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Full Text	Issue Date	Title	Author(s)
	2011	The clinical spectrum of complete FBN1 allele deletions.	Hilhorst-Hofstee, Y.; Hamel, B.C.J.; Verheij, J.B.G.M.; Rijlaarsdam, M.E.; Mancini, G.M.; Cobben, J.M.; Giroth, C.P.; Ruivenkamp, C.A.; Hansson, K.B.; Timmermans, J.; Moll, H.A.; Breuning, M.H.; Pals, G.
	2011	Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia	Cuijpers, M.L.H.; Spronsen, D.J. van; Muus, P.; Hamel, B.C.J.; Swinkels, D.W.
	2011	Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay	Refke, M.; Pasternack, S.M.; Fiebig, B.; Wenzel, S.; Ishorst, N.; Ludwig, M.; Nothen, M.M.; Seijger, M.M.B.; Hamel, B.C.J.; Betz, R.C.
	2011	Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions	Willemsen, M.H.; Leeuw, N. de; Mercer, C.; Eisenhauer, H.; Morris, J.; Collinson, M.N.; Barber, J.C.; Lam, S.T.; Lo, I.F.; Rensen, H.; Ferwerda, A.; Hamel, B.C.J.; Kleefstra, T.
	2011	Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19	Bredrup, C.; Saunier, S.; Oud, M.M.; Fiskerstrand, T.; Hoischen, A.; Brackman, D.; Leh, S.M.; Midtbo, M.; Filhol, E.; Bole-Feysot, C.; Nitschke, P.; Gilissen, C.F.H.A.; Haugen, O.H.; Sanders, J.S.; Stolte-Dijkstra, I.; Mans, D.A.; Steenbergen, E.; Hamel, B.C.J.; Matignon, M.; Pfundt, R.; Jeanpierre, C.; Boman, H.; Rodahl, E.; Veltman, J.A.; Knappskog, P.M.; Knoers, N.V.A.M.; Roepman, R.; Arts, H.H.
	2011	Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability	Willemsen, M.H.; Valles, A.; Kirkels, L.A.; Mastebroek, M.; Olde Loohuis, N.; Kos, A.; Wissink-Lindhout, W.M.; Brouwer, A.P.M. de; Nillesen, W.M.; Pfundt, R.; Holder-Espinasse, M.; Vallee, L.; Andrieux, J.; Coppens-Hofman, M.C.; Rensen, H.; Hamel, B.C.J.; Bokhoven, H. van; Aschrafi, A.; Kleefstra, T.
	2010	A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.	Mundhofir, F.E.P.; Kooper, A.J.A.; Winarni, T.I.; Smits, A.P.T.; Faradz, S.; Hamel, B.C.J.
	2010	Profiling fragile X syndrome in males: strengths and weaknesses in cognitive abilities.	Molen, M.J. van der; Huizinga, M.; Ridderinkhof, K.R.; Molen, M.W. van der; Hamel, B.C.J.; Curfs, L.M.G; Ramakers, G.J.
	2010	Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.	Jung, C.; Dagoneau, N.; Baujat, G.; Merrer, M. Le; David, A.; Rocco, M. Di; Hamel, B.C.J.; Megarbane, A.; Superti-Furga, A.; Unger, S.L.
	2010	The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1, Including a Recessive Family.	Hilhorst-Hofstee, Y.; Rijlaarsdam, M.E.; Scholte, A.J.H.A.; Swart-van den Berg, M.; Versteegh, M.I.; Schoot-van Velzen, I. van der; Schabitz, H.J.; Bijlsma, E.K.; Baars, M.J.; Kerstjens-Frederikse, W.S.; Giltay, J.; Hamel, B.C.J.; Breuning, M.H.; Pals, G.
	2010	Recurrent and founder mutations in the Netherlands. Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutations.	Aalberts, J.J.J.; Schuurman, A.G.; Pals, G.; Hamel, B.C.J.; Bosman, G.J.C.G.M.; Hilhorst-Hofstee, Y.; Barge-Schaapveld, D.Q.C.M.; Mulder, B.J.M.; Berg, M.P. van den; Tintelen, J.P. van
	2010	Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial.	Radonic, T.; Zwinderman, A.H.; Witte, P. de; Bouma, B.J.; Mulder, B.J.; Groenink, M.; Baars, M.J.; Timmermans, J.; Hamel, B.C.J.; Berg, M.P. van den; Tintelen, P.J. van; Scholte, A.J.; Hilhorst-Hofstee, Y.
	2010	Genotype-phenotype correlation in L1 syndrome: a guide for genetic counselling and mutation analysis.	Vos, Y.J.; Walle, H.E. de; Bos, K.K.; Stegeman, J.A.; Berge, A.M. ten; Bruining, M.; Maarle, M.C. van; Elting, M.W.; Hollander, N.S. den; Hamel, B.C.J.; Fortuna, A.M.; Sunde, L.; Stolte-Dijkstra, I.; Schrander-Stumpel, C.T.R.M.; Hofstra, R.M.
	2010	Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.	Vries, J. de; Yntema, J.L.; Die, C.E. van; Crama, N.; Cornelissen, E.A.M.; Hamel, B.C.J.
	2010	Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome.	Voermans, N.C.; Knoop, H.; Kamp, N. van de; Hamel, B.C.J.; Bleijenberg, G.; Engelen, B.G.M. van
	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.; Janecke, A.R.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.P.; Chelly, J.; Brouwer, A.P.M. de; Hamel, B.C.J.; Gecz, J.; Ropers, H.H.; Kuss, A.W.
	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.; Kjaergaard, S.; Vianna-Morgante, A.M.; Kleefstra, T.; Ruiter, E.M.; Jehee, F.S.; Ullmann, R.; Schwartz, C.E.; Stratton, M.; Raymond, F.L.; Veltman, J.A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Froyen, G.; Chelly, J.; Ropers, H.H.; Moraine, C.; Gecz, J.; Knijnenburg, J.; Kant, S.G.; Hamel, B.C.J.; Rosenberg, C.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	2010	Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.	Iqbal, Z.; Cejudo-Martin, P.; Brouwer, A.; Zwaag, B. van der; Ruiz-Lozano, P.; Scimia, M.C.; Lindsey, J.D.; Weinreb, R.; Albrecht, B.; Megarbane, A.; Alanay, Y.; Ben-Neriah, Z.; Amenduni, M.; Artuso, R.; Veltman, J.A.; Beusekom, E. van; Oudakker, A.R.; Millan, J.L.; Hennekam, R.; Hamel, B.C.J.; Courtneidge, S.A.; Bokhoven, J.H.L.M. van
	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; Kleefstra, T.; Briault, S.; Fryns, J.P.; Hamel, B.C.J.; Chelly, J.; Ropers, H.H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M.
	2009	Klinische genetica in perspectief	Hamel, B.C.J.
	2009	Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome.	Voermans, N.C.; Bonnemann, C.G.; Lammens, M.M.Y.; Engelen, B.G.M. van; Hamel, B.C.J.
	2009	Marfan syndrome masked by Down syndrome?	Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.
	2009	Compound-heterozygous Marfan syndrome.	Dijk, F.S. Van; Hamel, B.C.J.; Hilhorst-Hofstee, Y.; Mulder, B.J.; Timmermans, J.; Pals, G.; Cobben, J.M.
	2009	Neurologic aspects of MECP2 gene duplication in male patients.	Echenne, B.; Roubertie, A.; Lugtenberg, D.; Kleefstra, T.; Hamel, B.C.J.; Bokhoven, H. van; Lacombe, D.; Philippe, C.; Jonveaux, P.; Brouwer, A.P.M. de
	2009	Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.	Lugtenberg, D.; Brouwer, A.P.M. de; Oudakker, A.R.; Pfundt, R.P.; Hamel, B.C.J.; Bokhoven, H. van; Bongers, E.M.H.F.
	2009	Neuromuscular features in Marfan syndrome.	Voermans, N.C.; Timmermans, J.; Alfen, N. van; Pillen, S.; Akker, J.W. op den; Lammens, M.M.Y.; Zwarts, M.J.; Rooij, I.A.L.M. van; Hamel, B.C.J.; Engelen, B.G.M. van
	2009	Fibrillin-1 staining anomalies are associated with increased staining for TGF-beta and elastic fibre degradation; new clues to the pathogenesis of emphysema.	Koenders, M.M.J.F.; Wismans, R.; Starcher, B.; Hamel, B.C.J.; Dekhuijzen, P.N.R.; Kuppevelt, A.H.M.S.M. van
	2009	Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.	Voermans, N.C.; Bonnemann, C.G.; Hamel, B.C.J.; Jungbluth, H.; Engelen, B.G.M. van
	2009	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.	Lugtenberg, D.; Kleefstra, T.; Oudakker, A.R.; Nillesen, W.M.; Yntema, H.G.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J.; Goizet, C.; Lacombe, D.; Pedespan, J.M.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M.D.; Green, A.; Kogelenberg, M. van; Esch, H. van; Gecz, J.; Hamel, B.C.J.; Bokhoven, H. van; Brouwer, A.P.M. de
	2009	PORCN mutations in focal dermal hypoplasia: coping with lethality.	Bornholdt, D.; Oeffner, F.; Konig, A.; Happle, R.H.G.; Alanay, Y.; Ascherman, J.; Benke, P.J.; Boente Mdel, C.; Burgt, I. van der; Chassaing, N.; Ellis, I.; Francisco, C.R.; Giovanna, P. Della; Hamel, B.C.J.; Has, C.; Heinelt, K.; Janecke, A.; Kastrup, W.; Loeys, B.; Lohrisch, I.; Marcelis, C.L.M.; Mehraein, Y.; Nicolas, M.E.; Pagliarini, D.; Paradisi, M.; Patrizi, A.; Piccione, M.; Piza-Katzer, H.; Prager, B.; Prescott, K.; Strien, J.; Utine, G.E.; Zeller, M.S.; Grzeschik, K.H.
	2009	Neuromuscular involvement in various types of Ehlers-Danlos syndrome.	Voermans, N.C.; Alfen, N. van; Pillen, S.; Lammens, M.M.Y.; Schalkwijk, J.; Zwarts, M.J.; Rooij, I.A.L.M. van; Hamel, B.C.J.; Engelen, B.G.M. van
	2008	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.	Betsalel, O.T.; Kamp, JM van de; Martinez-Munoz, C.; Rosenberg, E.H.; Brouwer, A.P.M. de; Pouwels, P.J.; Knaap, M.S. van der; Mancini, G.M.; Jakobs, C.; Hamel, B.C.J.; Salomons, G.S.
	2008	Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.	Griffith, E.; Walker, S.; Martin, C.A.; Vagnarelli, P.; Stiff, T.; Vernay, B.; Sanna, N. Al; Saggar, A.; Hamel, B.C.J.; Earnshaw, W.C.; Jeggo, P.A.; Jackson, A.P.; O'Driscoll, M.
	2008	Clinical and molecular overlap between myopathies and inherited connective tissue diseases.	Voermans, N.C.; Bonnemann, C.G.; Huijing, P.A.; Hamel, B.C.J.; Kuppevelt, A.H.M.S.M. van; Haan, A. de; Schalkwijk, J.; Engelen, B.G.M. van; Jenniskens, G.J.
	2008	Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.	Bon, B.W.M. van; Koolen, D.A.; Borgatti, R.; Magee, A.; Garcia-Minaur, S.; Rooms, L.; Reardon, W.; Zollino, M.; Bonaglia, M.C.; Gregori, M. de; Novara, F.; Grasso, R.; Ciccone, R.; Duyvenvoorde, H.A. van; Aalbers, A.M.; Guerrini, R.; Fazzi, E.; Nillesen, W.M.; McCullough, S.; Kant, S.G.; Marcelis, C.L.M.; Pfundt, R.P.; Leeuw, N. de; Smeets, D.; Sistermans, E.A.; Wit, J.M.; Hamel, B.C.J.; Brunner, H.G.; Kooy, F.; Zuffardi, O.; Vries, L.B.A. de
	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; Portes, V. des; Moog, U.; Macville, M.V.; Roozendaal, K. van; Schrander-Stumpel, C.T.; Tzschach, A.; Marynen, P.; Fryns, J.P.; Hamel, B.C.J.; Bokhoven, H. van; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H.H.; Froyen, G.; Kuss, A.W.
	2007	Homozygosity for a FBN1 missense mutations: clinical and molecular evidence for recessive Marfan syndrome.	Vries, B. de; Pals, G.; Odink, R.J.; Hamel, B.C.J.
	2007	Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.	Voermans, N.C.; Jenniskens, G.J.; Hamel, B.C.J.; Schalkwijk, J.; Guicheney, P.; Engelen, B.G.M. van
	2007	Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients.	Voermans, N.C.; Altenburg, T.M.; Hamel, B.C.J.; Haan, A. de; Engelen, B.G.M. van
	2007	Arts syndrome is caused by loss-of-function mutations in PRPS1	Brouwer, A.P.M. de; Williams, K.L.; Duley, J.A.; Kuilenburg, A.B. van; Nabuurs, S.B.; Egmont-Peterson, M.; Lugtenberg, D.; Zoetekouw, L.; Banning, M.J.G.; Roeffen, M.; Hamel, B.C.J.; Weaving, L.; Ouvrier, R.A.; Donald, J.A.; Wevers, R.A.; Christodoulou, J.; Bokhoven, J.H.L.M. van
	2007	Pure subtelomeric microduplications as a cause of mental retardation.	Ruiter, E.M.; Koolen, D.A.; Kleefstra, T.; Nillesen, W.M.; Pfundt, R.; Leeuw, N. de; Hamel, B.C.J.; Brunner, H.G.; Sistermans, E.A.; Vries, B.B. van
	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.; Wei, C.; Fryns, J.P.; Chelly, J.; Turner, G.; Moraine, C.; Hamel, B.C.J.; Ropers, H.H.; Kuss, A.W.
	2007	Clinical and molecular phenotype of Aicardi-Goutieres syndrome.	Rice, G.; Patrick, T.; Parmar, R.; Taylor, C.F.; Aeby, A.; Aicardi, J.; Artuch, R.; Montalto, S.A.; Bacino, C.A.; Borroso, B.; Baxter, P.; Benko, W.S.; Bergmann, C.; Bertini, E.; Biancheri, R.; Blair, E.; Blau, N.; Bonthron, D.T.; Briggs, T.; Brueton, L.; Brunner, H.G.; Burke, C.J.; Carr, I.; Carvalho, D.R.; Chandler, K.E.; Christen, H.J.; Corry, P.C.; Cowan, F.M.; Cox, H.; D'Arrigo, S.; Dean, J.; Laet, C.E. de; Praeter, C.M. de; Dery, C.; Ferrie, C.D.; Flintoff, K.; Frints, S.G.; Garcia-Cazorla, A.; Gener, B.; Goizet, C.; Goutieres, F.; Green, A.J.; Guet, A.; Hamel, B.C.J.; Hayward, B.E.; Heiberg, A.; Hennekam, R.C.M.; Husson, M.; Jackson, A.P.; Jayatunga, R.; Jiang, Y.H.; Kant, S.; Kao, A.; King, M.; Kingston, H.; Klepper, J.; Knaap, M.S. van der; Kornberg, A.J.; Kotzot, D.; Kratzer, W.; Lacombe, D.; Lagae, L.; Landrieu, P.G.; Lanzi, G.; Leitch, A.; Lim, M.J.; Livingston, J.H.; Lourenco, C.M.; Lyall, E.G.H.; Lynch, S.A.; Lyons, M.J.; Marom, D.; McClure, J.P.; McWilliam, R.; Melancon, S.B.; Mewasingh, L.D.; Moutard, M.L.; Nischal, K.K.; Ostergaard, J.R.; Prendiville, J.; Rasmussen, M.; Rogers, R.C.; Roland, D.; Rosser, E.M.; Rostasy, K.; Roubertie, A.; Sanchis, A.; Schiffmann, R.; Scholl-Burgi, S.; Seal, S.; Shalev, S.A.; Corcoles, C.S.; Sinha, G.P.; Soler, D.; Spiegel, R.; Stephenson, J.B.; Tacke, U.; Tan, T.Y.; Willemsen, M.A.A.P.
	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.; Vries, B. de; Bokhoven, J.H.L.M. van; Esch, H. van; Frints, S.G.; Froyen, G.; Fryns, J.P.; Raynaud, M.; Moizard, M.P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; Portes, V. des; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A.W.; Tzschach, A.; Jensen, L.R.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.; Hamel, B.C.J.
	2007	Arts syndrome is caused by loss-of-function mutations in PRPS1	Brouwer, A.P.M. de; Williams, K.L.; Duley, J.A.; Kuilenburg, A.B.P. van; Nabuurs, S.B.; Egmont-Peterson, M.; Lugtenberg, D.; Zoetekouw, L.; Banning, M.J.G.; Roeffen, M.; Hamel, B.C.J.; Weaving, L.; Ouvrier, R.A.; Donald, J.A.; Wevers, R.A.; Christodoulou, J.; Bokhoven, J.H.L.M. van
	2006	Strategies for present and future mental retardation diagnosis.	Lugtenberg, D.; Hamel, B.C.J.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	2006	Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.	Morava, E.; Hamel, B.C.J.; Hol, F.A.; Rodenburg, R.J.T.; Smeitink, J.A.M.
	2006	Recurrent neuropathy associated with Ehlers-Danlos syndrome.	Voermans, N.C.; Drost, G.; Kampen, A. van; Gabreëls-Festen, A.A.W.M.; Lammens, M.M.Y.; Hamel, B.C.J.; Schalkwijk, J.; Engelen, B.G.M. van
	2006	Pattern of p63 mutations and their phenotypes--update.	Rinne, T.K.; Hamel, B.C.J.; Bokhoven, J.H.L.M. van; Brunner, H.G.
	2006	Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.	Feenstra, I.; Koolen, D.A.; Pas, J. van der; Hamel, B.C.J.; Mieloo, H.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van

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