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2. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Author

Schrauwen, I., Valgaeren, Hanne, Tomas Roca, L.U., Sommen, Manou, Altunoglu, Umut, Wesdorp, M., Beusekom, E. van, Gilissen, C., Hoischen, A., Cremers, C.W., Verbist, B.M., Brouwer, A.P.M. de, Padberg, G.W., Pennings, R.J., Kremer, H., Camp, Guy Van, Bokhoven, H. van, Schrauwen, I., Valgaeren, Hanne, Tomas Roca, L.U., Sommen, Manou, Altunoglu, Umut, Wesdorp, M., Beusekom, E. van, Gilissen, C., Hoischen, A., Cremers, C.W., Verbist, B.M., Brouwer, A.P.M. de, Padberg, G.W., Pennings, R.J., Kremer, H., Camp, Guy Van, and Bokhoven, H. van

Abstract

Item does not contain fulltext

Published
2019

3. Zuidnederlandse Archeologische Rapporten 63

Author

Bink, M., Wesdorp, M., Hebinck, K.A., Arts, N., Haasteren, H. van, Henriksen, M., and VUhbs archeologie

Subjects
Archaeology, Nederzetting, onbepaald (NX), Landgoed, omgrachte hoeve, landerijen, Temporal coverage: Midden Mesolithicum - Nieuwe Tijd
Published
2018
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5. Bewoningssporen uit de Ijzertijd in het plangebied de Mierbeek te Esbeek, gemeente Hilvarenbeek

Author

Wesdorp, M. and VUhbs archeologie

Subjects
Middeleeuwen laat A: 1050 - 1250 nC (LMEA), IJzertijd midden: 500 - 250 vC (IJZM), Nieuwe tijd C: 1850 - heden (NTC), Romeinse tijd: 12 vC - 450 nC (ROM), Nieuwe tijd B: 1650 - 1850 nC (NTB), Nieuwe tijd A: 1500 - 1650 nC (NTA), Economie - Akker/tuin (ELA), Nederzetting, onbepaald (NX), Middeleeuwen: 450 - 1500 nC (XME), IJzertijd: 800 - 12 vC (IJZ), Archaeology, Middeleeuwen laat: 1050 - 1500 nC (LME), Middeleeuwen laat B: 1250 - 1500 nC (LMEB), IJzertijd laat: 250 - 12 vC (IJZL), Nieuwe tijd: 1500 - heden (NT), Infrastructuur - Percelering/verkaveling (IPER), Huisplattegrond, boerderij, woonstalhuis, spiekers
Published
2018
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6. Zuidnederlandse Archeologische Notities 133

Author

Lascaris, M.A., Wesdorp, M., and VUhbs archeologie

Subjects
Archaeology, Middeleeuwen laat: 1050 - 1500 nC (LME), Nieuwe tijd: 1500 - heden (NT), Nederzetting, onbepaald (NX), Gebouwplattegrond, boerderij, erf, boomstamwaterput
Published
2018
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7. Zuidnederlandse Archeologische Notities 251

Author

Koot, C.W., Wesdorp, M, and VUhbs archeologie

Subjects
IJzertijd: 800 - 12 vC (IJZ), Archaeology, Romeinse tijd: 12 vC - 450 nC (ROM), Opgraving, Nieuwe tijd: 1500 - heden (NT), Nederzetting, onbepaald (NX), Temporal coverage: IJzertijd - Nieuwe Tijd, Middeleeuwen: 450 - 1500 nC (XME)
Published
2018
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10. Zuidnederlandse Archeologische Notities 266

Author

Elstrodt, I., Wesdorp, M., Coot, C.W., Brijker, J., Kluiving, S.J., Smits, E., Voeten, D., Wijnen, J.J.A., and VUhbs archeologie

Subjects
Archaeology, Temporal coverage: Late - Bronstijd t/m Nieuwe Tijd, Nederzetting, onbepaald (NX), Begraving - Grafveld, crematies (GVC)
Published
2018
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11. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Author

Wesdorp, M., Murillo-Cuesta, Silvia, Peters, T.A., Celaya, Adelaida M., Oonk, A.M., Schraders, M., Oostrik, J., Beynon, A.J., Hartel, B.P., Okkersen, K., Koenen, H.J.P.M., Lelieveld, S.H., Joosten, I., Hoyng, C.B., Kunst, H.P.M., Feenstra, I., Bruijn, S.E. de, Admiraal, R.J.C., Yntema, H.G., WIjk, E. van, Pennings, R.J.E., Kremer, H., Wesdorp, M., Murillo-Cuesta, Silvia, Peters, T.A., Celaya, Adelaida M., Oonk, A.M., Schraders, M., Oostrik, J., Beynon, A.J., Hartel, B.P., Okkersen, K., Koenen, H.J.P.M., Lelieveld, S.H., Joosten, I., Hoyng, C.B., Kunst, H.P.M., Feenstra, I., Bruijn, S.E. de, Admiraal, R.J.C., Yntema, H.G., WIjk, E. van, Pennings, R.J.E., and Kremer, H.

Abstract

Item does not contain fulltext

Published
2018

12. Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Author

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., 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., and Schraders, M.

Published
2018

13. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Author

Wesdorp, M. (Mieke), de Koning Gans, P.A.M. (P. A M), Schraders, M. (Margit), Oostrik, J. (Jaap), Huynen, M. (Martijn), Venselaar, H. (Hanka), Beynon, A.J. (Andy J.), van Gaalen, J. (Judith), Piai, V. (Vitória), Voermans, N.C. (Nicol), Rossum, M.M. (Michelle) van, Hartel, B.P. (Bas P.), Lelieveld, S.H. (Stefan H.), Wiel, L. (Laurens), Verbist, B. (Berit), Rotteveel, L.J. (Liselotte J.), Dooren, M.F. (Marieke) van, Lichtner, P. (Peter), Kunst, H.P.M. (Henricus P. M.), Feenstra, I. (Ilse), Admiraal, R.J.C. (Ronald J. C.), van Dooren, M.F. (M. F.), de Gier, H.H.W. (H. H.W.), Hoefsloot, E.H. (Lies), Schroeff, M.P. (Marc) van der, Kant, S.G. (Sarina), Rotteveel, L.J.C. (L. J.C.), Frints, S.G.M. (Suzanna), Hof, J.R. (J. R.), Stokroos, R.J. (Robert Jan), Vanhoutte, E.K. (Els), Admiraal, R.J. (Ronald), Feenstra, I. (I.), Kremer, H. (H.), Kunst, H.P.M. (Henricus P.M.), Pennings, R.J.E. (Ronald J.E.), Yntema, H.G. (H. G.), Essen, J.A. (Anthonie) van, Free, R.H. (Rolien), Klein-Wassink, J.S. (J. S.), Yntema, H.G., Pennings, R.J.E. (Ronald J. E.), Kremer, H. (Hannie), Wesdorp, M. (Mieke), de Koning Gans, P.A.M. (P. A M), Schraders, M. (Margit), Oostrik, J. (Jaap), Huynen, M. (Martijn), Venselaar, H. (Hanka), Beynon, A.J. (Andy J.), van Gaalen, J. (Judith), Piai, V. (Vitória), Voermans, N.C. (Nicol), Rossum, M.M. (Michelle) van, Hartel, B.P. (Bas P.), Lelieveld, S.H. (Stefan H.), Wiel, L. (Laurens), Verbist, B. (Berit), Rotteveel, L.J. (Liselotte J.), Dooren, M.F. (Marieke) van, Lichtner, P. (Peter), Kunst, H.P.M. (Henricus P. M.), Feenstra, I. (Ilse), Admiraal, R.J.C. (Ronald J. C.), van Dooren, M.F. (M. F.), de Gier, H.H.W. (H. H.W.), Hoefsloot, E.H. (Lies), Schroeff, M.P. (Marc) van der, Kant, S.G. (Sarina), Rotteveel, L.J.C. (L. J.C.), Frints, S.G.M. (Suzanna), Hof, J.R. (J. R.), Stokroos, R.J. (Robert Jan), Vanhoutte, E.K. (Els), Admiraal, R.J. (Ronald), Feenstra, I. (I.), Kremer, H. (H.), Kunst, H.P.M. (Henricus P.M.), Pennings, R.J.E. (Ronald J.E.), Yntema, H.G. (H. G.), Essen, J.A. (Anthonie) van, Free, R.H. (Rolien), Klein-Wassink, J.S. (J. S.), Yntema, H.G., Pennings, R.J.E. (Ronald J. E.), and Kremer, H. (Hannie)

Abstract

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of LMX1A, which is essential for DNA binding. The second variant, c.290G > C (p.Cys97Ser), predicted to affect a zinc-binding residue of the second LIM domain that is involved in protein–protein interactions. Bi-allelic deleterious variants of Lmx1a are associated with a complex phenotype in mice, including deafness and vestibular defects, due to arrest of inner ear development. Although Lmx1a mouse mutants demonstrate neurological, skeletal, pigmentation and reproductive system abnormalities, no syndromic features were present in the participating subjects of either family. LMX1A has previously been suggested as a candidate gene for intellectual disability, but our data do not support this, as affected subjects displayed normal cognition. Large variability was observed in the age of onset (a)symmetry, severity and progression rate of HI. About half of the affected individuals displayed vestibular dysfunction and experienced symptoms thereof. The late-onset progressive phenotype and the absence of cochleovestibular malformations on computed tomography scans indicate that heterozygous defects of LMX1A do not result in severe developmental abnormalities in humans. We propose that a single LMX1A wild-type copy is sufficient for normal development but insufficient for maintenance of cochleovestibular function. Alternatively, minor cochleovestibular developmental abnormalities could eventually lead to the progressive phenotype seen in the families.

Published
2018
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14. Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Author

Genetica, Genetica Klinische Genetica, Child Health, 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., Genetica, Genetica Klinische Genetica, Child Health, 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., and Schraders, M.

Published
2018

15. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Author

Wesdorp, M, Gans, P, Schraders, M, Oostrik, J, Huynen, MA, Venselaar, H, Beynon, AJ, van Gaalen, J, Piai, V, Voermans, N, van Rossum, MM, Hartel, B P, Lelieveld, SH, Wiel, L, Verbist, B, Rotteveel, LJ, van Dooren, Marieke, Lichtner, P, Kunst, HPM, Feenstra, I, Admiraal, RJC, Yntema, HG, Hoefsloot, EH, Pennings, RJE, Kremer, H, Wesdorp, M, Gans, P, Schraders, M, Oostrik, J, Huynen, MA, Venselaar, H, Beynon, AJ, van Gaalen, J, Piai, V, Voermans, N, van Rossum, MM, Hartel, B P, Lelieveld, SH, Wiel, L, Verbist, B, Rotteveel, LJ, van Dooren, Marieke, Lichtner, P, Kunst, HPM, Feenstra, I, Admiraal, RJC, Yntema, HG, Hoefsloot, EH, Pennings, RJE, and Kremer, H

Published
2018

16. Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1 , and investigation into the involvement of Fuchs corneal dystrophy

Author

Wesdorp, M., primary, Schreur, V., additional, Beynon, A.J., additional, Oostrik, J., additional, van de Kamp, J.M., additional, Elting, M.W., additional, van den Boogaard, M.-J.H., additional, Feenstra, I., additional, Admiraal, R.J.C., additional, Kunst, H.P.M., additional, Hoyng, C.B., additional, Kremer, H., additional, Yntema, H.G., additional, Pennings, R.J.E., additional, and Schraders, M., additional

Published
2018
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17. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands

Author

Seco, C.Z. (Celia Zazo), Wesdorp, M. (Mieke), Feenstra, I. (Ilse), Pfundt, R. (Rolph), Hehir-Kwa, J. (Jayne), Lelieveld, S.H. (Stefan H.), Castelein, S. (Steven), Gilissen, C. (Christian), Wijs, I.J. (Ilse) de, Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Kunst, H.P.M. (Henricus P.M.), van de Kamp, J.M. (Jiddeke M.), Tamminga, S. (Saskia), Houweling, A.C. (Arjan), Plomp, A. (Astrid), Maas, S.M. (Saskia), de Koning Gans, P.A.M. (P. A M), Kant, S.G. (Sarina), De Geus, C.M. (Christa M.), Frints, S.G.M. (Suzanna), Vanhoutte, E.K. (Els), Dooren, M.F. (Marieke) van, Boogaard, M.H. (Marie-José Henriëtte) van den, Scheffer, H. (Hans), Nelen, M.R. (Marcel), Kremer, H. (Hannie), Hoefsloot, E.H. (Lies), Schraders, M. (Margit), Yntema, H.G., Seco, C.Z. (Celia Zazo), Wesdorp, M. (Mieke), Feenstra, I. (Ilse), Pfundt, R. (Rolph), Hehir-Kwa, J. (Jayne), Lelieveld, S.H. (Stefan H.), Castelein, S. (Steven), Gilissen, C. (Christian), Wijs, I.J. (Ilse) de, Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Kunst, H.P.M. (Henricus P.M.), van de Kamp, J.M. (Jiddeke M.), Tamminga, S. (Saskia), Houweling, A.C. (Arjan), Plomp, A. (Astrid), Maas, S.M. (Saskia), de Koning Gans, P.A.M. (P. A M), Kant, S.G. (Sarina), De Geus, C.M. (Christa M.), Frints, S.G.M. (Suzanna), Vanhoutte, E.K. (Els), Dooren, M.F. (Marieke) van, Boogaard, M.H. (Marie-José Henriëtte) van den, Scheffer, H. (Hans), Nelen, M.R. (Marcel), Kremer, H. (Hannie), Hoefsloot, E.H. (Lies), Schraders, M. (Margit), and Yntema, H.G.

Abstract

Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Two hundred index patients, mostly of Dutch origin, with presumed hereditary HI underwent WES followed by targeted analysis of an HI gene panel of 120 genes. We found causative variants underlying the HI in 67 of 200 patients (33.5%). Eight of these patients have a large homozygous deletion involving STRC, OTOA or USH2A, which could only be identified by copy number variation detection. Variants of uncertain significance were found in 10 patients (5.0%). In the remaining 123 cases, no potentially causative variants were detected (61.5%). In our patient cohort, causative variants in GJB2, USH2A, MYO15A and STRC, and in MYO6 were the leading causes for autosomal recessive and dominant HI, respectively. Segregation analysis and functional analyses of variants of uncertain significance will probably further increase the diagnostic yield of WES.

Published
2017
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18. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Author

Wesdorp, M., Kamp, J.M. van de, Hensen, E.F., Schraders, M., Oostrik, J., Yntema, H.G., Feenstra, I., Admiraal, R.J.C., Kunst, H.P.M., Tekin, M., Kanaan, M., Kremer, H., Pennings, R.J.E., Wesdorp, M., Kamp, J.M. van de, Hensen, E.F., Schraders, M., Oostrik, J., Yntema, H.G., Feenstra, I., Admiraal, R.J.C., Kunst, H.P.M., Tekin, M., Kanaan, M., Kremer, H., and Pennings, R.J.E.

Abstract

Contains fulltext : 174528.pdf (publisher's version ) (Closed access), DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29)). The fourth mutation is the known c.3232dup (p.Arg1078Profs*6) mutation. Longitudinal audiometric analyses in one of the subjects revealed that HI was stable over a period of 15 years. Vestibular function was normal. Predicted effects of the mutations do not explain the relatively mild phenotype in the presented subjects, whereas location of the mutation might well contribute to the milder HI in one of the subjects. It is known that isoform classes TRIOBP-4 and TRIOBP-5 are important for stereocilia stability and rigidity. To our knowledge, p.Gly1672* is the first pathogenic variant identified in DFNB28 that does not affect isoform class TRIOBP-4. This suggests that a single TRIOBP copy to encode wildtype TRIOBP-4 is insufficient for normal hearing, and that at least one TRIOBP copy to encode TRIOBP-5 is indispensable for normal inner ear function. Furthermore, this study demonstrates that DFNB28 can be milder than reported so far and that mutations in TRIOBP are thus associated with a heterogeneous phenotype.

Published
2017

20. Allelic mutations of KITLG, encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2

Author

Zazo Seco, C. (Celia), Serrão De Castro, L. (Luciana), Nierop, J.W.I. van, Morín, M. (Matías), Jhangiani, S.N. (Shalini N.), Verver, E.J.J. (Eva J. J.), Schraders, M. (Margit), Maiwald, N. (Nadine), Wesdorp, M. (Mieke), Venselaar, H. (Hanka), Spruijt, L. (Liesbeth), Oostrik, J. (Jaap), Schoots, J. (Jeroen), Reeuwijk, J. (Jeroen) van, Lelieveld, S.H. (Stefan H.), Huygen, P.L.M. (Patrick), Insenser, M. (María), Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Hoefsloot, E.H. (Lies), Arias-Vásquez, A. (Alejandro), Ligt, J. (Joep) de, Yntema, H.G., Jansen, J.H. (Joop H.), Muzny, D. (Donna), Huls, G. (Gerwin), Rossum, M.M. (Michelle) van, Lupski, J.R. (James R.), Moreno-Pelayo, M.A. (Miguel Angel), Kunst, H.P.M. (Henricus P.M.), Kremer, H. (Hannie), Zazo Seco, C. (Celia), Serrão De Castro, L. (Luciana), Nierop, J.W.I. van, Morín, M. (Matías), Jhangiani, S.N. (Shalini N.), Verver, E.J.J. (Eva J. J.), Schraders, M. (Margit), Maiwald, N. (Nadine), Wesdorp, M. (Mieke), Venselaar, H. (Hanka), Spruijt, L. (Liesbeth), Oostrik, J. (Jaap), Schoots, J. (Jeroen), Reeuwijk, J. (Jeroen) van, Lelieveld, S.H. (Stefan H.), Huygen, P.L.M. (Patrick), Insenser, M. (María), Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Hoefsloot, E.H. (Lies), Arias-Vásquez, A. (Alejandro), Ligt, J. (Joep) de, Yntema, H.G., Jansen, J.H. (Joop H.), Muzny, D. (Donna), Huls, G. (Gerwin), Rossum, M.M. (Michelle) van, Lupski, J.R. (James R.), Moreno-Pelayo, M.A. (Miguel Angel), Kunst, H.P.M. (Henricus P.M.), and Kremer, H. (Hannie)

Abstract

Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286-303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with NS-UHL/AHL as a dominant trait with reduced penetrance. By screening a panel of probands with NS-UHL/AHL, we found an additional mutation, c.200-202del (p.His67-Cys68delinsArg). In vitro studies revealed that the p.His67-Cys68delinsArg transmembrane isoform of KITLG is not detectable at the cell membrane, supporting pathogenicity. KITLG encodes a ligand for the KIT receptor. Also, KITLG-KIT signaling and MITF are suggested to mutually interact in melanocyte development. Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands. A heterozygous missense mutation, c.310C>G (p.Leu104Val), that segregated with WS2 was identified in a small family. In vitro studies revealed that the p.Leu104Val transmembrane isoform of KITLG is located at the cell membrane, as is wild-type KITLG. However, in culture media of transfected cells, the p.Leu104Val soluble isoform of KITLG was reduced, and no soluble p.His67-Cys68delinsArg and p.Ser96Ter KITLG could be detected. These data suggest that mutations in KITLG associated with NS-UHL/AHL have a loss-of-function effect. We speculate that the mechanism of the mutation underlying WS2 and leading to membrane incorporation and reduced secretion of KITLG occurs via a dominant-negative or gain-of-function effect. Our study unveils different phenotypes associated with KITLG, previously associated with pigmentation abnormalities, and will thereby improve the genetic counseling given to individuals with KITLG variants.

Published
2015
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22. Een inventariserend veldonderzoek door middel van proefsleuven in het plangebied Best-Molenstraat

Author

Wesdorp, M., Archeologisch Centrum Vrije Universiteit, and VUhbs archeologie

Subjects
Middeleeuwen laat A: 1050 - 1250 nC (LMEA), Middeleeuwen vroeg D: 900 - 1050 nC (VMED), Middeleeuwen laat B: 1250 - 1500 nC (LMEB), Archaeology, Nieuwe tijd: 1500 - heden (NT), Moesbed, Economie - Akker/tuin (ELA), Infrastructuur - Percelering/verkaveling (IPER), Proefsleuven, Middeleeuwen: 450 - 1500 nC (XME), Proefputten/proefsleuven, archeologie
Published
2011

23. Een archeologische opgraving in het plangebied Nieuwe Naaldhorst, gemeente Naaldwijk

Author

Koot, C., Wesdorp, M., Cees Koot en Mara Wesdorp, Amsterdam : Archeologisch Centrum Vrije Universiteit, Hendrik Brunsting Stichting, and Archeologisch Centrum Vrije Universiteit - Hendrik Brunsting Stichting

Subjects
opgraving, Middeleeuwen, roodbakkend, archeozoologie, Nieuwe Tijd (NT), opgraving/opgraven DO (AOP), Afzettingen, losse vondsten, Omgeving, Naaldwijk, IJzertijd, Late Middeleeuwen (MEL), Archaeology, aardewerk, Geen vindplaats, Akker (APVV.AK), IJzertijd (IJZ), Geomorfologie, Niet aangetroffen, vicus, Klei, Rund, Handgevormde ceramiek, archeologie
Abstract

Lit.opg., bijl.

Published
2011

27. ZAN 26

Author

Wesdorp, M., Lascaris, M.A., and ACVU-HBS

Subjects
Archaeology
Published
2009
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28. Bewoningssporen uit de IJzertijd in het plangebied de Mierbeek te Esbeek, gemeente Hilvarenbeek

Author

Wesdorp, M. and Archeologisch Centrum Vrije Universiteit - Hendrik Brunsting Stichting

Subjects
Huisplattegrond, opgraving, sporenclusters, Romeinse Tijd (ROM), proefputten/proefsleuven IVO-P (APP), Proefsleuven, opgraving/opgraven DO (AOP), Kuilen, Middeleeuwen (ME), losse vondsten, Vuursteen, greppels, Archaeology, Erf, IJzertijd (IJZ), Omheining, Type Oss-Ussen 4, bewoning (inclusief verdediging) onbepaald (BEWV.X), Plaggendek (APVV.PDEK), archeologie
Published
2007

30. Archeologisch onderzoek aan de Beekseweg te Lieshout (gemeente Laarbeek, Noord-Brabant)

Author

Hiddink, H., Beurden, L. van, Bink, M., Boreel, G., Deeben, Jos, Doesburg, J. van, Groenewoudt, Bert J., Haaster, H. van, Weerden, J. van der, Wesdorp, M., Henk Hiddink, met bijdragen van Liesbeth van Beurden ... [et al.], and Archeologisch Centrum Vrije Universiteit

Subjects
IJzertijd, Organisch materiaal, Landschappen, Romeinse tijd, Anorganisch materiaal, Archaeology, Vondstanalyse, Middeleeuwen, Bronstijd, archeologie, steentijd
Abstract

Lit.opg.

Published
2005

32. Opgravingen op het Rosveld bij Nederweert 1 : landschap en bewoning in de IJzertijd, Romeinse Tijd en Middeleeuwen

Author

Hiddink, H., Bink, M., Boreel, G., Deeben, Jos, Hänninen, K., Siemons, H., Schabbink, M., Wesdorp, M., Wyns, S., Henk Hiddink, met bijdragen van Martijn Bink ... [et al.], and Archeologisch Centrum Vrije Universiteit

Subjects
IJzertijd, Organisch materiaal, Landschappen, Romeinse tijd, Anorganisch materiaal, Archaeology, Middeleeuwen, nederzettingen, archeologie
Abstract

Lit.opg.

Published
2005

36. Zuidnederlandse Archeologische Rapporten 58

Author

Hoogendijk, T., Hiddink, H.A., Boreel, G.L., Haasteren, M. van, Hebinck, K.A., Jozen, W.J.M.M., Kampen, J.C.G. van, Kerckhove, J. Van, Renswoude, J. van, Sinke, A., Wesdorp, M., Meer, W. van der, Kubistal, P.S., and VUhbs archeologie

Subjects
Archaeology, Nederzetting, onbepaald (NX), Temporal coverage: Prehistorie - Nieuwe Tijd
Published
2018
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37. Zuidnederlandse Archeologische Rapporten 44

Author

Lascaris, M.A., Boreel, G.L., Elstrodt, I., Groot, M., Kerckhaert, K.-J.R., Kerckhove, J. Van, Wesdorp, M., Meer, W. van der, Smits, E., Verhoeven, A.A.A., and VUhbs archeologie

Subjects
Archaeology, Temporal coverage: IJzertijd - Middeleeuwen, Nederzetting, onbepaald (NX)
Published
2018
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38. Zuidnederlandse Archeologische Rapporten 61

Author

Hiddink, H.A., Boreel, G.L., Bruel, L. van den, Haasteren, M. van, Hebinck, K.A., Renswoude, J. van, Wesdorp, M., Meer, W. van der, Kubistal, P., and VUhbs archeologie

Subjects
Archaeology, Nederzetting, onbepaald (NX), Temporal coverage: Prehistorie - Nieuwe Tijd
Published
2018
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39. Zuidnederlandse Archeologische Notities 257

Author

Kerckhaert, K-J.R., Wesdorp, M., and VUhbs archeologie

Subjects
Archaeology, Romeinse tijd: 12 vC - 450 nC (ROM), Begraving - Urnenveld (GVCU), Karrenpad, Temporal coverage: Prehistorie, Nederzetting, onbepaald (NX), Proefsleuven, Middeleeuwen: 450 - 1500 nC (XME), crematiegraven
Published
2018
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40. Zuidnederlandse Archeologische Rapporten 59

Author

Hiddink, H.A., Sinke, A., Wesdorp, M., Aarts, J.G., Meer, W. van der, Smits, E., Groot, M., and VUhbs archeologie

Subjects
Archaeology, Begraving, onbepaald (GX), Nederzetting, onbepaald (NX), Temporal coverage: Late-IJzertijd - Volle Middeleeuwen
Published
2018
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41. Zuidnederlandse Archeologische Notities 530

Author

Schurmans, M.D.R., Wesdorp, M., Groenhuijzen, M.R., and VUhbs archeologie

Subjects
Archaeology, Temporal coverage: Late Prehistorie - Nieuwe Tijd, Inventariserend veldonderzoek, Nederzetting, onbepaald (NX), Proefsleuven
Published
2018
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43. Zuidnederlandse Archeologische Rapporten 50

Author

Boer, E. de, Hiddink, H.A., Beeren, Z., Boreel, G.L., Elstrodt, I., Wesdorp, M., Haaster, H. van, Meer, W. van der, Ostkamp, S., and VUhbs archeologie

Subjects
Temporal coverage: Prehistorie - Middeleeuwen, Archaeology, Nederzetting, onbepaald (NX)
Published
2018
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44. Opgraving Helmond-Markt 14a-14b

Author

Schurmans, M.D.R., VUhbs archeologie, Berkmortel, B.J.H.M. van den, Beurden, L. van, Boreel, G.L., Groot, M., Wesdorp, M., Jozen, W.J.M.M., Koopman, A.A., and Rijns, B.

Subjects
Middeleeuwen laat A: 1050 - 1250 nC (LMEA), Onbekend (XXX), Temporal coverage: Middeleeuwen t/m Nieuwe Tijd, Nieuwe tijd C: 1850 - heden (NTC), Middeleeuwen vroeg D: 900 - 1050 nC (VMED), Archaeology, Middeleeuwen laat: 1050 - 1500 nC (LME), Middeleeuwen laat B: 1250 - 1500 nC (LMEB), Nieuwe tijd B: 1650 - 1850 nC (NTB), Nieuwe tijd A: 1500 - 1650 nC (NTA), Nederzetting - Stad (NS), Middeleeuwen vroeg C: 725 - 900 nC (VMEC)
Published
2018
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45. Zuidnederlandse Archeologische Notities 369

Author

Bink, M., Brouwer, R., Boreel, G.L., Brink, V.B. van den, Groot, M., Haaster, H. van, Kampen, J.C.G. van, Kubistal, P., Renswoude, J. van, Sinke, A.C., Wesdorp, M., VUhbs, and VUhbs Archeologie

Subjects
IJzertijd: 800 - 12 vC (IJZ), Temporal coverage: 1629, Middeleeuwen laat: 1050 - 1500 nC (LME), Archaeology, Bronstijd: 2000 - 800 vC (BRONS), Nieuwe tijd: 1500 - heden (NT), Archeologisch onderzoek
Published
2016
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46. Zuidnederlandse Archeologische Rapporten 56

Author

Renswoude, J. van, Habermehl, D.S., Baetsen, S., Beeren, Z., Boreel, G., Brinkhuizen, D., Groot, M., Haaster, H. van, Jozen, W., Kampen, J. van, Overbeek, B., Wesdorp, M., Zeiler, J., and VUhbs

Subjects
Nederzetting - Borg/stins/versterkt huis (NVB), Archaeology, Versterking - Wal-/vluchtburcht (VWB), Nederzetting, onbepaald (NX), Middeleeuwen: 450 - 1500 nC (XME), Versterking - Motte/kasteelheuvel/vliedberg (VKM)
Published
2016
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47. Archeologisch onderzoek op de Habraken te Veldhoven. Twee unieke nederzettingen uit het Laat Neolithicum en de Midden Bronstijd en een erf uit de Volle Middeleeuwen

Author

Kampen, J.C.G. van, Brink, V.B. van den, Devriendt, I.I.J.A.L.M., Exaltus, R., Paulussen, R., Gijn, A. van, Siebelinkg, M., Kubiak-Martens, L., Waaijen, M. van, Koot, C.W., Wesdorp, M., and VUhbs archeologie, Amsterdam

Subjects
Veldhoven, Archaeology, Middeleeuwen laat: 1050 - 1500 nC (LME), Nederzetting, onbepaald (NX), Neolithicum laat: 2850 - 2000 vC (NEOL), Bronstijd midden: 1800 - 1100 vC (BRONSM), Neolithicum midden B: 3400 - 2850 vC (NEOMB)
Published
2014
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48. Zuidnederlandse Archeologische Rapporten 52

Author

Kampen, J.C.G. van, Brink, V.B. van den, Devriendt, I.I.J.A.L.M., Exaltus, R., Paulussen, R., Gijn, A. van, Siebelinkg, M., Kubiak-Martens, L., Waaijen, M. van, Koot, C.W., Wesdorp, M., and VUhbs archeologie, Amsterdam

Subjects
Veldhoven, Archaeology, Middeleeuwen laat: 1050 - 1500 nC (LME), Nederzetting, onbepaald (NX), Neolithicum laat: 2850 - 2000 vC (NEOL), Bronstijd midden: 1800 - 1100 vC (BRONSM), Neolithicum midden B: 3400 - 2850 vC (NEOMB)
Published
2014
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49. Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Author

Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE, Pennings RJE, and Kremer H

Subjects
Humans, Female, Male, Ikaros Transcription Factor genetics, Cohort Studies, Mutation, Missense, Exome Sequencing, Genetic Predisposition to Disease, Gene Frequency, Adult, Child, Deafness genetics, Exome genetics, Hearing Loss genetics, Pedigree
Abstract

Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing. One reason is that pathogenic variants are located in 'novel' deafness genes. A variant prioritization approach was used to identify novel (candidate) genes for HL. Exome-wide sequencing data were assessed for subjects with presumed hereditary HL that remained unexplained in medical genetic testing by gene-panel analysis. Cases in group AD had presumed autosomal dominantly inherited HL (n = 124), and in group AR, presumed autosomal recessive HL (n = 337). Variants in known and candidate deafness genes were prioritized based on allele frequencies and predicted effects. Selected variants were tested for their co-segregation with HL. Two cases were solved by variants in recently identified deafness genes (ABHD12, TRRAP). Variant prioritization also revealed potentially causative variants in candidate genes associated with recessive and X-linked HL. Importantly, missense variants in IKZF2 were found to co-segregate with dominantly inherited non-syndromic HL in three families. These variants specifically affected Zn 2+ -coordinating cysteine or histidine residues of the zinc finger motifs 2 and 3 of the encoded protein Helios. This finding indicates a complex genotype-phenotype correlation for IKZF2 defects, as this gene was previously associated with non-syndromic dysfunction of the immune system and ICHAD syndrome, including HL. The designed strategy for variant prioritization revealed that IKZF2 variants can underlie non-syndromic HL. The large number of candidate genes for HL and variants therein stress the importance of inclusion of family members for variant prioritization., (© 2024. The Author(s).)

Published
2024
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50. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Author

Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, and van Bokhoven H

Subjects
Adult, Bone and Bones metabolism, Extracellular Matrix Proteins metabolism, Facial Paralysis etiology, Facial Paralysis genetics, Facial Paralysis metabolism, Family, Female, Genetic Diseases, X-Linked genetics, Genetic Variation genetics, Glycoproteins metabolism, Hearing Loss genetics, Heterozygote, Humans, Male, Pedigree, Phenotype, Phosphoproteins metabolism, Exome Sequencing methods, Extracellular Matrix Proteins genetics, Facial Paralysis congenital, Glycoproteins genetics, Otosclerosis genetics, Phosphoproteins genetics
Abstract

Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis., Methods: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using either Sanger sequencing or molecular inversion probes combined with massive parallel sequencing in 89 otosclerosis families, 1604 unrelated affected subjects, and 1538 unscreened controls., Results: Exome sequencing in the HCFP family led to the identification of a rare segregating heterozygous frameshift variant p.(Gln425Lysfs*38) in MEPE. As the HL phenotype in this family resembled otosclerosis, we performed variant burden and variance components analyses in a large otosclerosis cohort and demonstrated that nonsense and frameshift MEPE variants were significantly enriched in affected subjects (p = 0.0006-0.0060)., Conclusion: MEPE exerts its function in bone homeostasis by two domains, an RGD and an acidic serine aspartate-rich MEPE-associated (ASARM) motif inhibiting respectively bone resorption and mineralization. All variants associated with otosclerosis are predicted to result in nonsense mediated decay or an ASARM-and-RGD-truncated MEPE. The HCFP variant is predicted to produce an ASARM-truncated MEPE with an intact RGD motif. This difference in effect on the protein corresponds with the presumed pathophysiology of both diseases, and provides a plausible molecular explanation for the distinct phenotypic outcome.

Published
2019
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