Search Results - "Brunner, H. G"

The modular nature of genetic diseases by Oti, M, Brunner, HG

“…Evidence from many sources suggests that similar phenotypes are begotten by functionally related genes. This is most obvious in the case of genetically…”
Get full text

Predicting disease genes using protein–protein interactions by Oti, M, Snel, B, Huynen, M A, Brunner, H G

“…Background: The responsible genes have not yet been identified for many genetically mapped disease loci. Physically interacting proteins tend to be involved in…”
Get full text

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability by Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., 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., Brunner, H. G.

“…De novo mutations in specific mTOR pathway genes cause brain overgrowth in the context of intellectual disability (ID). By analyzing 101 mMTOR-related genes in…”
Get full text

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome by van Reeuwijk, J, Janssen, M, van den Elzen, C, Beltran-Valero de Bernabé, D, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M A, Verrips, A, Walsh, C A, Barth, P G, Brunner, H G, van Bokhoven, H

“…Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye…”
Get full text

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene by Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A

“…Background: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and…”
Get full text

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy 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

“…A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other…”
Get full text

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype by Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

“…The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and facial…”
Get more information

CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome by Jongmans, MCJ, Van Ravenswaaij-Arts, CMA, Pitteloud, N, Ogata, T, Sato, N, Claahsen-van der Grinten, HL, Van Der Donk, K, Seminara, S, Bergman, JEH, Brunner, HG, Crowley Jr, WF, Hoefsloot, LH

“…Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE…”
Get full text

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly by van Bon, BWM, Hoischen, A, Hehir-Kwa, J, de Brouwer, APM, Ruivenkamp, C, Gijsbers, ACJ, Marcelis, CL, de Leeuw, N, Veltman, JA, Brunner, HG, de Vries, BBA

Get full text

Glyc-O-genetics of Walker-Warburg syndrome by Van Reeuwijk, J, Brunner, HG, Van Bokhoven, H

“…Walker–Warburg syndrome (WWS) is the most severe of a group of multiple congenital anomaly disorders known as the cobblestone lissencephalies. These are…”
Get full text

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype by Roifman, M., Marcelis, C.L.M., Paton, T., Marshall, C., Silver, R., Lohr, J.L., Yntema, H.G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., Brunner, H.G., Chitayat, D.

“…Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening,…”
Get full text

The p63 gene in EEC and other syndromes by Brunner, H G, Hamel, B C J, van Bokhoven, H

“…Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various…”
Get full text

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function by Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, Vanallen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

“…Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain. There are several important HPE mutational target genes, including…”
Get more information

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype by Beltrán-Valero de Bernabé, D, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W B, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H G

Get full text

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) by Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, van Ravenswaaij, C M A, de Kovel, C G, Brunner, H G, Smeets, D, de Vries, B B A, Sistermans, E A

“…Background: Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation…”
Get full text

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

“…Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound…”
Get full text

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases by Driel, M.A. van, Cuelenaere, K, Kemmeren, P.P.C.W, Leunissen, J.A.M, Brunner, H.G, Vriend, G

“…The identification of genes underlying human genetic disorders requires the combination of data related to cytogenetic localization, phenotypes and expression…”
Get full text

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis by van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, de Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O, de Vries, B B A

“…Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental…”
Get more information

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome by Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F

“…12 Clinical features of MDC1C are onset in the first weeks of life, inability to walk, muscle hypertrophy, and highly elevated serum creatine kinase (CK)…”
Get full text

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum by Van Reeuwijk, J, Olderode-Berends, MJW, Van Den Elzen, C, Brouwer, OF, Roscioli, T, Van Pampus, MG, Scheffer, H, Brunner, HG, Van Bokhoven, H, Hol, FA

“…van Reeuwijk J, Olderode‐Berends MJW, van den Elzen C, Brouwer OF, Roscioli T, van Pampus MG, Scheffer H, Brunner HG, van Bokhoven H, Hol FA. A homozygous FKRP…”
Get full text