Works by Brunner, H. G.

Results: 26

Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-08495-0

By:

Wong, L. Y.;
Torfs, T.;
Vanherle, S. J. V.;
Janssen, J.;
Claes, G. R. F.;
Stroeks, S. L. V. M.;
Willemars, M. M. A.;
Schianchi, F.;
Kapsokalyvas, D.;
Weltjens, E.;
Swinnen, A.;
Strzelecka, A.;
Krapels, I. P. C.;
Heymans, S. R. B.;
Glatz, J.;
van den Wijngaard, A.;
Brunner, H. G.;
Broers, J.;
Luiken, J. F. P.;
Hoes, M. F.

Publication type:

Article

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases.

Published in:

Nucleic Acids Research, 2005, v. 33, n. suppl 2, p. w758, doi. 10.1093/nar/gki435

By:

van Driel, M. A.;
Cuelenaere, K.;
Kemmeren, P. P. C. W.;
Leunissen, J. A. M.;
Brunner, H. G.;
Vriend, Gert

Publication type:

Article

Homozygous mutation in <italic>ELMO2</italic> may cause Ramon syndrome.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 703, doi. 10.1111/cge.13166

By:

Mehawej, C.;
Hoischen, A.;
Farah, R. A.;
Marey, I.;
David, M.;
Stora, S.;
Lachlan, K.;
Brunner, H. G.;
Mégarbané, A.

Publication type:

Article

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 28, doi. 10.1038/sj.ejhg.5201947

By:

Morava, E.;
Lefeber, D. J.;
Urban, Z.;
de Meirleir, L.;
Meinecke, P.;
Kaesbach, G. Gillessen;
Sykut-Cegielska, J.;
Adamowicz, M.;
Salafsky, I.;
Ranells, J.;
Lemyre, E.;
van Reeuwijk, J.;
Brunner, H. G.;
Wevers, R. A.

Publication type:

Article

Probing the Gene eXpression Database for candidate genes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 910, doi. 10.1038/sj.ejhg.5200405

By:

Steensel, Maurice AM van;
Celli, J;
van Bokhoven, J H;
Brunner, H G

Publication type:

Article

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

Published in:

2007

By:

Overbeek, L. I. H.;
Kets, C. M.;
Hebeda, K. M.;
Bodmer, D.;
der Looij, E. van;
Willems, R.;
Goossens, M.;
Arts, N.;
Brunner, H. G.;
van Krieken, J. H. J. M.;
Hoogerbrugge, N.;
Ligtenberg, M. J. L.;
van der Looij, E

Publication type:

journal article

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

Published in:

2006

By:

Kets, C. M.;
van Krieken, J. H. J. M.;
Hebeda, K. M.;
Wezenberg, S. J.;
Goossens, M.;
Brunner, H. G.;
Ligtenberg, M. J. L.;
Hoogerbrugge, N.

Publication type:

journal article

Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene.

Published in:

Clinical Endocrinology, 2002, v. 56, n. 1, p. 103, doi. 10.1046/j.0300-0664.2001.01437.x

By:

Richter-Unruh, A;
Martens, J. W. M;
Verhoef-Post, M;
Wessels, H. T;
Kors, W. A;
Sinnecker, G. H. G;
Boehmer, A;
Drop, S. L. S;
Toledo, S. P. A;
Brunner, H. G;
Themmen, A. P. N

Publication type:

Article

Neo-oval window technique and myringo-chorda-vestibulopexy in the BOR syndrome.

Published in:

Laryngoscope, 1993, v. 103, n. 10, p. 1186, doi. 10.1288/00005537-199310000-00021

By:

Cremers, C. W. R. J.;
Marres, H. A. M.;
Brunner, H. G.

Publication type:

Article

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

Published in:

2010

By:

Friedman, J I;
Vrijenhoek, T;
Markx, S;
Janssen, I M;
van der Vliet, W A;
Faas, B H W;
Knoers, N V;
Cahn, W;
Kahn, R S;
Edelmann, L;
Davis, K L;
Silverman, J M;
Brunner, H G;
Geurts van Kessel, A;
Wijmenga, C;
Ophoff, R A;
Veltman, J A

Publication type:

Correction Notice

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

Published in:

Molecular Psychiatry, 2008, v. 13, n. 3, p. 261, doi. 10.1038/sj.mp.4002049

By:

Friedman, J. I.;
Vrijenhoek, T.;
Markx, S.;
Janssen, I. M.;
van der Vliet, W. A.;
Faas, B. H. W.;
Knoers, N. V.;
Cahn, W.;
Kahn, R. S.;
Edelmann, L.;
Davis, K. L.;
Silverman, J. M.;
Brunner, H. G.;
van Kessel, A. Geurts;
Wijmenga, C.;
Ophoff, R. A.;
Veltman, J. A.

Publication type:

Article

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Published in:

Clinical Genetics, 2011, v. 80, n. 1, p. 31, doi. 10.1111/j.1399-0004.2010.01607.x

By:

Willemsen, M. H.;
Beunders, G.;
Callaghan, M.;
de Leeuw, N.;
Nillesen, W. M.;
Yntema, H. G.;
van Hagen, J. M.;
Nieuwint, A. W. M.;
Morrison, N.;
Keijzers-Vloet, S. T. M.;
Hoischen, A.;
Brunner, H. G.;
Tolmie, J.;
Kleefstra, T.

Publication type:

Article

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 296, doi. 10.1111/j.1399-0004.2010.01544.x

By:

van Bon, B. W. M.;
Hoischen, A.;
Hehir-Kwa, J.;
de Brouwer, A. P. M.;
Ruivenkamp, C.;
Gijsbers, A. C. J.;
Marcelis, C. L.;
de Leeuw, N.;
Veltman, J. A.;
Brunner, H. G.;
de Vries, B. B. A.

Publication type:

Article

A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 275, doi. 10.1111/j.1399-0004.2010.01384.x

By:

van Reeuwijk, J.;
Olderode-Berends, M. J. W.;
van den Elzen, C.;
Brouwer, O. F.;
Roscioli, T.;
van Pampus, M. G.;
Scheffer, H.;
Brunner, H. G.;
van Bokhoven, H.;
Hol, F. A.

Publication type:

Article

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

Published in:

Clinical Genetics, 2010, v. 77, n. 4, p. 404, doi. 10.1111/j.1399-0004.2009.01355.x

By:

Mazzeu, J. F.;
Vianna-Morgante, A. M.;
Krepischi, A. C. V.;
Oudakker, A.;
Rosenberg, C.;
Szuhai, K.;
McGill, J.;
MacCraughan, J.;
van Bokhoven, H.;
Brunner, H. G.

Publication type:

Article

Dominant versus recessive traits conveyed by allelic mutations – to what extent is nonsense-mediated decay involved?

Published in:

Clinical Genetics, 2009, v. 75, n. 4, p. 394, doi. 10.1111/j.1399-0004.2008.01114.x

By:

Ben-Shachar, S.;
Khajavi, M.;
Withers, M. A.;
Shaw, C. A.;
van Bokhoven, H.;
Brunner, H. G.;
Lupski, J. R.

Publication type:

Article

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 65, doi. 10.1111/j.1399-0004.2008.01107.x

By:

Jongmans, M. C. J.;
van Ravenswaaij-Arts, C. M. A.;
Pitteloud, N.;
Ogata, T.;
Sato, N.;
Claahsen-van der Grinten, H. L.;
van der Donk, K.;
Seminara, S.;
Bergman, J. E. H.;
Brunner, H. G.;
Crowley Jr., W. F.;
Hoefsloot, L. H.

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

The modular nature of genetic diseases.

Published in:

Clinical Genetics, 2007, v. 71, n. 1, p. 1, doi. 10.1111/j.1399-0004.2006.00708.x

By:

Oti, M.;
Brunner, H. G.

Publication type:

Article

Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2506, doi. 10.1210/jcem.87.6.8523

By:

MARTENS, J. W. M.;
LUMBROSO, S.;
VERHOEF-POST, M.;
GEORGET, V.;
RICHTER-UNRUH, A.;
SZARRAS-CZAPNIK, M.;
ROMER, T. E.;
BRUNNER, H. G.;
THEMMEN, A. P. N.;
SULTAN, CH.

Publication type:

Article

Variation of CNV distribution in five different ethnic populations.

Published in:

Cytogenetic & Genome Research, 2007, v. 118, n. 1, p. 19, doi. 10.1159/000106437

By:

White, S. J.;
Vissers, L. E. L. M.;
Geurts van Kessel, A.;
de Menezes, R. X.;
Kalay, E.;
Lehesjoki, A. E.;
Giordano, P. C.;
van de Vosse, E.;
Breuning, M. H.;
Brunner, H. G.;
den Dunnen, J. T.;
Veltman, J. A.

Publication type:

Article

Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage.

Published in:

Cytogenetic & Genome Research, 2006, v. 115, n. 3/4, p. 231, doi. 10.1159/000095919

By:

Feenstra, I.;
Brunner, H. G.;
van Ravenswaaij, C. M. A.

Publication type:

Article

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4.

Published in:

Journal of Molecular Medicine, 2007, v. 85, n. 4, p. 397, doi. 10.1007/s00109-006-0136-3

By:

Kalay, E.;
Caylan, R.;
Kıroglu, A. F.;
Yasar, T.;
Collin, R. W. J.;
Heister, J. G. A.;
Oostrik, J.;
Cremers, C. W. R.;
Brunner, H. G.;
Karaguzel, A.;
Kremer, H.

Publication type:

Article

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 12, p. 1025, doi. 10.1007/s00109-005-0719-4

By:

Kalay, E.;
de Brouwer, A. P. M.;
Caylan, R.;
Nabuurs, S. B.;
Wollnik, B.;
Karaguzel, A.;
Heister, J. G. A. M.;
Erdol, H.;
Cremers, F. P. M.;
Cremers, C. W. R. J.;
Brunner, H. G.;
Kremer, H.

Publication type:

Article

Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene.

Published in:

1998

By:

Tuerlings, JHAM;
Ligtenberg, MJL;
Kremer, JAM;
Siers, M;
Meuleman, EJH;
Braat, DDHM;
Hoefsloot, LH;
Merkus, HMWM;
Brunner, HG;
Tuerlings, J H;
Ligtenberg, M J;
Kremer, J A;
Meuleman, E J;
Braat, D D;
Hoefsloot, L H;
Merkus, H M;
Brunner, H G

Publication type:

journal article

A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.

Published in:

Genes, Brain & Behavior, 2014, v. 13, n. 7, p. 675, doi. 10.1111/gbb.12157

By:

Cai, D.‐C.;
Fonteijn, H.;
Guadalupe, T.;
Zwiers, M.;
Wittfeld, K.;
Teumer, A.;
Hoogman, M.;
Arias‐Vásquez, A.;
Yang, Y.;
Buitelaar, J.;
Fernández, G.;
Brunner, H. G.;
van Bokhoven, H.;
Franke, B.;
Hegenscheid, K.;
Homuth, G.;
Fisher, S. E.;
Grabe, H. J.;
Francks, C.;
Hagoort, P.

Publication type:

Article