Search Results - "van de Kamp, J.M."

High prevalence of abnormalities on CT and MR imaging in children with unilateral sensorineural hearing loss irrespective of age or degree of hearing loss by van Beeck Calkoen, E.A, Sanchez Aliaga, E, Merkus, P, Smit, C.F, van de Kamp, J.M, Mulder, M.F, Goverts, S.T, Hensen, E.F

“…Abstract Objective Evaluation of causal abnormalities identified on CT and MR imaging in children with unilateral sensorineural hearing loss (USNHL), and the…”
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Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 by van de Kamp, J.M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S.J.M., Mancini, G.M., Steinberg, S.J., Salomons, G.S.

“…The BCAP31 gene is located between SLC6A8, associated with X‐linked creatine transporter deficiency, and ABCD1, associated with X‐linked adrenoleukodystrophy…”
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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield by Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A

“…Abstract Background Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and…”
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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation by Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L

“…Abstract Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct…”
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Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss by van Beeck Calkoen, E.A., Merkus, P., Goverts, S.T., van de Kamp, J.M., Mulder, M.F., Sanchez Aliaga, E., Hensen, E.F.

“…To evaluate the clinically relevant abnormalities as visualized on CT and MR imaging in children with symmetric and asymmetric bilateral sensorineural hearing…”
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Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy by Wesdorp, M., Schreur, V., Beynon, A.J., Oostrik, J., van de Kamp, J.M., Elting, M.W., van den Boogaard, M.‐J.H., Feenstra, I., Admiraal, R.J.C., Kunst, H.P.M., Hoyng, C.B., Kremer, H., Yntema, H.G., Pennings, R.J.E., Schraders, M.

“…This study focuses on further characterization of the audiovestibular phenotype and on genotype‐phenotype correlations of DFNB77, an autosomal recessive type…”
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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands by Ruijter, G.J.G., Valstar, M.J., van de Kamp, J.M., van der Helm, R.M., Durand, S., van Diggelen, O.P., Wevers, R.A., Poorthuis, B.J., Pshezhetsky, A.V., Wijburg, F.A.

“…Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme…”
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Bifurcation of the femur with tibial agenesis and additional anomalies by van de Kamp, J.M., van der Smagt, J.J., Bos, C.F.A., van Haeringen, A., Hogendoorn, P.C.W., Breuning, M.H.

“…Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop‐Wolfgang Complex and the tibial…”
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Bifurcation of the femur with tibial agenesis and additional anomalies by van de Kamp, J.M., van der Smagt, J.J., Bos, C.F.A., van Haeringen, A., Hogendoorn, P.C.W., Breuning, M.H.

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