Search Results - "van de Kamp, J J"

Detection of people at risk of developing a first psychosis: comparison of two recruitment strategies by Rietdijk, J., Klaassen, R., Ising, H., Dragt, S., Nieman, D. H., van de Kamp, J., Cuijpers, P., Linszen, D., van der Gaag, M.

“…Rietdijk J, Klaassen R, Ising H, Dragt S, Nieman DH, van de Kamp J, Cuijpers P, Linszen D, van der Gaag M. Detection of people at risk of developing a first…”
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Clinical features and X-inactivation in females heterozygous for creatine transporter defect by van de Kamp, JM, Mancini, GMS, Pouwels, PJW, Betsalel, OT, van Dooren, SJM, de Koning, I, Steenweg, ME, Jakobs, C, van der Knaap, MS, Salomons, GS

“…van de Kamp JM, Mancini GMS, Pouwels PJW, Betsalel OT, van Dooren SJM, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS. Clinical features and…”
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The Diversity of Nitrogen-Cycling Microbial Genes in a Waste Stabilization Pond Reveals Changes over Space and Time that Is Uncoupled to Changing Nitrogen Chemistry by Rose, A., Padovan, A., Christian, K., van de Kamp, J., Kaestli, M., Tsoukalis, S., Bodrossy, L., Gibb, K.

“…Nitrogen removal is an important process for wastewater ponds prior to effluent release. Bacteria and archaea can drive nitrogen removal if they possess the…”
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The etiological evaluation of sensorineural hearing loss in children by 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.

“…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…”
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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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Equivalent currents associated with morning-sector geomagnetic Pc5 pulsations during auroral substorms by Kauristie, K., Uspensky, M. V., Kleimenova, N. G., Kozyreva, O. V., Van De Kamp, M. M. J. L., Dubyagin, S. V., Massetti, S.

“…Space and time variations of equivalent currents during morning-sector Pc5 pulsations (T  ∼  2–8 min) on 2 days (18 January and 19 February 2008) are studied…”
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The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits by Jansen, C., Parchi, P., Jelles, B., Gouw, A. A., Beunders, G., van Spaendonk, R. M. L., van de Kamp, J. M., Lemstra, A. W., Capellari, S., Rozemuller, A. J. M.

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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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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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Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate) by LANDSMEER-BEKER, E. A, MASSA, G. G, MAASWINKEL-MOOY, P. D, VAN DE KAMP, J. J. P, PAPAPOULOS, S. E

“…Osteoporosis is an important feature of osteogenesis imperfecta (OI). So far, no effective medical treatment is available. We treated three boys with severe OI…”
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Medium-scale 4-D ionospheric tomography using a dense GPS network by van de Kamp, M. M. J. L.

“…The ionosphere above Scandinavia in December 2006 is successfully imaged by 4-dimensional tomography using the software package MIDAS from the University of…”
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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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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 by Velde, Hedwig M., Vaseghi-Shanjani, Maryam, Smits, Jeroen J., Ramakrishnan, Gayatri, Oostrik, Jaap, Wesdorp, Mieke, Astuti, Galuh, Yntema, Helger G., Hoefsloot, Lies, Lanting, Cris P., Huynen, Martijn A., Lehman, Anna, Turvey, Stuart E., Pennings, Ronald J. E., Kremer, Hannie

“…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…”
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The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis by Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei-Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H. W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin-ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J. H., Pennings, Ronald, Liu, Xue Zhong

“…TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies…”
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

“…Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct…”
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

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Mesenchymal stem cells can be recruited to wounded tissue via hepatocyte growth factor‐loaded biomaterials by Kamp, J., Paefgen, V., Wöltje, M., Böbel, M., Jaekel, J., Rath, B., Labude, N., Knüchel, R., Jahnen‐Dechent, W., Neuss, Sabine

“…Mesenchymal stem cells (MSC) are precursor cells of mesodermal tissue and, because of their trophic phenotype, they are known to play beneficial roles in wound…”
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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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Spectra of equatorial total electron content derived from GPS signals by VAN DE KAMP, M. M. J. L, CANNON, P. S

“…High cadence GPS TEC signals collected on Ascension Island, South Atlantic Ocean, during sunspot minimum, and in Vanimo, Papua New Guinea, over half a solar…”
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A large retinoblastoma detected in a fetus at 21 weeks of gestation by Maat-Kievit, J A, Oepkes, D, Hartwig, N G, Vermeij-Keers, C, van Kamp, I L, van de Kamp, J J

“…The facial tumour described here is the first reported case of a large retinoblastoma detected early in pregnancy and adds another item to the differential…”
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