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Browsing by Author Ropers, H.H.

Full Text	Issue Date	Title	Author(s)
	2012	Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies	Kim, H.G.; Kim, H.T.; Leach, N.T.; Lan, F.; Ullmann, R., et al
	2011	Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1	Jensen, L.R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C., et al
	2010	Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.	Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.S.; Esch, H. van, et al
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.C.; Oudakker, A.R., et al
	2010	Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.	Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z., et al
	2010	A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.	Jensen, L.R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A., et al
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.	Giannandrea, M.; Bianchi, V.; Mignogna, M.L.; Sirri, A.; Carrabino, S., et al
	2009	A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.	Bashiardes, S.; Kousoulidou, L.; Bokhoven, J.H.L.M. van; Ropers, H.H.; Chelly, J., et al
	2009	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.	Tarpey, P.S.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S., et al
	2008	Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.	Froyen, G.; Corbett, M.; Walle, J. van de; Jarvela, I.; Lawrence, O., et al
	2008	Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.	Kalscheuer, V.M.M.; Feenstra, I.; Ravenswaaij-Arts, C.M.A. van; Smeets, D.F.C.M.; Menzel, C., et al
	2008	MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.	Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van, et al
	2007	Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.	Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H., et al
	2007	Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.	Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R., et al
	2007	X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.	Jensen, L.R.; Lenzner, S.; Moser, B.; Freude, K.; Tzschach, A., et al
	2007	Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.	Froyen, G.; Bauters, M.; Boyle, J.; Esch, H. van; Govaerts, K., et al
	2007	Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.	Chen, W.; Jensen, L.R.; Gecz, J.; Fryns, J.P.; Moraine, C., et al
	2006	Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.	Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Zutven, L. Van, et al
	2006	Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.	Poirier, K.; Lacombe, D.; Gilbert-Dussardier, B.; Raynaud, M.; Desportes, V., et al
	2006	Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.	Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J., et al
	2006	ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation	Lugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H., et al
	2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.	Jensen, L.R.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V., et al
	2005	X-linked mental retardation.	Ropers, H.H.; Hamel, B.C.J.
	2005	Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.	Laumonnier, F.; Holbert, S.; Ronce, N.; Faravelli, F.; Lenzner, S., et al
	2005	Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.	Poirier, K.; Francis, F.; Hamel, B.C.J.; Moraine, C.; Fryns, J.P., et al
	2004	X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.	Laumonnier, F.; Bonnet-Brilhault, F.; Gomot, M.; Blanc, R.; David, A., et al
	2004	Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.	Freude, K.; Hoffmann, K.; Jensen, L.R.; Delatycki, M.B.; Portes, V. des, et al
	2004	Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.	Shi, W.; Hurk, J.A.J.M. van den; Alamo-Bethencourt, V.; Mayer, W.; Winkens, H.J., et al
	2004	Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.	Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Banning, M.J.G.; Kalscheuer, V.M.M., et al
	2004	High prevalence of SLC6A8 deficiency in X-linked mental retardation.	Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Grauw, R.S. de; Yntema, H.G., et al
	1997	Molecular elucidation of hereditary eye diseases: pivotal role of the clinician	Ropers, H.H.
	1997	Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22	Quaderi, N.A.; Schweiger, S.; Gaudenz, K.; Franco, B.; Rugarli, E.I., et al
	1997	Identification of positional candidates for neurological disorders on chromosome 13q14->q22	Nothwang, H.G.; Wirth, J.; Brandl, B.; Haaf, T.; Nielsen, K.B., et al
	1997	Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system	Toliat, M.R.; Berger, W.; Ropers, H.H.; Neuhaus, P.; Wiedenmann, B.
	1997	Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses	Riesewijk, A.M.; Hu, L.; Schulz, U.; Tariverdian, G.; Höglund, P., et al
	1996	Localization of the gene for Cowden disease to chromosome 10q22-23	Nelen, M.R.; Padberg, G.W.; Peeters, E.A.J.; Lin, A.Y.; Helm, B. van den, et al
	1996	The MAS proto-oncogene is not imprinted in humans	Riesewijk, A.M.; Schepens, M.T.M.; Mariman, E.C.M.; Ropers, H.H.; Kalscheuer, V.M.M.
	1996	A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1	Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Smits, A.P.T.; Ropers, H.H.
	1996	Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription	Riesewijk, A.M.; Schepens, M.T.M.; Welch, T.R.; Berg-Loonen, E.M. van den; Mariman, E.C.M., et al
	1996	A highly polymorphic microsatellite marker located within the choroideremia gene	Bokhoven, J.H.L.M. van; Hurk, J.A.J.M. van den; Bogerd, E.H.; Pol, T.J.R. van de; Ropers, H.H., et al
	1996	Positional cloning of the gene for x-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1	Roepman, R.; Duijnhoven, G.C.F. van; Rosenberg, T.; Pinckers, A.J.L.G.; Bleeker-Wagemakers, P.L.M., et al
	1996	A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28	Hamel, B.C.J.; Kremer, J.M.J.; Wesby-van Swaay, E.; Helm, L.J.M. van den; Smits, A.P.T., et al
	1996	Familial X-linked mental retardation and isolated growth hormone deficiency : clinical and molecular findings	Hamel, B.C.J.; Smits, A.P.T.; Otten, B.J.; Helm, L.J.M. van den; Ropers, H.H., et al
	1996	De moleculaire basis van X-gebonden doofheid type 3 (DFN3): identificatie van 6 nieuwe deleties 900 kb proximaal van het DFN3gene, POU3F4	Kok, Y.J.M. de; Cremers, C.W.R.J.; Vossenaar, E.R.; Dahl, N.; Parnes, L., et al
	1995	The gene for Hereditary Bullous dystrophy, X-linked Macular Type, maps to the Xq27.3-qter region	Wijker, M.; Ligtenberg, M.J.L.; Schoute, F.; Defesche, J.C.; Pals, G., et al
	1995	A high-resolution interval map of the q21 region of the human X chromosome	Philippe, C.; Arnould, C.; Sloan, F.; Bokhoven, J.H.L.M. van; Velde-Visser, S.D. van der, et al
	1995	Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.	Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Struycken, P.M.; Ropers, H.H.
	1995	Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus	Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E., et al
	1995	Autosomal recessive Melnick-Needless Syndrome or ter Haar Syndrome? : Report of a patient and reappraisal of an earlier report	Hamel, B.C.J.; Draaisma, J.M.; Pinckers, A.J.L.G.; Boetes, C.; Hoppe, R.L.E., et al
	1995	Autosomal recessive Melnick-Needless syndrome or ter Haar syndrome?	Hamel, B.C.J.; Draaisma, J.M.; Pinckers, A.J.L.G.; Boetes, C.; Hoppe, R.L.E., et al