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mutation patient syndrome deletion genetic analysis genet family anomaly department stickler feature chromosome col 2a mutation study codon university figure stickler syndrome p.arg fication frameshift 3-2 spred atresia holoprosencephaly proband journal legius syndrome region legiu p.gly netherland nkx 3-2 phenotype table missense score individual nonsense report nkx 3-2 expression karyotype brain apple hospital abnormality expression identi fied cleft microcephaly ossi fication result sensorineural hearing loss col 2a gene jacobsen syndrome townes-brocks syndrome processing genetics part defect american journal european array dysplasia 11 q deletion mother probe hearing group substitution sequence identi development breakpoint jacobsen cleft palate birth european journal j med genet collagen
8 Most Recent Publications
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Legius syndrome in fourteen families
(Article)
Denayer, E. Chmara, M. Beert, E. Ishizaki, T. Mori, T. Keymolen, K. Ende, J. van den Mangold, E. Peltonen, S. Brice, G. Rankin, J. Spaendonck-Zwarts, K.Y. van Brems, H. Yoshimura, A. Legius, E. Kievit, A.M. Bever, Y. van Ouweland, A.M.W. van den Minkelen, R. van Goede-Bolder, A. de Oostenbrink, R. Lakeman, P. |
2011-01-01
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
(Article)
Paulussen, A.D.C. Schrander-Stumpel, C.T.R.M. Bever, Y. van Stolte-Dijkstra, I. Kerstjense-Frederikse, W.S. Herkert, J.C. Essen, J.A. van Lichtenbelt, K.D. Haeringen, A. van Kwee, M.L. Lachmeijer, A.M.A. Tan-Sindhunata, G.M.B. Tserpelis, D.C.J. Maarle, M.C. Arens, Y.H.J.M. Smeets, E.E.J.G.L. Die-Smulders, C. de Engelen, J.J.M. Smeets, H. Herbergs, J. Spee, M.K.M. Stegmann, A.P.A. Mancini, G.M. Brooks, A.S. Colée, M. Maat-Kievit, A.A. Simon, M.E.H. |
2010-09-01
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
(Article)
Hoornaert, K.P. Vereecke, I. Cormier-Daire, V. Die-Smulders, C. de Dieux-Coeslier, A. Dollfus, H. Elting, M. Green, A. Guerci, V.I. Hennekam, R.C.M. Hilhorst-Hofstee, Y. Holder, M. Dewinter, C. Hoyng, C. Jones, K.J. Josifova, D. Kaitila, I. Kjaergaard, S. Kroes, Y.H. Lagerstedt, K. Lees, M. LeMerrer, M. Magnani, C. Rosenberg, T. Marcelis, C. Martorell, L. Mathieu, M. McEntagart, M. Mendicino, A. Morton, J. Orazio, G. Paquis, V. Reish, O. Simola, K.O.J. Beemer, F.A. Smithson, S.F. Temple, K.I. Aken, E. van Bever, Y. van Ende, J. van den Hagen, J.M. van Zelante, L. Zordania, R. Paepe, A. de Leroy, B.P. Leroy, J.G. Buyzere, M. de Coucke, P. Mortier, G. Bendix, L. Björck, E. Bonduelle, M. Boute, O. |
2010-08-01
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Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
(Article)
Hellemans, J. Simon, M. Mortier, G. Dheedene, A. Alanay, Y. Mihci, E. Rifai, L. Sefiani, A. Bever, Y. van Meradji, M. Superti-Furga, A. |
2009-12-11
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Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement
(Article)
Bever, Y. van Gischler, S.J. Hoeve, L.J. Smit, L.S. Nauta, J. Dooijes, D. |
2009-11-01
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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review
(Article)
Zutven, L.J.C.M. van Bever, Y. van Nieuwland, C.C.M. van Huijbregts, G.C.M. Opstal, D. van Bergh, A.R.M. von Corel, L.J.A. Tibboel, D. Wouters, C.H. Poddighe, P. |
2009-07-01
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Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature
(Article)
Bever, Y. van Hest, L.P. Wolfs, R.C.W. Tibboel, D. Hoonaard, T.L. van den Gischler, S.J. |
2008-02-15
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Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome [2]
(Article)
Bever, Y. van Balemans, W. Duval, E.L.I.M. Jespers, A. Eyskens, F. Hul, W. van Courtens, W. |
2007-04-01
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