Zobrazeno 1 - 10
of 52
pro vyhledávání: '"J.M. van de Kamp"'
Akademický článek
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Autor:
K. Floor, Simone Salemink, K.J.A.F. van Kaam, J.M. van de Kamp, Ingrid P.C. Krapels, Marjan M. Weiss, T. van Dijk, E. Wijnands-van den Berg, D. van de Beek, Constance T. R. M. Stumpel, Marlies Kempers, Bart Loeys, Arjan C. Houweling, J. P. van Tintelen, A. J. M. Hoogeboom, K.H.N. de Boer, Hester Y. Kroes, Eline Overwater, V. J. M. Verhoeven, Alessandra Maugeri, J. M. Cobben, Yvonne Hilhorst-Hofstee
Publikováno v:
European Journal of Medical Genetics, 60, 9, pp. 465-473
European Journal of Medical Genetics, 60(9), 465. Elsevier Masson SAS
European Journal of Medical Genetics, 60, 465-473
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 2017, ' NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield ', European Journal of Medical Genetics, vol. 60, no. 9, pp. 465-473 . https://doi.org/10.1016/j.ejmg.2017.06.005
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson
European Journal of Medical Genetics, 60(9), 465-473
European Journal of Medical Genetics, 60(9), 465-473. Elsevier
European journal of medical genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465. Elsevier Masson SAS
European Journal of Medical Genetics, 60, 465-473
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 2017, ' NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield ', European Journal of Medical Genetics, vol. 60, no. 9, pp. 465-473 . https://doi.org/10.1016/j.ejmg.2017.06.005
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson
European Journal of Medical Genetics, 60(9), 465-473
European Journal of Medical Genetics, 60(9), 465-473. Elsevier
European journal of medical genetics, 60(9), 465-473. Elsevier Masson SAS
Background: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relativ
Autor:
S.T. Goverts, Margot F. Mulder, Paul Merkus, Erik F. Hensen, Helger G. Yntema, J.M. van de Kamp, M. S. D. Engel, E.A. van Beeck Calkoen
Publikováno v:
European Journal of Pediatrics, 178(8), 1195-1205. SPRINGER
van Beeck Calkoen, E A, Engel, M S D, van de Kamp, J M, Yntema, H G, Goverts, S T, Mulder, M F, Merkus, P & Hensen, E F 2019, ' The etiological evaluation of sensorineural hearing loss in children ', European Journal of Pediatrics, vol. 178, no. 8, pp. 1195-1205 . https://doi.org/10.1007/s00431-019-03379-8, https://doi.org/10.1007/s00431-019-03379-8
European Journal of Pediatrics, 178(8), 1195-1205. Springer Verlag
European Journal of Pediatrics
European Journal of Pediatrics, 178, 1195-1205
European Journal of Pediatrics, 178, 8, pp. 1195-1205
van Beeck Calkoen, E A, Engel, M S D, van de Kamp, J M, Yntema, H G, Goverts, S T, Mulder, M F, Merkus, P & Hensen, E F 2019, ' The etiological evaluation of sensorineural hearing loss in children ', European Journal of Pediatrics, vol. 178, no. 8, pp. 1195-1205 . https://doi.org/10.1007/s00431-019-03379-8, https://doi.org/10.1007/s00431-019-03379-8
European Journal of Pediatrics, 178(8), 1195-1205. Springer Verlag
European Journal of Pediatrics
European Journal of Pediatrics, 178, 1195-1205
European Journal of Pediatrics, 178, 8, pp. 1195-1205
This study aims to evaluate the etiology of pediatric sensorineural hearing loss (SNHL). A total of 423 children with SNHL were evaluated, with the focus on the determination of causative genetic and acquired etiologies of uni- and bilateral SNHL in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::225ca0c5171873f7d6cfd7ee5d4b6875
http://hdl.handle.net/1887/3195962
http://hdl.handle.net/1887/3195962
Kniha
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Autor:
Vivian Schreur, Margit Schraders, Ilse Feenstra, J.M. van de Kamp, M. J. van den Boogaard, Henricus P. M. Kunst, Mariet W. Elting, Carel B. Hoyng, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Ronald J.C. Admiraal, Andy J. Beynon, Helger G. Yntema, Jaap Oostrik
Publikováno v:
Clinical Genetics, 94(2), 221-231. Wiley-Blackwell
Clinical Genetics, 94(2), 221. Wiley-Blackwell
Clinical Genetics, 94, 221-231
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 2018, ' Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy ', Clinical Genetics, vol. 94, no. 2, pp. 221-231 . https://doi.org/10.1111/cge.13368
Clinical Genetics, 94, 2, pp. 221-231
Clinical Genetics, 94(2), 221. Wiley-Blackwell
Clinical Genetics, 94, 221-231
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 2018, ' Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy ', Clinical Genetics, vol. 94, no. 2, pp. 221-231 . https://doi.org/10.1111/cge.13368
Clinical Genetics, 94, 2, pp. 221-231
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6975add814c362d086cf31bd402d7cb
https://doi.org/10.1111/cge.13368
https://doi.org/10.1111/cge.13368
Autor:
S.T. Goverts, Margot F. Mulder, E. Sanchez Aliaga, E.A. van Beeck Calkoen, Erik F. Hensen, Paul Merkus, J.M. van de Kamp
Publikováno v:
van Beeck Calkoen, E A, Merkus, P, Goverts, S T, van de Kamp, J M, Mulder, M F, Sanchez Aliaga, E & Hensen, E F 2018, ' Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss ', International Journal of Pediatric Otorhinolaryngology, vol. 108, pp. 180-185 . https://doi.org/10.1016/j.ijporl.2018.02.022
International Journal of Pediatric Otorhinolaryngology, 108, 180-185. Elsevier Ireland Ltd
International Journal of Pediatric Otorhinolaryngology, 108, 180-185. ELSEVIER IRELAND LTD
International Journal of Pediatric Otorhinolaryngology, 108, 180-185. Elsevier Ireland Ltd
International Journal of Pediatric Otorhinolaryngology, 108, 180-185. ELSEVIER IRELAND LTD
Objective To evaluate the clinically relevant abnormalities as visualized on CT and MR imaging in children with symmetric and asymmetric bilateral sensorineural hearing loss (SNHL), in relation to age and the severity of hearing loss. Study design Re
Autor:
M. Howidi, S.J.M. van Dooren, S.J. Steinberg, J.M. van de Kamp, Hitoshi Osaka, J. Phalin-Roque, A. Errami, Gajja S. Salomons, S. Winter, Grazia M.S. Mancini, Irina Anselm
Publikováno v:
Clinical Genetics. 87:141-147
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe dev
Akademický článek
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Autor:
Ofir T. Betsalel, Gajja S. Salomons, I. de Koning, J.M. van de Kamp, C.A.J.M. Jakobs, Grazia M.S. Mancini, M.S. van der Knaap, P.J.W. Pouwels, S.J.M. van Dooren, Marjan E. Steenweg
Publikováno v:
Clinical genetics, 79(3), 264-272. Wiley-Blackwell
Clinical Genetics, 79(3), 264-272. Wiley-Blackwell
van de Kamp, J M, Mancini, G M S, Pouwels, P J W, Betsalel, O T, van Dooren, S J M, de Koning, I, Steenweg, M E, Jakobs, C A J M, van der Knaap, M S & Salomons, G S 2011, ' Clinical features and X-inactivation in females heterozygous for creatine transporter defect ', Clinical Genetics, vol. 79, no. 3, pp. 264-272 . https://doi.org/10.1111/j.1399-0004.2010.01460.x
Clinical Genetics, 79(3), 264-272. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 79(3), 264-272. Wiley-Blackwell
van de Kamp, J M, Mancini, G M S, Pouwels, P J W, Betsalel, O T, van Dooren, S J M, de Koning, I, Steenweg, M E, Jakobs, C A J M, van der Knaap, M S & Salomons, G S 2011, ' Clinical features and X-inactivation in females heterozygous for creatine transporter defect ', Clinical Genetics, vol. 79, no. 3, pp. 264-272 . https://doi.org/10.1111/j.1399-0004.2010.01460.x
Clinical Genetics, 79(3), 264-272. Wiley-Blackwell Publishing Ltd
The creatine transporter defect is an X-linked cause of mental retardation. We investigated the clinical features and pattern of X-inactivation in a Dutch cohort of eight female heterozygotes. We show that symptoms of the creatine transporter defect
Akademický článek
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