Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Eline A. Verberne"'
Autor:
Shirley M. Lo-A-Njoe, Eline A. Verberne, Lars T. van der Veken, Eric Arends, J. Peter van Tintelen, Alex V. Postma, Mieke M. van Haelst
Publikováno v:
Cardiogenetics, Vol 13, Iss 3, Pp 106-112 (2023)
Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with a largely unknown etiology. We present a 6-year-old girl with Ebstein anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who ha
Externí odkaz:
https://doaj.org/article/b48491215f304c5baaefdf1e22601a93
Autor:
Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananília Silva, Haley McConkey, Raissa Relator, Michael A. Levy, Irene Valenzuela, Laura Trujillano, Amaia Lasa-Aranzasti, Berta Campos, Neus Castells, Eline A. Verberne, Saskia Maas, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. van Haelst, Bekim Sadikovic, Peter Henneman
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 14240 (2023)
JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, co
Externí odkaz:
https://doaj.org/article/cf4651b452c4446c909f1c60cf569a81
Autor:
Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 8001 (2022)
JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial fea
Externí odkaz:
https://doaj.org/article/eb24dc9067e04b99b978e8893b3f211c
Autor:
Eline A. Verberne, Shirley M. Lo‐A‐Njoe, Manon van Ginkel, Jet Zwolsman, Sylke Nikkels, Lauren Clement, Maartje de Vroomen, Maria L. G. Wever, Eric Arends, Hilda Holtsema, Petra J. Hajenius, Daphne Moreta, Ginette M. Ecury‐Goossen, Marcel M. A. M. Mannens, Hermien E. K. de Walle, Jorieke E. H. Bergman, Mieke M. van Haelst
Publikováno v:
Birth defects research. John Wiley and Sons Ltd
Birth defects research, 115(6), 595-604. John Wiley and Sons Ltd
Verberne, E A, Lo-A-Njoe, S M, van Ginkel, M, Zwolsman, J, Nikkels, S, Clement, L, de Vroomen, M, Wever, M L G, Arends, E, Holtsema, H, Hajenius, P J, Moreta, D, Ecury-Goossen, G M, Mannens, M M A M, de Walle, H E K, Bergman, J E H & van Haelst, M M 2023, ' Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao ', Birth defects research, vol. 115, no. 6, pp. 595-604 . https://doi.org/10.1002/bdr2.2153, https://doi.org/10.1002/bdr2.2153
Birth defects research, 115(6), 595-604. John Wiley and Sons Ltd
Verberne, E A, Lo-A-Njoe, S M, van Ginkel, M, Zwolsman, J, Nikkels, S, Clement, L, de Vroomen, M, Wever, M L G, Arends, E, Holtsema, H, Hajenius, P J, Moreta, D, Ecury-Goossen, G M, Mannens, M M A M, de Walle, H E K, Bergman, J E H & van Haelst, M M 2023, ' Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao ', Birth defects research, vol. 115, no. 6, pp. 595-604 . https://doi.org/10.1002/bdr2.2153, https://doi.org/10.1002/bdr2.2153
Background: Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). Methods: W
Autor:
Maria Ponson-Wever, Ivo Peters, Bas C. Stunnenberg, Mieke M. van Haelst, Monique M. Gerrits, Eline A. Verberne, Charlotte A. Haaxma
Publikováno v:
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers
Journal of Pediatric Neurology, 19, 03, pp. 189-192
Journal of Pediatric Neurology, 19(03), 189-192. IOS Press
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers Inc.
Stunnenberg, B, Ponson-Wever, M, Verberne, E, Peters, I, Gerrits, M, Haaxma, C & Van Haelst, M 2021, ' Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain ', Journal of Pediatric Neurology, vol. 19, no. 3, 2000024, pp. 189-192 . https://doi.org/10.1055/s-0040-1714067
Journal of Pediatric Neurology, 19, 189-192
Journal of Pediatric Neurology, 19, 03, pp. 189-192
Journal of Pediatric Neurology, 19(03), 189-192. IOS Press
Journal of Pediatric Neurology, 19(3):2000024, 189-192. Thieme Medical Publishers Inc.
Stunnenberg, B, Ponson-Wever, M, Verberne, E, Peters, I, Gerrits, M, Haaxma, C & Van Haelst, M 2021, ' Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain ', Journal of Pediatric Neurology, vol. 19, no. 3, 2000024, pp. 189-192 . https://doi.org/10.1055/s-0040-1714067
Journal of Pediatric Neurology, 19, 189-192
Congenital Insensitivity to Pain (CIP) is a rare disorder that is characterized by the inability to perceive pain. It is caused by bi-allelic inactivating mutations in the SCN9A gene, which encodes the pore-forming α-subunit of the nerve voltage-gat
Autor:
Ange Line Bruel, Katherine A. Bosanko, Abeltje M. Polstra, Agne Liedén, Marcel M.A.M. Mannens, R. Pfundt, Frédérick A. Mallette, Britt-Marie Anderlid, Kieran B. Pechter, Louise Rafael-Croes, Madhura Bakshi, Saskia M. Maas, Dagmar Glatz, R. Frank Kooy, Natalie Lippa, Philippe M. Campeau, Yuri A. Zarate, Jade England, Mieke M. van Haelst, Megan Boothe, Kosuke Izumi, Manon van Ginkel, Vimla Aggarwal, Anna Lehman, Eline A. Verberne, Zornitza Stark, Christopher M. Richmond, Marije Meuwissen, Darryl C. De Vivo, Pankaj B. Agrawal, Shuxiang Goh, Jennifer M. Lemons, Bertrand Isidor, Ayeshah Chaudhry, Causes Study, Emma Bedoukian, Nathaniel H. Robin, David A. Koolen, Sylvia Stockler, David Rodriguez-Buritica
Publikováno v:
Genetics in medicine
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383
Item does not contain fulltext PURPOSE: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability
Autor:
Nadjah F Wagner-Buitenweg, Mieke M. van Haelst, Hilda Holtsema, Eline A. Verberne, Meindert E. Manshande, Wallid Elhage
Publikováno v:
Clinical dysmorphology, 29(4), 182-185. Lippincott Williams and Wilkins
Clinical Dysmorphology, 29(4), 182-185. Lippincott Williams and Wilkins
Verberne, E A, Manshande, M E, Wagner-Buitenweg, N F, Elhage, W, Holtsema, H & van Haelst, M M 2020, ' Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol ', Clinical Dysmorphology, vol. 29, no. 4, pp. 182-185 . https://doi.org/10.1097/MCD.0000000000000331
Clinical Dysmorphology, 29(4), 182-185. Lippincott Williams and Wilkins
Verberne, E A, Manshande, M E, Wagner-Buitenweg, N F, Elhage, W, Holtsema, H & van Haelst, M M 2020, ' Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol ', Clinical Dysmorphology, vol. 29, no. 4, pp. 182-185 . https://doi.org/10.1097/MCD.0000000000000331
Autor:
Eline A. Verberne, Jonne M. Westermann, Tamar I. Vries, Ginette M. Ecury‐Goossen, Shirley M. Lo‐A‐Njoe, Meindert E. Manshande, Sonja Faries, Hans D. Veenhuis, Patricia Philippi, Farah A. Falix, Irsa Rosina‐Angelista, Maria Ponson‐Wever, Louise Rafael‐Croes, Patricia Thorsen, Eric Arends, Maartje Vroomen, Sietse Q. Nagelkerke, Martijn Tilanus, Lars T. Veken, Karin Huijsdens‐van Amsterdam, Anne‐Marie Kevie‐Kersemaekers, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. Haelst
Publikováno v:
American Journal of Medical Genetics Part A, 188(6), 1777-1791. Wiley-Liss Inc.
American journal of medical genetics. Part A, 188(6), 1777-1791. Wiley-Liss Inc.
Verberne, E A, Westermann, J M, de Vries, T I, Ecury-Goossen, G M, Lo-A-Njoe, S M, Manshande, M E, Faries, S, Veenhuis, H D, Philippi, P, Falix, F A, Rosina-Angelista, I, Ponson-Wever, M, Rafael-Croes, L, Thorsen, P, Arends, E, de Vroomen, M, Nagelkerke, S Q, Tilanus, M, van der Veken, L T, Huijsdens-van Amsterdam, K, van der Kevie-Kersemaekers, A-M, Alders, M, Mannens, M M A M & van Haelst, M M 2022, ' Genetic care in geographically isolated small island communities : 8 years of experience in the Dutch Caribbean ', American Journal of Medical Genetics Part A, vol. 188, no. 6, pp. 1777-1791 . https://doi.org/10.1002/ajmg.a.62708
American journal of medical genetics. Part A, 188(6), 1777-1791. Wiley-Liss Inc.
Verberne, E A, Westermann, J M, de Vries, T I, Ecury-Goossen, G M, Lo-A-Njoe, S M, Manshande, M E, Faries, S, Veenhuis, H D, Philippi, P, Falix, F A, Rosina-Angelista, I, Ponson-Wever, M, Rafael-Croes, L, Thorsen, P, Arends, E, de Vroomen, M, Nagelkerke, S Q, Tilanus, M, van der Veken, L T, Huijsdens-van Amsterdam, K, van der Kevie-Kersemaekers, A-M, Alders, M, Mannens, M M A M & van Haelst, M M 2022, ' Genetic care in geographically isolated small island communities : 8 years of experience in the Dutch Caribbean ', American Journal of Medical Genetics Part A, vol. 188, no. 6, pp. 1777-1791 . https://doi.org/10.1002/ajmg.a.62708
Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagn
Autor:
Maria Ponson-Wever, Lidewij Henneman, Meindert E. Manshande, Ginette M. Ecury-Goossen, Mieke M. van Haelst, Marcel M.A.M. Mannens, Eline A. Verberne, Martijn Tilanus, Maartje de Vroomen
Publikováno v:
Verberne, E A, Ecury-Goossen, G M, Manshande, M E, Ponson-Wever, M, de Vroomen, M, Tilanus, M, Mannens, M M A M, Henneman, L & van Haelst, M M 2021, ' Clinical and community genetics services in the Dutch Caribbean ', Journal of Community Genetics, vol. 12, no. 3, pp. 497-501 . https://doi.org/10.1007/s12687-021-00515-6, https://doi.org/10.1007/s12687-021-00515-6
Journal of Community Genetics
Journal of Community Genetics, 12(3), 497-501. Springer Verlag
Journal of community genetics, 12(3), 497-501. Springer Verlag
Journal of Community Genetics
Journal of Community Genetics, 12(3), 497-501. Springer Verlag
Journal of community genetics, 12(3), 497-501. Springer Verlag
The Caribbean part of the Kingdom of the Netherlands consists of six islands: Aruba, Bonaire, Curaçao, St. Maarten, St. Eustatius, and Saba. Because of their small size and relative remoteness, they face several economic and healthcare challenges, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdead96b8491eb891a37246f61bb5782
https://research.vumc.nl/en/publications/48ed84af-2ba5-4a0d-8d29-e536484feaa0
https://research.vumc.nl/en/publications/48ed84af-2ba5-4a0d-8d29-e536484feaa0
Autor:
Ingrid M.B.H. van de Laar, Eline A. Verberne, Kim M G Truijen, Marlon E F Wilsterman, Mieke M. van Haelst, Jung-Hyun Kim, Margje Sinnema, Erica H. Gerkes, Kathleen M Collins, Zahide Alaçam, Kristin Lindstrom, Alexander J. M. Dingemans, Hermine E. Veenstra-Knol, Mathilde Nizon, Lisenka E.L.M. Vissers, Anneke T. Vulto-van Silfhout, Astrid S Plomp, Laurence Faivre, Bert B.A. de Vries, Edyta Heropolitańska-Pliszka, Rani Sachdev, James Pauling, Eun-Young Erin Ahn, Jon Skranes, Caroline Racine
Publikováno v:
Eur J Hum Genet
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics, 30(3), 271-281. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, ' Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics
European Journal of Human Genetics, 30, 271-281
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics, 30(3), 271-281. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, Kim, J-H, Alaçam, Z, Faivre, L, Collins, K M, Gerkes, E H, van Haelst, M, van de Laar, I M B H, Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, ' Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics
European Journal of Human Genetics, 30, 271-281
Contains fulltext : 248367.pdf (Publisher’s version ) (Closed access) Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its encoded pr