|
|
DSpace at RU >
Search Results
Results 1-36 of 36.
Item hits:
| Full Text | Issue Date | Title | Author(s) |  | 2012 | Neuropsychologische kenmerken van het Noonan syndroom | Wingbermühle, P.A.M.; Egger, J.I.M.; Verhoeven, W.M.A.; Burgt, I. van der |
| | 2012 | Affective functioning and social cognition in Noonan syndrome | Wingbermühle, P.A.M.; Egger, J.I.M.; Verhoeven, W.M.A.; Burgt, C.J.A.M. van der; Kessels, R.P.C. |
| | 2012 | Cognitive functioning of adults with Noonan syndrome: a case-control study | Wingbermühle, P.A.M.; Roelofs, R.L.; Burgt, C.J.A.M. van der; Souren, P.M.; Verhoeven, W.M.A.; Kessels, R.P.C.; Egger, J.I.M. |
 | 2011 | Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects | Runtuwene, V.; Eekelen, M. van; Overvoorde, J.; Rehmann, H.; Yntema, H.G.; Nillesen, W.M.; Haeringen, A. van; Burgt, I. van der; Burgering, B.; Hertog, J.F. den |
 | 2011 | Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation | Jongmans, M.C.J.; Burgt, I. van der; Hoogerbrugge, P.M.; Noordam, K.; Yntema, H.G.; Nillesen, W.M.; Kuiper, R.P.; Ligtenberg, M.J.L.; Geurts van Kessel, A.H.M.; Krieken, J.H. van; Kiemeney, L.A.L.M.; Hoogerbrugge, N. |
| | 2011 | Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway | Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K.; Noordam, C.; Heuvel, L.P.W.J. van den; Nillesen, W.M.; Hollody, K.; Gillessen-Kaesbach, G.; Lammens, M.M.Y.; Smeitink, J.A.M.; Burgt, C.J.A.M. van der; Morava, E. |
| | 2010 | Noonan syndrome | Wingbermühle, P.A.M.; Burgt, C.J.A.M. van der; Egger, J.I.M.; Verhoeven, W.M.A. |
| | 2010 | Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. | Houweling, A.C.; Mooij, Y.M. de; Burgt, C.J.A.M. van der; Yntema, H.G.; Lachmeijer, A.M.; Go, A.T. |
| | 2010 | Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. | Jongmans, M.C.J.; Hoogerbrugge, P.M.; Hilkens, L.; Flucke, U.E.; Burgt, C.J.A.M. van der; Noordam, C.; Ruiterkamp-Versteeg, M.; Yntema, H.G.; Nillesen, W.M.; Ligtenberg, M.J.L.; Geurts van Kessel, A.H.M.; Kuiper, R.P.; Hoogerbrugge, N. |
| | 2010 | Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. | Faas, B.H.W.; Burgt, C.J.A.M. van der; Kooper, A.J.A.; Pfundt, R.; Hehir, J.Y.; Smits, A.P.T.; Leeuw, N. de |
| | 2010 | Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. | Martinelli, S.; Luca, A. De; Stellacci, E.; Rossi, C.; Checquolo, S.; Lepri, F.; Caputo, V.; Silvano, M.; Buscherini, F.; Consoli, F.; Ferrara, G.; Digilio, M.C.; Cavaliere, M.L.; Hagen, J.M. van; Zampino, G.; Burgt, C.J.A.M. van der; Ferrero, G.B.; Mazzanti, L.; Screpanti, I.; Yntema, H.G.; Nillesen, W.M.; Savarirayan, R.; Zenker, M.; Dallapiccola, B.; Gelb, B.D.; Tartaglia, M. |
| | 2009 | Neuropsychological and behavioural aspects of Noonan syndrome | Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Verhoeven, W.M.A. |
| | 2009 | Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification. | Kooper, A.J.A.; Faas, B.H.W.; Feuth, A.B.; Creemers, J.W.T.; Zondervan, H.H.; Boekkooi, P.F.; Quartero, R.W.; Rijnders, R.J.; Burgt, C.J.A.M. van der; Geurts van Kessel, A.H.M.; Smits, A.P.T. |
| | 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. |
| | 2008 | Het gebruik van alexithymievragenlijsten bij patiënten met Noonansyndroom | Theunissen, H.L.A.; Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Tuinier, S.; Verhoeven, W.M.A. |
| | 2008 | Noonansyndroom; samenhang met sociaal-cognitieve functies en psychiatrische symptomen? | Verhoeven, W.M.A.; Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Tuinier, S. |
| | 2008 | The use of alexithymia scales in patients with Noonan Syndrome | Verhoeven, W.M.A.; Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Tuinier, S.; Theunissen, H.L.A. |
| | 2008 | Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review. | Bon, B.W.M. van; Koolen, D.A.; Pfundt, R.P.; Burgt, I. van der; Leeuw, N. de; Vries, L.B.A. de |
| | 2008 | Alfafoetoproteïnebepaling in vruchtwater voor de detectie van neuralebuisdefecten: beperkte meerwaarde boven de 20-wekenecho; retrospectief onderzoek. | Kooper, A.J.A.; Smits, A.P.T.; Feuth, A.B.; Burgt, I. van der; Zondervan, H.A.; Quartero, R.W.P.; Boekkooi, P.F.; Rijnders, R.J.P.; Creemers, J.W.T.; Thomas, C.M.G. |
| | 2008 | Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. | Antonius, T.A.J.; Bon, B. van; Eggink, A.; Burgt, I. van der; Noordam, K.; Heijst, A. |
| | 2008 | Noonan syndrome : psychological and psychiatric aspects | Verhoeven, W.M.A.; Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, C.J.A.M. van der; Tuinier, S. |
| | 2008 | Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization. | Croonen, E.A.; Burgt, I. van der; Kapusta, L.; Draaisma, J.M.T. |
| | 2008 | Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells. | Kooper, A.J.A.; Faas, B.H.W.; Kater-Baats, E.; Feuth, T.; Janssen, J.C.; Burgt, I. van der; Lotgering, F.K.; Geurts van Kessel, A.H.M.; Smits, A.P.T. |
| | 2008 | Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. | Schulz, A.L.; Albrecht, B.; Arici, C.; Burgt, I. van der; Buske, A.; Gillessen-Kaesbach, G.; Heller, R.; Horn, D.; Hubner, C.A.; Korenke, G.C.; Konig, R.; Kress, W.; Kruger, G.; Meinecke, P.; Mucke, J.; Plecko, B.; Rossier, E.; Schinzel, A.; Schulze, A.; Seemanova, E.; Seidel, H.; Spranger, S.; Tuysuz, B.; Uhrig, S.; Wieczorek, D.; Kutsche, K.; Zenker, M. |
| | 2008 | Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. | Noordam, C.; Peer, P.G.M.; Francois, I.; Schepper, J. de; Burgt, I. van der; Otten, B.J. |
| | 2008 | [Alpha-foetoprotein assessment in amniotic fluid for the detection of neural tube defects: limited added value beyond week 20 ultrasound; retrospective study] | Kooper, A.J.A.; Smits, A.P.T.; Feuth, A.B.; Burgt, I. van der; Zondervan, H.A.; Quartero, R.W.P.; Boekkooi, P.F.; Rijnders, R.J.P.; Creemers, J.W.T.; Thomas, C.M.G. |
| | 2007 | Neuropsychiatrisch profiel bij volwassen patiënten met het Noonan syndroom | Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, I. van der; Tuinier, S.; Verhoeven, W.M.A. |
| | 2007 | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | Zenker, M.; Horn, D.; Wieczorek, D.; Allanson, J.; Pauli, S.; Burgt, I. van der; Doerr, H.G.; Gaspar, H.; Hofbeck, M.; Gillessen-Kaesbach, G.; Koch, A.; Meinecke, P.; Mundlos, S.; Nowka, A.; Rauch, A.; Reif, S.; Schnakenburg, C. von; Seidel, H.; Wehner, L.E.; Zweier, C.; Bauhuber, S.; Matejas, V.; Kratz, C.P.; Thomas, C.; Kutsche, K. |
| | 2007 | Noonan syndrome. | Burgt, I. van der |
| | 2007 | A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. | Vermeer, S.; Koolen, D.A.; Visser, G.; Brackel, H.J.; Burgt, I. van der; Leeuw, N. de; Willemsen, M.A.A.P.; Sistermans, E.A.; Pfundt, R.; Vries, B.B. van |
| | 2006 | Germline KRAS mutations cause Noonan syndrome. | Schubbert, S.; Zenker, M.; Rowe, S.L.; Boll, S.; Klein, C.; Bollag, G.; Burgt, I. van der; Musante, L.; Kalscheuer, V.M.M.; Wehner, L.E.; Nguyen, H.; West, B.; Zhang, K.Y.; Sistermans, E.A.; Rauch, A.; Niemeyer, C.M.; Shannon, K.; Kratz, C.P. |
| | 1997 | Further delineation of the critical region for Noonan syndrome on the long arm of chromosome 12 | Brady, A.F.; Jamieson, C.R.; Burgt, I. van der; Crosby, A.; Reen, M. van; Kremer, H.; Mariman, E.; Patton, M.A.; Jeffery, S. |
| | 1997 | T cell subsets and T cell function in cartilage-hair hypoplasia | Kooijman, R.; Burgt, C.J.A.M. van der; Weemaes, C.M.R.; Haraldsson, A.; Scholtens, E.J.; Zegers, B.J.M. |
| | 1997 | Mutations in CDMP1 cause autosomal dominant brachydactyly type C | Polinkovsky, A.; Robin, N.H.; Thomas, J.T.; Irons, M.; Lynn, A.; Goodman, F.R.; Reardon, W.; Kant, S.G.; Brunner, H.G.; Burgt, I. van der; Chitayat, D.; McGaughran, J.; Donnai, D.; Luyten, F.P.; Warman, M.L. |
| | 1995 | Genetic homogeneity of Cartilage-hair hypoplasia | Sulisalo, T.; Burgt, I. van der; Rimoin, D.L.; Bonaventure, J.; Sillence, D.; Campbell, J.B.; Chitayat, D.; Scott, C.I.; Chapella, A. de la; Sistonen, P.; Kaitila, I. |
| | 1995 | Normal phenotype in two brothers with a full FMR1 mutation | Smeets, H.J.M.; Smits, A.P.T.; Verheij, C.E.; Theelen, J.P.G.; Willemsen, R.; Burgt, I. van der; Hoogeveen, A.T.; Oosterwijk, J.C.; Oostra, B.A. |
1
|
