Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresi...

Por Brunner, H G, Winter, R M
Publicado em 1991

Predicting disease genes using protein–protein interactions

Por Oti, M, Snel, B, Huynen, M A, Brunner, H G
Publicado em 2006

Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress

Por Landsbergen, K. M., Prins, J. B., Brunner, H. G., Hoogerbrugge, N.
Publicado em 2010

Intestinal pseudo-obstruction in myotonic dystrophy.

Por Brunner, H G, Hamel, B C, Rieu, P, Höweler, C J, Peters, F T
Publicado em 1992

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Por Cunliffe, H E, McNoe, L A, Ward, T A, Devriendt, K, Brunner, H G, Eccles, M R
Publicado em 1998

Presymptomatic diagnosis of myotonic dystrophy.

Por Brunner, H G, Nillesen, W, van Oost, B A, Jansen, G, Wieringa, B, Ropers, H H, Smeets, H J
Publicado em 1992

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

Por van Driel, M. A., Cuelenaere, K., Kemmeren, P. P. C. W., Leunissen, J. A. M., Brunner, H. G., Vriend, Gert
Publicado em 2005

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

Por Lemmink, H H, Nillesen, W N, Mochizuki, T, Schröder, C H, Brunner, H G, van Oost, B A, Monnens, L A, Smeets, H J
Publicado em 1996

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

Por Vulto-van Silfhout, A.T., de Brouwer, A.F.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.
Publicado em 2012

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative

Por Landsbergen, K. M., Prins, J. B., Brunner, H. G., van Duijvendijk, P., Nagengast, F. M., van Krieken, J. H., Ligtenberg, M., Hoogerbrugge, N.
Publicado em 2012

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

Por de Die-Smulders, C E, Höweler, C J, Mirandolle, J F, Brunner, H G, Hovers, V, Brüggenwirth, H, Smeets, H J, Geraedts, J P
Publicado em 1994

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

Por 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
Publicado em 2006

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

Por Brunner, H G, Nelen, M R, van Zandvoort, P, Abeling, N G, van Gennip, A H, Wolters, E C, Kuiper, M A, Ropers, H H, van Oost, B A
Publicado em 1993

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

Por Lenders, J W, Eisenhofer, G, Abeling, N G, Berger, W, Murphy, D L, Konings, C H, Wagemakers, L M, Kopin, I J, Karoum, F, van Gennip, A H, Brunner, H G
Publicado em 1996

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 L...

Por 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.
Publicado em 2010

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Por Meijers-Heijboer, E J, Sandkuijl, L A, Brunner, H G, Smeets, H J, Hoogeboom, A J, Deelen, W H, van Hemel, J O, Nelen, M R, Smeets, D F, Niermeijer, M F
Publicado em 1992

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Por van Bokhoven, H, Jung, M, Smits, A P, van Beersum, S, Rüschendorf, F, van Steensel, M, Veenstra, M, Tuerlings, J H, Mariman, E C, Brunner, H G, Wienker, T F, Reis, A, Ropers, H H, Hamel, B C
Publicado em 1999

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

Por Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., van der Velde-Visser, S. D., Bruns, G. A. P., Cremers, C. W. R. J., Cremers, F. P. M., Ropers, H.-H.
Publicado em 1992

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

Por 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
Publicado em 2007

Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)

Por Brunner, H. G., Brüggenwirth, H. T., Nillesen, W., Jansen, G., Hamel, B. C. J., Hoppe, R. L. E., de Die, C. E. M., Höweler, C. J., van Oost, B. A., Wieringa, B., Ropers, H. H., Smeets, H. J. M.
Publicado em 1993