10.1111/cge.13198
By:
- Powis, Z.;
- Petrik, I.;
- Huether, R.;
- Tang, S.;
- Shinde, D. N.;
- Cohen, J. S.;
- Escolar, D.;
- Burton, J.;
- van Ravenswaaij‐Arts, C. M. A.;
- Sival, D. A.;
- Kleefstra, T.;
- Pfundt, R.;
- Stegmann, A. P. A.;
- Chikarmane, R.;
- Begtrup, A.
Publication type:
Article
Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Published in:
Clinical Genetics, 2018, v. 93, n. 4, p. 880, doi. 10.1111/cge.13196
By:
- Chiu, A. T. G.;
- Pei, S. L. C.;
- Mak, C. C. Y.;
- Leung, G. K. C.;
- Yu, M. H. C.;
- Lee, S. L.;
- Vreeburg, M.;
- Pfundt, R.;
- Van Der Burgt, I.;
- Kleefstra, T.;
- Frederic, T.M.‐t.;
- Nambot, S.;
- Faivre, L.;
- Bruel, A.‐l.;
- Rossi, M.;
- Isidor, B.;
- Küry, S.;
- Cogne, B.;
- Besnard, T.;
- Willems, M.
Publication type:
Article
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Published in:
Clinical Genetics, 2016, v. 90, n. 5, p. 413, doi. 10.1111/cge.12729
By:
- Jansen, S.;
- Kleefstra, T.;
- Willemsen, M.H.;
- Vries, P.;
- Pfundt, R.;
- Hehir‐Kwa, J.Y.;
- Gilissen, C.;
- Veltman, J.A.;
- Vries, B.B.A.;
- Vissers, L.E.L.M.
Publication type:
Article
The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Published in:
Clinical Genetics, 2016, v. 89, n. 6, p. 733, doi. 10.1111/cge.12769
By:
- Schönewolf‐Greulich, B.;
- Tejada, M.‐I.;
- Stephens, K.;
- Hadzsiev, K.;
- Gauthier, J.;
- Brøndum‐Nielsen, K.;
- Pfundt, R.;
- Ravn, K.;
- Maortua, H.;
- Gener, B.;
- Martínez‐Bouzas, C.;
- Piton, A.;
- Rouleau, G.;
- Clayton‐Smith, J.;
- Kleefstra, T.;
- Bisgaard, A.‐M.;
- Tümer, Z.
Publication type:
Article
Pathogenic or not? Assessing the clinical relevance of copy number variants.
Published in:
Clinical Genetics, 2013, v. 84, n. 5, p. 415, doi. 10.1111/cge.12242
By:
- Hehir‐Kwa, JY;
- Pfundt, R;
- Veltman, JA;
- de Leeuw, N
Publication type:
Article
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 507, doi. 10.1111/j.1399-0004.2009.01349.x
By:
- Drijvers, J. M.;
- Lefeber, D. J.;
- de Munnik, S. A.;
- Pfundt, R.;
- van de Leeuw, N.;
- Marcelis, C.;
- Thiel, C.;
- Koerner, C.;
- Wevers, R. A.;
- Morava1, E.
Publication type:
Article
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Published in:
Clinical Genetics, 2008, v. 74, n. 6, p. 531, doi. 10.1111/j.1399-0004.2008.01086.x
By:
- Gervasini, C.;
- Pfundt, R.;
- Castronovo, P.;
- Russo, S.;
- Roversi, G.;
- Masciadri, M.;
- Milani, D.;
- Zampino, G.;
- Selicorni, A.;
- Schoenmakers, E. F. P. M.;
- Larizza, L.
Publication type:
Article
Pure subtelomeric microduplications as a cause of mental retardation.
Published in:
Clinical Genetics, 2007, v. 72, n. 4, p. 362, doi. 10.1111/j.1399-0004.2007.00874.x
By:
- Ruiter, E. M.;
- Koolen, D. A.;
- Kleefstra, T.;
- Nillesen, W. M.;
- Pfundt, R.;
- de Leeuw, N.;
- Hamel, B. C. J.;
- Brunner, H. G.;
- Sistermans, E. A.;
- de Vries, B. B. A.
Publication type:
Article
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.
Published in:
2012
By:
- Nicolaou N;
- Margadant C;
- Kevelam SH;
- Lilien MR;
- Oosterveld MJ;
- Kreft M;
- van Eerde AM;
- Pfundt R;
- Terhal PA;
- van der Zwaag B;
- Nikkels PG;
- Sachs N;
- Goldschmeding R;
- Knoers NV;
- Renkema KY;
- Sonnenberg A;
- Nicolaou, Nayia;
- Margadant, Coert;
- Kevelam, Sietske H;
- Lilien, Marc R
Publication type:
journal article
W01-01 - From karyotype to targeted microarray
Published in:
2012
By:
- Feenstra, I.;
- Van Bon, B.W.;
- Koolen, D.A.;
- Pfundt, R.;
- Kleefstra, T.;
- De Leeuw, N.
Publication type:
Abstract
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.
Published in:
2007
By:
- Vermeer S;
- Koolen DA;
- Visser G;
- Brackel HJ;
- van der Burgt I;
- de Leeuw N;
- Willemsen MA;
- Sistermans EA;
- Pfundt R;
- de Vries BB
Publication type:
Journal Article
TNF-α and serum induce SKALP/elafin gene expression in human keratinocytes by a p38 MAP kinase-dependent pathway.
Published in:
Archives of Dermatological Research, 2000, v. 292, n. 4, p. 180, doi. 10.1007/s004030050475
By:
- Pfundt, R.;
- Wingens, M.;
- Bergers, M.;
- Zweers, M.;
- Frenken, M.;
- Schalkwijk, J.
Publication type:
Article
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Published in:
Human Genetics, 2017, v. 136, n. 2, p. 179, doi. 10.1007/s00439-016-1743-x
By:
- Bramswig, Nuria;
- Lüdecke, H.-J.;
- Pettersson, M.;
- Albrecht, B.;
- Bernier, R.;
- Cremer, K.;
- Eichler, E.;
- Falkenstein, D.;
- Gerdts, J.;
- Jansen, S.;
- Kuechler, A.;
- Kvarnung, M.;
- Lindstrand, A.;
- Nilsson, D.;
- Nordgren, A.;
- Pfundt, R.;
- Spruijt, L.;
- Surowy, H.;
- Vries, B.;
- Wieland, T.
Publication type:
Article
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Published in:
Human Genetics, 2015, v. 134, n. 10, p. 1089, doi. 10.1007/s00439-015-1590-1
By:
- Bramswig, Nuria;
- Ockeloen, C.;
- Czeschik, J.;
- Essen, A.;
- Pfundt, R.;
- Smeitink, J.;
- Poll-The, B.;
- Engels, H.;
- Strom, T.;
- Wieczorek, D.;
- Kleefstra, T.;
- Lüdecke, H.-J.
Publication type:
Article
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Published in:
Human Genetics, 2007, v. 121, n. 6, p. 697, doi. 10.1007/s00439-007-0359-6
By:
- Vissers, L. E. L. M.;
- Stankiewicz, P.;
- Yatsenko, S. A.;
- Crawford, E.;
- Creswick, H.;
- Proud, V. K.;
- de Vries, B. B. A.;
- Pfundt, R.;
- Marcelis, C. L. M.;
- Zackowski, J.;
- Bi, W.;
- van Kessel, A. Guerst;
- Lupski, J. R.;
- Veltman, J. A.
Publication type:
Article
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines.
Published in:
Oncogene, 2006, v. 25, n. 10, p. 1571, doi. 10.1038/sj.onc.1209177
By:
- Roversi, G.;
- Pfundt, R.;
- Moroni, R. F.;
- Magnani, I.;
- van Reijmersdal, S.;
- Pollo, B.;
- Straatman, H.;
- Larizza, L.;
- Schoenmakers, E. F. P. M.
Publication type:
Article
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00933-6
By:
- Reijnders, M. R. F.;
- Kousi, M.;
- van Woerden, G. M.;
- Klein, M.;
- Bralten, J.;
- Mancini, G. M. S.;
- Essen, T. van;
- Proietti-Onori, M.;
- Smeets, E. E. J.;
- Gastel, M. van;
- Stegmann, A. P. A.;
- Stevens, S. J. C.;
- Lelieveld, S. H.;
- Gilissen, C.;
- Pfundt, R.;
- Tan, P. L.;
- Kleefstra, T.;
- Franke, B.;
- Elgersma, Y.;
- Katsanis, N.
Publication type:
Article
Targeted disruption of the synovial sarcoma-associated SS18 gene causes early embryonic lethality and affects PPARBP expression.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 19, p. 2936, doi. 10.1093/hmg/ddl235
By:
- de Bruijn, D.R.H.;
- Peters, W.J.M.;
- Chuva de Sousa Lopes, S.M.;
- van Dijk, A.H.A.;
- Willemse, M.P.;
- Pfundt, R.;
- de Boer, P.;
- Geurts van Kessel, A.
Publication type:
Article
SNP Array Analysis in Constitutional and Cancer Genome Diagnostics - Copy Number Variants, Genotyping and Quality Control.
Published in:
Cytogenetic & Genome Research, 2011, v. 135, n. 3/4, p. 212, doi. 10.1159/000331273
By:
- de Leeuw, N.;
- Hehir-Kwa, J.Y.;
- Simons, A.;
- Geurts van Kessel, A.;
- Smeets, D.F.;
- Faas, B.H.W.;
- Pfundt, R.
Publication type:
Article
Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.
Published in:
Molecular Syndromology, 2010, v. 1, n. 1, p. 46, doi. 10.1159/000280290
By:
- de Bruijn, D.R.H.;
- van Dijk, A.H.A.;
- Pfundt, R.;
- Hoischen, A.;
- Merkx, G.F.M.;
- Gradek, G.A.;
- Lybæk, H.;
- Stray-Pedersen, A.;
- Brunner, H.G.;
- Houge, G.
Publication type:
Article

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