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2. Male patients affected by mosaic PCDH19 mutations: five new cases

Author

de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., and Brilstra, E. H.

Published
2017
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3. An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International

Author

Müller, R.U., Messchendorp, A.L., Birn, H., Capasso, G., Cornec-Le Gall, E., Devuyst, O., Eerde, A. van, Guirchoun, P., Harris, T., Hoorn, E.J., Knoers, N., Korst, U., Mekahli, D., Meur, Y., Nijenhuis, T., Ong, A.C., Sayer, J.A., Schaefer, F., Servais, A., Tesar, V., Torra, R., Walsh, S.B., Gansevoort, R.T., Müller, R.U., Messchendorp, A.L., Birn, H., Capasso, G., Cornec-Le Gall, E., Devuyst, O., Eerde, A. van, Guirchoun, P., Harris, T., Hoorn, E.J., Knoers, N., Korst, U., Mekahli, D., Meur, Y., Nijenhuis, T., Ong, A.C., Sayer, J.A., Schaefer, F., Servais, A., Tesar, V., Torra, R., Walsh, S.B., and Gansevoort, R.T.

Abstract

Contains fulltext : 252054.pdf (Publisher’s version ) (Open Access), Approval of the vasopressin V2 receptor antagonist tolvaptan-based on the landmark TEMPO 3:4 trial-marked a transformation in the management of autosomal dominant polycystic kidney disease (ADPKD). This development has advanced patient care in ADPKD from general measures to prevent progression of chronic kidney disease to targeting disease-specific mechanisms. However, considering the long-term nature of this treatment, as well as potential side effects, evidence-based approaches to initiate treatment only in patients with rapidly progressing disease are crucial. In 2016, the position statement issued by the European Renal Association (ERA) was the first society-based recommendation on the use of tolvaptan and has served as a widely used decision-making tool for nephrologists. Since then, considerable practical experience regarding the use of tolvaptan in ADPKD has accumulated. More importantly, additional data from REPRISE, a second randomized clinical trial (RCT) examining the use of tolvaptan in later-stage disease, have added important evidence to the field, as have post hoc studies of these RCTs. To incorporate this new knowledge, we provide an updated algorithm to guide patient selection for treatment with tolvaptan and add practical advice for its use.

Published
2022

5. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Author

Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, OʼRoak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm, Yalcinkaya, F, Bakkaloglu, S, Ozaltin, F, Comak, E, Krull, F, Schmitz-Hübner, Rupprecht, H, Muller, D, Dahlem, P, Hoppe, B, Wolfe, M, Weber, M, Vester, U, Bonzel, K, Nikolay, J, Hansmann, I, Wiefel, M, Orth, U, Pfleiderer, H, Pape, L, Morlot, Ehrich, J, Tonshoff, B, Schindera, F, Hoefele, J, Griebel, M, Broeking, E, Konrad, M, Radke, M, Brandis, M, Kirchhoff, A, Feygina, V, Springate, J, Ahmadzdeh, S, Gipson, D, Becker, A, Dharnidharka, V, Mark, P, Srivaths, P, Wilson, A, Kamil, E, Why, S, Pan, C, Kashtan, C, D’Alessandri, C, Trachtman, H, Kaplan, B, Joseph, M, Weiss, R, Thomas, S, Newberry, L, Koyun, M, Fathy, H, RybiSzuminska, A, Szczepanska, M, Dolezel, Z, Malina, M, Seeman, T, Honzik, T, Ferreira, P, Ferguson, M, Harvey, E, Chong, K, Sandford, R, Josifova, D, Bockenhauer, D, Sayer, J, Johnson, C, Senguttuvan, P, Pela, I, Knops, N, Levart, T, Neuhaus, T, Ayuso, C, Kindi, A, Knoers, N, Antignac, C, Radauer, W, Genzani, C, Berg, U, Klingenberg, C, Jones, C, Savarirayan, R, and Kausman, J

Published
2016
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7. Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child's future autonomy

Author

Tibben, A., Dondorp, W., Cornelis, C., Knoers, N., Brilstra, E., van Summeren, M., Bolt, I., Tibben, A., Dondorp, W., Cornelis, C., Knoers, N., Brilstra, E., van Summeren, M., and Bolt, I.

Abstract

In a previous study we found that parents of children with developmental delay (DD) favoured acceptance of unsolicited findings (UFs) for medically actionable conditions in childhood, but that preferences diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier status. Sometimes the child's future autonomy formed a reason for withholding UFs for the present, despite an unfavourable prognosis concerning the child's cognitive capabilities. This might be different for children undergoing whole exome sequencing (WES) for reasons other than DD and who are expected to exert future autonomy. This is the focus of the current study. We conducted nine qualitative, semi-structured interviews with parents of children, ages <1-15, after consenting to WES, but prior to feedback of results, and with three adolescent children. Several parents wished to receive any information that might in whatever way be relevant to the health and well-being of their child, and to a lesser extent wished the inclusion of information about non-actionable disorders and information concerning carrier status of autosomal recessive disorders. Although parents understood the rationale behind the centre's UFs disclosure policy, they also felt that they needed this information in order to be able to exert their parental responsibility and take good care of a child still dependent on them. Parents reason from their notion of parental responsibility but are also inclined to take adolescent children's preferences seriously and acknowledge the child's incipient autonomy as a ground for granting an increasing degree of self-determination on the road to adulthood.

Published
2021

9. GeNepher: building a data- and biobank for (suspected) hereditary renal disease

Author

Claus, L. R., Boulogne, F., Lilien, M. R., Rookmaaker, M. B., van der Zwaag, A., Nguyen, T. Q., Verhaar, M. C., Knoers, N. V. A. M., Deelen, P., Franke, L., de Borst, M. H., van Eerde, A. M., Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Institute for Organ Transplantation (GIOT), and Groningen Kidney Center (GKC)

Published
2020

23. Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

Author

Dufek, S., Cheshire, C., Levine, A.P., Trompeter, R.S., Issler, N., Stubbs, M., Mozere, M., Gupta, S., Klootwijk, E., Patel, V., Hothi, D., Waters, A., Webb, H., Tullus, K., Jenkins, L., Godinho, L., Levtchenko, E., Wetzels, J., Knoers, N., Teeninga, N., Nauta, J., Shalaby, M., Eldesoky, S., Kari, J.A., Thalgahagoda, S., Ranawaka, R., Abeyagunawardena, A., Adeyemo, A., Kristiansen, M., Gbadegesin, R., Webb, N.J., Gale, D.P., Stanescu, H.C., Kleta, R., Bockenhauer, D., Dufek, S., Cheshire, C., Levine, A.P., Trompeter, R.S., Issler, N., Stubbs, M., Mozere, M., Gupta, S., Klootwijk, E., Patel, V., Hothi, D., Waters, A., Webb, H., Tullus, K., Jenkins, L., Godinho, L., Levtchenko, E., Wetzels, J., Knoers, N., Teeninga, N., Nauta, J., Shalaby, M., Eldesoky, S., Kari, J.A., Thalgahagoda, S., Ranawaka, R., Abeyagunawardena, A., Adeyemo, A., Kristiansen, M., Gbadegesin, R., Webb, N.J., Gale, D.P., Stanescu, H.C., Kleta, R., and Bockenhauer, D.

Abstract

Item does not contain fulltext, BACKGROUND: Steroid-sensitive nephrotic syndrome (SSNS), the most common form of nephrotic syndrome in childhood, is considered an autoimmune disease with an established classic HLA association. However, the precise etiology of the disease is unclear. In other autoimmune diseases, the identification of loci outside the classic HLA region by genome-wide association studies (GWAS) has provided critical insights into disease pathogenesis. Previously conducted GWAS of SSNS have not identified non-HLA loci achieving genome-wide significance. METHODS: In an attempt to identify additional loci associated with SSNS, we conducted a GWAS of a large cohort of European ancestry comprising 422 ethnically homogeneous pediatric patients and 5642 ethnically matched controls. RESULTS: The GWAS found three loci that achieved genome-wide significance, which explain approximately 14% of the genetic risk for SSNS. It confirmed the previously reported association with the HLA-DR/DQ region (lead single-nucleotide polymorphism [SNP] rs9273542, P=1.59x10(-43); odds ratio [OR], 3.39; 95% confidence interval [95% CI], 2.86 to 4.03) and identified two additional loci outside the HLA region on chromosomes 4q13.3 and 6q22.1. The latter contains the calcium homeostasis modulator family member 6 gene CALHM6 (previously called FAM26F). CALHM6 is implicated in immune response modulation; the lead SNP (rs2637678, P=1.27x10(-17); OR, 0.51; 95% CI, 0.44 to 0.60) exhibits strong expression quantitative trait loci effects, the risk allele being associated with lower lymphocytic expression of CALHM6. CONCLUSIONS: Because CALHM6 is implicated in regulating the immune response to infection, this may provide an explanation for the typical triggering of SSNS onset by infections. Our results suggest that a genetically conferred risk of immune dysregulation may be a key component in the pathogenesis of SSNS.

Published
2019

27. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author

D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.<Suffix>3rd</Suffix>, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Published
2016
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28. PATIENTS AFFECTED BY MOSAIC PCDH19 MUTATIONS: 5 NEW CASES

Author

Lange, I. de, Rump, P., Neuteboom, R., Augustijn, P., Hodges, K., Kistemaker, A., Brouwer, O., Mancini, G., Newman, H., Vos, Y., Helbig, K., Peeters-Scholte, C., Kriek, M., Knoers, N., Lindhout, D., Koeleman, B., Kempen, M. van, and Brilstra, E.

Published
2017

31. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Author

Stokman, M.F., Zwaag, B. van der, Kar, N.C.A.J. van de, Haelst, M.M. van, Eerde, A.M. van, Heijden, J.W. van der, Kroes, H.Y., Ippel, E., Schulp, A.J.A., Gassen, K.L.I. van, Rooij, I.A.L.M. van, Giles, R.H., Beales, P.L., Roepman, R., Arts, H.H., Bongers, E.M.H.F., Renkema, K.Y., Knoers, N., Reeuwijk, J. van, Lilien, M.R., Stokman, M.F., Zwaag, B. van der, Kar, N.C.A.J. van de, Haelst, M.M. van, Eerde, A.M. van, Heijden, J.W. van der, Kroes, H.Y., Ippel, E., Schulp, A.J.A., Gassen, K.L.I. van, Rooij, I.A.L.M. van, Giles, R.H., Beales, P.L., Roepman, R., Arts, H.H., Bongers, E.M.H.F., Renkema, K.Y., Knoers, N., Reeuwijk, J. van, and Lilien, M.R.

Abstract

Contains fulltext : 196363.pdf (Publisher’s version ) (Open Access), BACKGROUND: Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial symptoms, and genetic defects in a cohort with nephronophthisis-related ciliopathy, to improve early detection and genetic counseling. METHODS: Forty patients from 36 families with nephronophthisis-related ciliopathy were recruited at university medical centers and online. Comprehensive clinical and genotypic data were recorded. Patients without molecular diagnosis were offered genetic analysis. RESULTS: Of 40 patients, 45% had isolated nephronophthisis, 48% syndromic diagnosis, and 7% nephronophthisis with extrarenal features not constituting a recognizable syndrome. Patients developed ESRD at median 13 years (range 5-47). Median age of symptom onset was 9 years in both isolated and syndromic forms (range 5-26 vs. 5-33). Common presenting symptoms were fatigue (42%), polydipsia/polyuria (33%), and hypertension (21%). Renal ultrasound showed small-to-normal-sized kidneys, increased echogenicity (65%), cysts (43%), and abnormal corticomedullary differentiation (32%). Renal biopsies in eight patients showed nonspecific signs of chronic kidney disease (CKD). Twenty-three patients (58%) had genetic diagnosis upon inclusion. Thirteen of those without a genetic diagnosis gave consent for genetic testing, and a cause was identified in five (38%). CONCLUSIONS: Nephronophthisis is genetically and phenotypically heterogeneous and should be considered in children and young adults presenting with persistent fatigue and polyuria, and in all patients with unexplained CKD. As symptom onset can occur into adulthood, presymptomatic monitoring of kidney function in syndromic ciliopathy patients should continue until at least age 30.

Published
2018

32. Amiloride-hydrochlorothiazide versus indomethacin-hydrochlorothiazide in the treatment of nephrogenic diabetes insipidus

Author

Knoers, N. and Monnens, L.A.H.

Subjects
Hydrochlorothiazide -- Adverse and side effects, Indomethacin -- Evaluation, Amiloride -- Evaluation, Diabetes insipidus -- Drug therapy, Health
Abstract

Nephrogenic diabetes insipidus (NDI) is a disorder caused by an inability of the kidney to concentrate the urine and is characterized by frequent urination and thirst. If NDI is unrecognized in infants, severe water depletion, fever, convulsions, and brain damage can result. Hydrochlorothiazide (HCTZ), a diuretic, has been used with indomethacin to effectively treat NDI, but HCTZ can lower levels of potassium, while long-term treatment with indomethacin can have effects on the kidneys and other organs. The effectiveness of amiloride, a potassium-sparing diuretic, and HCTZ was compared with indomethacin and HCTZ in five boys (aged 5 to 16 years) with NDI. Blood chemistry and kidney function was similar when the patients were treated with either drug combination. However, patients given indomethacin with HCTZ also received potassium supplements, while patients on the other regimen maintained blood levels of potassium without supplementation. In addition, sodium levels, which tend to increase in NDI, were significantly lower when the amiloride combination was used. One patient discontinued the use of amiloride due to abdominal pain and anorexia. These results suggest that amiloride with HCTZ is as effective as indomethacin with HCTZ in treating NDI, and may cause fewer harmful side effects during long-term treatment. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

33. Male patients affected by mosaic PCDH19 mutations : five new cases

Author

de Lange, I M, Rump, P., Neuteboom, Rinze F., Augustijn, Paul B., Hodges, K, Kistemaker, A I, Brouwer, Oebele F., Mancini, Grazia M S, Newman, H A, Vos, Yvonne J., Helbig, Katherine L, Peeters-Scholte, C.M.P.C.D., Kriek, M., Knoers, N V, Lindhout, D, Koeleman, B P C, van Kempen, M J A, Brilstra, E H, de Lange, I M, Rump, P., Neuteboom, Rinze F., Augustijn, Paul B., Hodges, K, Kistemaker, A I, Brouwer, Oebele F., Mancini, Grazia M S, Newman, H A, Vos, Yvonne J., Helbig, Katherine L, Peeters-Scholte, C.M.P.C.D., Kriek, M., Knoers, N V, Lindhout, D, Koeleman, B P C, van Kempen, M J A, and Brilstra, E H

Published
2017

34. Male patients affected by mosaic PCDH19 mutations: five new cases

Author

Genetica Klinische Genetica, Child Health, Genetica, Genetica Groep Koeleman, Circulatory Health, Brain, Genetica Oper. Mangt Genoom Diagnostiek, de Lange, I M, Rump, P., Neuteboom, Rinze F., Augustijn, Paul B., Hodges, K, Kistemaker, A I, Brouwer, Oebele F., Mancini, Grazia M S, Newman, H A, Vos, Yvonne J., Helbig, Katherine L, Peeters-Scholte, C.M.P.C.D., Kriek, M., Knoers, N V, Lindhout, D, Koeleman, B P C, van Kempen, M J A, Brilstra, E H, Genetica Klinische Genetica, Child Health, Genetica, Genetica Groep Koeleman, Circulatory Health, Brain, Genetica Oper. Mangt Genoom Diagnostiek, de Lange, I M, Rump, P., Neuteboom, Rinze F., Augustijn, Paul B., Hodges, K, Kistemaker, A I, Brouwer, Oebele F., Mancini, Grazia M S, Newman, H A, Vos, Yvonne J., Helbig, Katherine L, Peeters-Scholte, C.M.P.C.D., Kriek, M., Knoers, N V, Lindhout, D, Koeleman, B P C, van Kempen, M J A, and Brilstra, E H

Published
2017

36. CLINICAL HETEROGENEITY AND ITS POTENTIAL THERAPEUTIC IMPLICATIONS IN CHILDREN WITH SCN2A-RELATED DISORDERS

Author

Ceulemans, B., Lederer, D., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Helbig, I, Kluger, G., Moller, R. S., Johannesen, K. M., Wolf, M., Masnada, S., Rubboli, G., Gardella, E., Milh, M., Villard, L., Mignot, C., Lardennois, C., Bourel-Ponchel, Emilie, Nava, C., Lesca, G., Gerard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Brilstra, E., Knoers, N., Doecker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brueckner, R., Pietz, J., Golla, G., Jillella, D., Afenjar, A., Linnet, K. M., Charles, P., Oiglane-Slik, E., Mantovani, J. F., Deprez, M., Scalais, E., Lagae, L., Nikanorova, M., Hjalgrim, H., Depienne, C., Scheidecker, S., Kremer, V, Doray, B., Alembik, y., University of British Columbia (UBC), Pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) - Hôpital de la Timone, Ecole Polytechnique Fédérale de Lausanne (EPFL), Université de Strasbourg (UNISTRA), Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Insulaire du Vivant et de l'Environnement (LIVE), Université de la Nouvelle-Calédonie (UNC), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Department of Child Neurology, Development and Rehabilitation [Hospital of Eastern Switzerland], Children's Hospital of Eastern Switzerland St.Gallen, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], IMEC (IMEC), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Statens seruminstitut, and Les Hôpitaux Universitaires de Strasbourg (HUS)

Subjects
[SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2016

38. Phenotypic familial aggregation in chronic chilblains

Author

Souwer, I.H., Smaal, D., Bor, J.H., Knoers, N., Lagro-Janssen, A.L.M., Souwer, I.H., Smaal, D., Bor, J.H., Knoers, N., and Lagro-Janssen, A.L.M.

Abstract

Contains fulltext : 170812.pdf (publisher's version ) (Closed access), BACKGROUND: Our clinical observations and two earlier studies indicate familial clustering to be involved in chronic chilblains. Demonstrating phenotypic familial aggregation is a next step to investigate the origin of familial clustering. OBJECTIVE: This study was initiated to assess evidence for phenotypic familial aggregation in chronic chilblains. METHODS: Using a case-control family design in a primary care setting, we computed the familial relative risk of at least one episode of chronic chilblains during life with 95% confidence intervals (CIs). The study population consisted of 192 relatives of 31 case probands (at least one confirmed episode of chronic chilblains). The control population consisted of 178 relatives of 31 sex- and age-matched index controls (no history of chronic chilblains). RESULTS: The familial relative risk of chronic chilblains was 3.6 (95% CI 1.9-7.3). Additional sensitivity analysis shows similar figures. CONCLUSION: We demonstrate robust phenotypic familial aggregation in chronic chilblains.

Published
2016

39. Wnt5a deficiency leads to anomalies in ureteric tree development, tubular epithelial cell organization and basement membrane integrity pointing to a role in kidney collecting duct patterning

Author

Pietilä, I. (Ilkka), Prunskaite-Hyyryläinen, R. (Renata), Kaisto, S. (Susanna), Tika, E. (Elisavet), van Eerde, A. M. (Albertien M.), Salo, A. M. (Antti M.), Garma, L. (Leonardo), Miinalainen, I. (Ilkka), Feitz, W. F. (Wout F.), Bongers, E. M. (Ernie M. H. F.), Juffer, A. (André), Knoers, N. V. (Nine V. A. M.), Renkema, K. Y. (Kirsten Y.), Myllyharju, J. (Johanna), Vainio, S. J. (Seppo J.), Pietilä, I. (Ilkka), Prunskaite-Hyyryläinen, R. (Renata), Kaisto, S. (Susanna), Tika, E. (Elisavet), van Eerde, A. M. (Albertien M.), Salo, A. M. (Antti M.), Garma, L. (Leonardo), Miinalainen, I. (Ilkka), Feitz, W. F. (Wout F.), Bongers, E. M. (Ernie M. H. F.), Juffer, A. (André), Knoers, N. V. (Nine V. A. M.), Renkema, K. Y. (Kirsten Y.), Myllyharju, J. (Johanna), and Vainio, S. J. (Seppo J.)

Abstract

The Wnts can be considered as candidates for the Congenital Anomaly of Kidney and Urinary Tract, CAKUT diseases since they take part in the control of kidney organogenesis. Of them Wnt5a is expressed in ureteric bud (UB) and its deficiency leads to duplex collecting system (13/90) uni- or bilateral kidney agenesis (10/90), hypoplasia with altered pattern of ureteric tree organization (42/90) and lobularization defects with partly fused ureter trunks (25/90) unlike in controls. The UB had also notably less tips due to Wnt5a deficiency being at E15.5 306 and at E16.5 765 corresponding to 428 and 1022 in control (p<0.02; p<0.03) respectively. These changes due to Wnt5a knock out associated with anomalies in the ultrastructure of the UB daughter epithelial cells. The basement membrane (BM) was malformed so that the BM thickness increased from 46.3 nm to 71.2 nm (p<0.01) at E16.5 in the Wnt5a knock out when compared to control. Expression of a panel of BM components such as laminin and of type IV collagen was also reduced due to the Wnt5a knock out. The P4ha1 gene that encodes a catalytic subunit of collagen prolyl 4-hydroxylase I (C-P4H-I) in collagen synthesis expression and the overall C-P4H enzyme activity were elevated by around 26% due to impairment in Wnt5a function from control. The compound Wnt5a+/-;P4ha1+/- embryos demonstrated Wnt5a-/- related defects, for example local hyperplasia in the UB tree. A R260H WNT5A variant was identified from renal human disease cohort. Functional studies of the consequence of the corresponding mouse variant in comparison to normal ligand reduced Wnt5a-signalling in vitro. Together Wnt5a has a novel function in kidney organogenesis by contributing to patterning of UB derived collecting duct development contributing putatively to congenital disease.

Published
2016

41. KOUNCIL : Kidney-Oriented Understanding of Correcting Ciliopathies

Author

Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., Knoers, N., Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., and Knoers, N.

Published
2015

43. Kinderurologie en etiologie : Radboudumc AGORA data- en biobank

Author

Feitz, W. F J, van Rooij, I. A L M, Bongers, E. M H F, Renkema, K. Y., Knoers, N. V A M, Dokter, E. M J, de Gier, R., Kortmann, B., Schreuder, M. F., Brunner, H. G., van der Zanden, L. F M, Roeleveld, N., Feitz, W. F J, van Rooij, I. A L M, Bongers, E. M H F, Renkema, K. Y., Knoers, N. V A M, Dokter, E. M J, de Gier, R., Kortmann, B., Schreuder, M. F., Brunner, H. G., van der Zanden, L. F M, and Roeleveld, N.

Published
2015

44. KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Author

Genetica Klinische Genetica, Nefrologie, Child Health, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, CMM, Circulatory Health, Brain, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica Groep Van Tintelen, Genetica, Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., Knoers, N., Genetica Klinische Genetica, Nefrologie, Child Health, CMM Groep Cuppen, Cancer, Genetica Sectie Genoomdiagnostiek, Genetica Medische Informatica, CMM, Circulatory Health, Brain, Hubrecht Institute with UMC, CMM Sectie Genomics and Bioinformatics, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Genetica Groep Van Tintelen, Genetica, Stokman, M., Oud, M., Van Reeuwijk, J., Lilien, M., Van De Kar, N., Nijman, I., Gilissen, C., Kroes, H. Y., Bongers, E., Geijsen, N., Kamsteeg, E., Cuppen, E., Roepman, R., Giles, R., Renkema, K., Arts, H., and Knoers, N.

Published
2015

45. Urine-derived Renal Epithelial Cells (URECs) as a source of biomaterial from ciliopathy patients for functional studies and diagnostics

Author

Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Divisie Beeld & Oncologie, Genetica, Child Health, Circulatory Health, Ajzeberg, H., Slaats, G., Stokman, M., Logister, I., Knoers, N., Giles, R., Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Divisie Beeld & Oncologie, Genetica, Child Health, Circulatory Health, Ajzeberg, H., Slaats, G., Stokman, M., Logister, I., Knoers, N., and Giles, R.

Published
2015

46. Kinderurologie en etiologie: Radboudumc AGORA data- en biobank

Author

Genetica, Child Health, Genetica Groep Van Tintelen, AIOS Psychiatrie, Feitz, W. F J, van Rooij, I. A L M, Bongers, E. M H F, Renkema, K. Y., Knoers, N. V A M, Dokter, E. M J, de Gier, R., Kortmann, B., Schreuder, M. F., Brunner, H. G., van der Zanden, L. F M, Roeleveld, N., Genetica, Child Health, Genetica Groep Van Tintelen, AIOS Psychiatrie, Feitz, W. F J, van Rooij, I. A L M, Bongers, E. M H F, Renkema, K. Y., Knoers, N. V A M, Dokter, E. M J, de Gier, R., Kortmann, B., Schreuder, M. F., Brunner, H. G., van der Zanden, L. F M, and Roeleveld, N.

Published
2015

48. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Author

Namavar, Y, Barth, Pg, Kasher, Pr, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, Ey, Ferriero, Dm, Basel-Vanagaite, L, Eggens, Vr, Krägeloh-Mann, I, De Meirleir, L, King, M, Graham JM Jr, von Moers, A, Knoers, N, Sztriha, L, Korinthenberg, R, Dobyns, Wb, Baas, F, Poll-The, Bt, Pch, Consortium, and Battini, R

Published
2011

50. KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

Author

Stokman, M, primary, Oud, M, additional, Reeuwijk, J Van, additional, Lilien, M, additional, De Kar, N Van, additional, Nijman, I, additional, Gilissen, C, additional, Kroes, HY, additional, Bongers, E, additional, Geijsen, N, additional, Kamsteeg, E, additional, Cuppen, E, additional, Roepman, R, additional, Giles, R, additional, Renkema, K, additional, Arts, H, additional, and Knoers, N, additional

Published
2015
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