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Full Text	Issue Date	Title	Author(s)
	2012	Psychopathology in rare genetic disorders	Verhoeven, W.M.A.; Egger, J.I.M.; Brunner, H.G.
	2011	Unlocking Mendelian disease using exome sequencing.	Gilissen, C.F.; Hoischen, A.; Brunner, H.G.; Veltman, J.A.
	2011	Chromosomal anomalies in the etiology of anorectal malformations: A review.	Marcelis, C.L.M.; Blaauw, I. de; Brunner, H.G.
	2011	Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.	Hwang, C.S.; Sukalo, M.; Batygin, O.; Addor, M.C.; Brunner, H.G.; Aytes, A.; Mayerie, J.; Song, H.; Varshavsky, A.; Zenker, M.
	2011	Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly	Bon, B.W. van; Hoischen, A.; Hehir-Kwa, J.Y.; Brouwer, A.P. de; Ruivenkamp, C.; Gijsbers, A.C.; Marcelis, C.L.M.; Leeuw, N. de; Veltman, J.A.; Brunner, H.G.; Vries, B.B. de
	2011	Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans.	Feenstra, I.; Vissers, L.E.L.M.; Pennings, R.J.E.; Nillesen, W.M.; Pfundt, R.; Kunst, H.P.; Admiraal, R.J.; Veltman, J.A.; Ravenswaaij-Arts, C.M.A. van; Brunner, H.G.; Cremers, C.W.R.J.
	2011	A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder	Verhoeven, W.; Egger, J.; Brunner, H.G.; Leeuw, N. de
	2011	A Patient With a De Novo Distal 22q11.2 Microdeletion and Anxiety Disorder	Verhoeven, W.M.A.; Egger, J.I.M.; Brunner, H.G.; Leeuw, N. de
	2011	Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)	Vissers, L.E.L.M.; Fano, V.; Martinelli, D.; Campos-Xavier, B.; Barbuti, D.; Cho, T.J.; Dursun, A.; Kim, O.H.; Lee, S.; Timpani, G.; Nishimura, G.; Unger, S.; Sass, J.O.; Veltman, J.A.; Brunner, H.G.; Bonafe, L.; Dionisi-Vici, C.; Superti-Furga, A.
	2011	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP	Vissers, L.E.L.M.; Lausch, E.; Unger, S.; Campos-Xavier, A.B.; Gilissen, C.F.H.A.; Rossi, A. de; Rosario, M. del; Venselaar, H.; Knoll, U.; Nampoothiri, S.; Nair, M.; Spranger, J.; Brunner, H.G.; Bonafe, L.; Veltman, J.A.; Zabel, B.; Superti-Furga, A.
	2011	Pierpont syndrome: a collaborative study	Wright, E.M.; Suri, M.; White, S.M.; Leeuw, N. de; Vulto-van Silfhout, A.T.; Stewart, F.; McKee, S.; Mansour, S.; Connell, F.C.; Chopra, M.; Kirk, E.P.; Devriendt, K.; Reardon, W.; Brunner, H.G.; Donnai, D.
	2011	CEP152 is a genome maintenance protein disrupted in Seckel syndrome	Kalay, E.; Yigit, G.; Aslan, Y.; Brown, K.E.; Pohl, E.; Bicknell, L.S.; Kayserili, H.; Li, Y.; Tuysuz, B.; Nurnberg, G.; Kiess, W.; Koegl, M.; Baessmann, I.; Buruk, K.; Toraman, B.; Kayipmaz, S.; Kul, S.; Ikbal, M.; Turner, D.J.; Taylor, M.S.; Aerts, J.; Scott, C.; Milstein, K.; Dollfus, H.; Wieczorek, D.; Brunner, H.G.; Hurles, M.; Jackson, A.P.; Rauch, A.; Nurnberg, P.; Karaguzel, A.; Wollnik, B.
	2011	De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome	Hoischen, A.; Bon, B.W. van; Rodriguez-Santiago, B.; Gilissen, C.F.H.A.; Vissers, L.E.L.M.; Vries, P.F. de; Janssen, I.M.; Lier, B. van; Hastings, R.; Smithson, S.F.; Newbury-Ecob, R.; Kjaergaard, S.; Goodship, J.; McGowan, R.; Bartholdi, D.; Rauch, A.; Peippo, M.; Cobben, J.M.; Wieczorek, D.; Gillessen-Kaesbach, G.; Veltman, J.A.; Brunner, H.G.; Vries, B.B. de
	2011	CR1 genotype is associated with entorhinal cortex volume in young healthy adults	Bralten, J.B.; Franke, B.; Arias Vasquez, A.; Heister, A.; Brunner, H.G.; Fernandez, G.S.E.; Rijpkema, M.J.P.
	2011	Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis	Feenstra, I.; Hanemaaijer, N.; Sikkema-Raddatz, B.; Yntema, H.G.; Dijkhuizen, T.; Lugtenberg, D.; Verheij, J.; Green, A.; Hordijk, R.; Reardon, W.; Vries, B. de; Brunner, H.G.; Bongers, E.M.; Leeuw, N. de; Ravenswaaij-Arts, C.M.A. van
	2011	The phenotype of recurrent 10q22q23 deletions and duplications	Bon, B.W. van; Balciuniene, J.; Fruhman, G.; Nagamani, S.C.; Broome, D.L.; Cameron, E.; Martinet, D.; Roulet, E.; Jacquemont, S.; Beckmann, J.S.; Irons, M.; Potocki, L.; Lee, B.; Cheung, S.W.; Patel, A.; Bellini, M.; Selicorni, A.; Ciccone, R.; Silengo, M.; Vetro, A.; Knoers, N.V.A.M.; Leeuw, N. de; Pfundt, R.; Wolf, B.; Jira, P.; Aradhya, S.; Stankiewicz, P.; Brunner, H.G.; Zuffardi, O.; Selleck, S.B.; Lupski, J.R.; Vries, B.B. de
	2011	C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome	Arts, H.H.; Bongers, M.H.F.; Mans, D.A.; Beersum, S.E.C. van; Oud, M.M.; Bolat, E.; Spruijt, L.; Cornelissen, E.A.M.; Schuurs-Hoeijmakers, J.H.M.; Leeuw, N. de; Cormier-Daire, V.; Brunner, H.G.; Knoers, N.V.A.M.; Roepman, R.
	2011	Homozygosity mapping in outbred families with mental retardation	Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Pfundt, R.; Bon, B.W.M. van; Leeuw, N. de; Kleefstra, T.; Willemsen, M.A.A.P.; Geurts van Kessel, A.H.M.; Brunner, H.G.; Veltman, J.A.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de; Vries, B.B. de
	2011	Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress	Landsbergen, K.M.; Prins, J.B.; Brunner, H.G.; Hoogerbrugge, N.
	2011	Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice	Rainger, J.; Beusekom, E. van; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; Bokhoven, J.H.L.M. van; FitzPatrick, D.R.
	2011	Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions	Willemsen, M.H.; Beunders, G.; Callaghan, M.; Leeuw, N. de; Nillesen, W.M.; Yntema, H.G.; Hagen, J.M. van; Nieuwint, A.W.; Morrison, N.; Keijzers-Vloet, S.T.M.; Hoischen, A.; Brunner, H.G.; Tolmie, J.; Kleefstra, T.
	2011	Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults	Bralten, J.B.; Arias Vasquez, A.; Makkinje, R.R.; Veltman, J.A.; Brunner, H.G.; Fernandez, G.S.E.; Rijpkema, M.J.P.; Franke, B.
	2011	Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Jacquemont, S.; Reymond, A.; Zufferey, F.; Harewood, L.; Walters, R.G.; Kutalik, Z.; Martinet, D.; Shen, Y.; Valsesia, A.; Beckmann, N.D.; Thorleifsson, G.; Belfiore, M.; Bouquillon, S.; Campion, D.; Leeuw, N. de; Vries, B.B. de; Esko, T.; Fernandez, B.A.; Fernandez-Aranda, F.; Fernandez-Real, J.M.; Gratacos, M.; Guilmatre, A.; Hoyer, J.; Jarvelin, M.R.; Kooy, R.F.; Kurg, A.; Caignec, C. Le; Mannik, K.; Platt, O.S.; Sanlaville, D.; Haelst, M.M. van; Villatoro Gomez, S.; Walha, F.; Wu, B.L.; Yu, Y.; Aboura, A.; Addor, M.C.; Alembik, Y.; Antonarakis, S.E.; Arveiler, B.; Barth, M.; Bednarek, N.; Bena, F.; Bergmann, S.; Beri, M.; Bernardini, L.; Blaumeiser, B.; Bonneau, D.; Bottani, A.; Boute, O.; Brunner, H.G.; Cailley, D.; Callier, P.; Chiesa, J.; Chrast, J.; Coin, L.; Coutton, C.; Cuisset, J.M.; Cuvellier, J.C.; David, A.; Freminville, B. de; Delobel, B.; Delrue, M.A.; Demeer, B.; Descamps, D.; Didelot, G.; Dieterich, K.; Disciglio, V.; Doco-Fenzy, M.; Drunat, S.; Duban-Bedu, B.; Dubourg, C.; El-Sayed Moustafa, J.S.; Elliott, P.; Faas, B.H.W.; Faivre, L.; Faudet, A.; Fellmann, F.; Ferrarini, A.; Fisher, R.; Flori, E.; Forer, L.; Gaillard, D.; Gerard, M.; Gieger, C.; Gimelli, S.; Gimelli, G.; Grabe, H.J.; Guichet, A.; Guillin, O.; Hartikainen, A.L.; Heron, D.; Hippolyte, L.; Holder, M.; Homuth, G.; Isidor, B.; Jaillard, S.; Jaros, Z.; Jimenez-Murcia, S.; Helas, G.J.
	2010	Understanding variable expressivity in microdeletion syndromes.	Veltman, J.A.; Brunner, H.G.
	2010	Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?	Jongmans, M.C.J.; Pfundt, R.P.; Hehir-Kwa, J.Y.; Brunner, H.G.; Kerstjens-Frederikse, W.S.
	2010	Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals	Franke, B.; Arias Vasquez, A.; Veltman, J.A.; Brunner, H.G.; Rijpkema, M.J.P.; Fernández, G.
	2010	Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.	Mazzeu, J.F.; Vianna-Morgante, A.M.; Krepischi, A.C.; Oudakker, A.R.; Rosenberg, C.; Szuhai, K.; McGill, J.; Maccraughan, J.; Bokhoven, J.H.L.M. van; Brunner, H.G.
	2010	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.	Bruijn, D.R.H. de; Dijk, A.H.A. van; Pfundt, R.P.; Hoischen, A.; Merkx, G.F.M.; Gradek, G.A.; Lybaek, H.; Stray-Pedersen, A.; Brunner, H.G.; Houge, G.
	2010	Psychiatric Profile in Rubinstein-Taybi Syndrome. A Review and Case Report	Verhoeven, W.M.A.; Tuinier, S.; Kuijpers, H.J.H.; Egger, J.I.M.; Brunner, H.G.
	2010	A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.	Reeuwijk, J. van; Olderode-Berends, M.J.; Elzen, C. van den; Brouwer, O.F.; Roscioli, T.; Pampus, M.G. van; Scheffer, H.; Brunner, H.G.; Bokhoven, J.H.L.M. van; Hol, F.A.
	2010	Heritability of head size in dutch and Australian twin families at ages 0-50 years.	Smit, D.J.; Luciano, M.; Bartels, M.; Beijsterveldt, C.E. van; Wright, M.J.; Hansell, N.K.; Brunner, H.G.; Estourgie-van Burk, G.F.; Geus, E.J. de; Martin, N.G.; Boomsma, D.I.
	2010	Psychiatric profile in Rubinstein-Taybi syndrome : a review and case report	Verhoeven, W.M.A.; Tuinier, S.; Kuijpers, H.J.M.E.; Egger, J.I.; Brunner, H.G.
	2010	Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.	Ott, C.E.; Leschik, G.; Trotier, F.; Brueton, L.; Brunner, H.G.; Brussel, W.; Guillen-Navarro, E.; Haase, C.; Kohlhase, J.; Kotzot, D.; Lane, A.; Lee-Kirsch, M.A.; Morlot, S.; Simon, M.E.; Steichen-Gersdorf, E.; Tegay, D.H.; Peters, J.P.W.; Mundlos, S.; Klopocki, E.
	2010	WNT5A mutations in patients with autosomal dominant Robinow syndrome.	Person, A.D.; Beiraghi, S.; Sieben, C.M.; Hermanson, S.; Neumann, A.N.; Robu, M.E.; Schleiffarth, J.R.; Billington, C.J.; Bokhoven, J.H.L.M. van; Hoogeboom, J.M.; Mazzeu, J.F.; Petryk, A.; Schimmenti, L.A.; Brunner, H.G.; Ekker, S.C.; Lohr, J.L.
	2010	Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.	Krawitz, P.M.; Schweiger, M.R.; Rodelsperger, C.; Marcelis, C.L.M.; Kolsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Kohler, S.; Jager, M. de; Grunhagen, J.; Condor, B.J. de; Doelken, S.; Brunner, H.G.; Meinecke, P.; Passarge, E.; Thompson, M.D.; Cole, D.E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P.N.
	2010	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.	Hoischen, A.; Bon, B.W.M. van; Gilissen, C.F.H.A.; Arts, P.J.W.; Lier, B. van; Steehouwer, M.; Vries, P.F. de; Reuver, R. de; Wieskamp, N.A.W.; Mortier, G.; Devriendt, K.; Amorim, M.Z.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Oley, C.; Henderson, A.; Hayes, I.M.; Thompson, E.M.; Brunner, H.G.; Vries, L.B.A. de; Veltman, J.A.
	2010	A de novo paradigm for mental retardation.	Vissers, L.E.L.M.; Ligt, J. de; Gilissen, C.F.H.A.; Janssen, I.M.; Steehouwer, M.; Vries, P.F. de; Lier, B. van; Arts, P.J.W.; Wieskamp, N.A.W.; Rosario, M. del; Bon, B.W.M. van; Hoischen, A.; Vries, L.B.A. de; Brunner, H.G.; Veltman, J.A.
	2010	Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.	Gilissen, C.F.H.A.; Arts, H.H.; Hoischen, A.; Spruijt, L.; Mans, D.A.; Arts, P.J.W.; Lier, B. van; Steehouwer, M.; Reeuwijk, J. van; Kant, S.G.; Roepman, R.; Knoers, N.V.A.M.; Veltman, J.A.; Brunner, H.G.
	2010	Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.	Wijers, C.H.W.; Blaauw, I. de; Marcelis, C.L.M.; Wijnen, R.M.H.; Brunner, H.G.; Midrio, P.; Gamba, P.; Clementi, M.; Jenetzky, E.; Zwink, N.; Reutter, H.; Bartels, E.; Grasshoff-Derr, S.; Holland-Cunz, S.; Hosie, S.; Marzheuser, S.; Schmiedeke, E.; Cretolle, C.; Sarnacki, S.; Levitt, M.A.; Knoers, N.V.A.M.; Roeleveld, N.; Rooij, I.A.L.M. van
	2010	Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.	Kouwenhoven, E.N.; Heeringen, S.J. van; Tena, J.J.; Oti, M.O.; Dutilh, B.E.; Alonso, M.E.; Calle-Mustienes, E. de la; Smeenk, L.; Rinne, T.K.; Parsaulian, L.; Bolat, E.; Jurgelenaite, R.; Huynen, M.A.; Hoischen, A.; Veltman, J.A.; Brunner, H.G.; Roscioli, T.; Oates, E.; Wilson, M.; Manzanares, M.; Gomez-Skarmeta, J.L.; Stunnenberg, H.G.; Lohrum, M.A.E.; Bokhoven, J.H.L.M. van; Zhou, H.
	2010	Accurate distinction of pathogenic from benign CNVs in mental retardation.	Hehir, J.Y.; Wieskamp, N.A.W.; Webber, C.; Pfundt, R.; Brunner, H.G.; Gilissen, C.F.H.A.; Vries, L.B.A. de; Ponting, C.P.; Veltman, J.A.
	2010	Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.	Sharp, A.J.; Migliavacca, E.; Dupre, Y.; Stathaki, E.; Sailani, M.R.; Baumer, A.; Schinzel, A.; Mackay, D.J.; Robinson, D.O.; Cobellis, G.; Cobellis, L.; Brunner, H.G.; Steiner, B.; Antonarakis, S.E.
	2010	Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years.	Landsbergen, K.M.; Prins, J.B.; Kamm, Y.J.L.; Brunner, H.G.; Hoogerbrugge-van der Linden, N.
	2010	The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.	Bon, B.W.M. van; Koolen, D.A.; Brueton, L.; McMullan, D.; Lichtenbelt, K.D.; Ades, L.C.; Peters, G.; Gibson, K.; Moloney, S.; Novara, F.; Pramparo, T.; Bernardina, B. Dalla; Zoccante, L.; Balottin, U.; Piazza, F.; Pecile, V.; Gasparini, P.; Guerci, V.; Kets, M.; Pfundt, R.; Brouwer, A.P.M. de; Veltman, J.A.; Leeuw, N. de; Wilson, M.; Antony, J.; Reitano, S.; Luciano, D.; Fichera, M.; Romano, C.; Brunner, H.G.; Zuffardi, O.; Vries, L.B.A. de
	2010	Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals.	Franke, B.; Vasquez, A.A.; Veltman, J.A.; Brunner, H.G.; Rijpkema, M.J.P.; Fernandez, G.S.E.
	2009	Genetic testing offered directly after the diagnosis of colorectal cancer: a pilot study on the reactions af patients	Landsbergen, K.M.; Prins, J.B.; Brunner, H.G.; Hoogerbrugge, N.
	2009	Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?	Ben-Shachar, S.; Khajavi, M.; Withers, M.A.; Shaw, C.A.; Bokhoven, J.H.L.M. van; Brunner, H.G.; Lupski, J.R.
	2009	The biological coherence of human phenome databases.	Oti, M.O.; Huynen, M.A.; Brunner, H.G.
	2009	Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.	Kets, M.; Hoogerbrugge-van der Linden, N.; Krieken, J.H.J.M. van; Goossens, M.; Brunner, H.G.; Ligtenberg, M.J.L.
	2009	CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.	Jongmans, M.C.J.; Ravenswaaij-Arts, C.M.A. van; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H.L.; Donk, K. van der; Seminara, S.; Bergman, J.E.; Brunner, H.G.; Crowley, W.F.; Hoefsloot, L.H.

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