Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Rogier Kersseboom"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Autor:
Anna G. W. Rosenberg, Minke R. A. Pater, Karlijn Pellikaan, Kirsten Davidse, Anja A. Kattentidt-Mouravieva, Rogier Kersseboom, Anja G. Bos-Roubos, Agnies van Eeghen, José M. C. Veen, Jiske J. van der Meulen, Nina van Aalst-van Wieringen, Franciska M. E. Hoekstra, Aart J. van der Lely, Laura C. G. de Graaff
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 22, p 5457 (2021)
Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of
Externí odkaz:
https://doaj.org/article/aa2455e26c374c48bbe666299d23fced
Autor:
Karlijn Pellikaan, Anna G. W. Rosenberg, Kirsten Davidse, Anja A. Kattentidt-Mouravieva, Rogier Kersseboom, Anja G. Bos-Roubos, Lionne N. Grootjen, Layla Damen, Sjoerd A. A. van den Berg, Aart J. van der Lely, Anita C. S. Hokken-Koelega, Laura C. G. de Graaff
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 15, p 3250 (2021)
Prader-Willi syndrome (PWS) is a complex hypothalamic disorder. Features of PWS include hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. The combination of growth hormone treatment and multidisciplinary care (GHMDc
Externí odkaz:
https://doaj.org/article/ed2e83ff824546ee9bd8c6e262fb6fc3
Autor:
Kirsten Davidse, Agnies M. van Eeghen, Laura C. G. de Graaff, Aart Jan van der Lely, Rogier Kersseboom, Minke R. A. Pater, Nina van Aalst-van Wieringen, Franciska M E Hoekstra, Jiske J. van der Meulen, Anja A Kattentidt-Mouravieva, Anja G Bos-Roubos, Karlijn Pellikaan, José M. C. Veen, Anna G W Rosenberg
Publikováno v:
Rosenberg, A G W, Pater, M R A, Pellikaan, K, Davidse, K, Kattentidt-Mouravieva, A A, Kersseboom, R, Bos-Roubos, A G, van Eeghen, A, Veen, J M C, van der Meulen, J J, van Aalst-van Wieringen, N, Hoekstra, F M E, van der Lely, A J & de Graaff, L C G 2021, ' What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications : Five years of ‘internal medicine for rare genetic syndromes’ ', Clinical Chemistry, vol. 10, no. 22, 5457 . https://doi.org/10.3390/jcm10225457
Journal of Clinical Medicine; Volume 10; Issue 22; Pages: 5457
Journal of Clinical Medicine, Vol 10, Iss 5457, p 5457 (2021)
Clinical Chemistry, 10(22):5457
Journal of Clinical Medicine, 10(22):5457. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 10; Issue 22; Pages: 5457
Journal of Clinical Medicine, Vol 10, Iss 5457, p 5457 (2021)
Clinical Chemistry, 10(22):5457
Journal of Clinical Medicine, 10(22):5457. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7387bce94b724dcb6f730132089eacce
https://research.vumc.nl/en/publications/6076af8d-26d4-4b57-a0a0-3631b08e1633
https://research.vumc.nl/en/publications/6076af8d-26d4-4b57-a0a0-3631b08e1633
Autor:
Sjoerd A A van den Berg, Aart Jan van der Lely, Layla Damen, Anita C. S. Hokken-Koelega, Laura C. G. de Graaff, Lionne N Grootjen, Anna G W Rosenberg, Karlijn Pellikaan, Anja A Kattentidt-Mouravieva, Anja G Bos-Roubos, Kirsten Davidse, Rogier Kersseboom
Publikováno v:
Journal of Clinical Medicine
Journal of Clinical Medicine, 10(15):3250. Multidisciplinary Digital Publishing Institute (MDPI)
Volume 10
Issue 15
Journal of Clinical Medicine, Vol 10, Iss 3250, p 3250 (2021)
Journal of Clinical Medicine, 10(15):3250. Multidisciplinary Digital Publishing Institute (MDPI)
Volume 10
Issue 15
Journal of Clinical Medicine, Vol 10, Iss 3250, p 3250 (2021)
Prader-Willi syndrome (PWS) is a complex hypothalamic disorder. Features of PWS include hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. The combination of growth hormone treatment and multidisciplinary care (GHMDc
Autor:
Catherine Vincent-Delorme, Claudia A. L. Ruivenkamp, Marjan De Rademaeker, Francisco Martínez, Tracy Dudding-Byth, Marianne McGuire, Bert B.A. de Vries, Mitsuhiro Kato, Levinus A. Bok, Hülya Kayserili, Jeff M. Milunsky, Suzanne C E H Sallevelt, Alwin F. J. Brouwer, Jill Clayton-Smith, Emilia K. Bijlsma, Miranda Splitt, Patricia G. Wheeler, Philippe M. Campeau, Fatma Mujgan Sonmez, Kylin Lammers, Stefanie Beck-Wödl, Caroline Rooryck, Louise C. Wilson, Evan E. Eichler, Sarina G. Kant, Johanna C. Herkert, Karin R. Heitink, Eyyup Uctepe, Pleuntje J. van der Sluijs, Miho Adachi-Fukuda, Lone W. Laulund, Sandra Jansen, Nicolette S. den Hollander, Damien Lederer, Tomoki Kosho, Constance T. R. M. Stumpel, Saskia M. Maas, Esra Kılıç, Erica H. Gerkes, Duco Steenbeek, Melissa Lees, Kay Metcalfe, Karin Dahan, Ineke van der Burgt, Isabelle Maystadt, Christian Netzer, Ute Grasshoff, Carmen Orellana, Mahmut Şamil Sağıroğlu, Gijs W. E. Santen, Pelin Ozlem Simsek-Kiper, Mónica Roselló, Gabriela Soares, Alexander P.A. Stegmann, Stephen P. Robertson, Adila Al-Kindy, Maian Roifman, Saori Tanabe, Vera Riehmer, Brain H Y Chung, Arie van Haeringen, G. Eda Utine, Yasemin Alanay, Rogier Kersseboom, John B. Moeschler, Barbara Oehl-Jaschkowitz, Katherine Berry, Denise Horn, Alice Gardham, Shane McKee, Anwar Baban, Amparo Sanchis Calvo, Golder N. Wilson, Krystyna H. Chrzanowska, G. M. S. Mancini, Ellen R. Elias, Małgorzata Krajewska-Walasek, Rolph Pfundt, Sarju G. Mehta, Fabienne G. Ropers, Seiji Mizuno, David Hunt, Caroline Pottinger, Dagmar Wieczorek, Yoyo W. Y. Chu, Laurent Pasquier, Bernd Wollnik, Nobuhiko Okamoto, Sunita Venkateswaran, Vanesa López-González, Natalie Canham, Blanca Gener, Anne Destree, Christina Fagerberg, Rachel K. Earl, Sharon N M Olminkhof, Nursel Elcioglu, Charlotte W. Ockeloen, Carlo Marcelis, Samantha A. Vergano, Hermine E. Veenstra-Knol, Anneke T. Vulto-van Silfhout, Allan Bayat, Catheline Vilain, Lucia Solaeche
Publikováno v:
Genetics in Medicine, 21(6), 1295-1307. Nature Publishing Group
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Genetics in Medicine
Genetics in Medicine, 21, 6, pp. 1295-1307
Genetics in Medicine, 21(6), 1295-1307. Lippincott Williams & Wilkins
Genetics in medicine, 21(6), 1295-1307. Lippincott Williams and Wilkins
Genetics in Medicine, 21, 1295-1307
Genetics in Medicine, 21(6), 1295-1307. NATURE PUBLISHING GROUP
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Clayton-Smith, J & et al 2018, ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0330-z
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Genetics in Medicine
Genetics in Medicine, 21, 6, pp. 1295-1307
Genetics in Medicine, 21(6), 1295-1307. Lippincott Williams & Wilkins
Genetics in medicine, 21(6), 1295-1307. Lippincott Williams and Wilkins
Genetics in Medicine, 21, 1295-1307
Genetics in Medicine, 21(6), 1295-1307. NATURE PUBLISHING GROUP
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Clayton-Smith, J & et al 2018, ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0330-z
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARI
Autor:
Franciska M E Hoekstra, Kirsten Davidse, José M. C. Veen, Anja A Kattentidt-Mouravieva, Anja G Bos-Roubos, Laura C. G. de Graaff, Jiske J. van der Meulen, Agnies M. van Eeghen, Rogier Kersseboom, Minke R. A. Pater, Aart Jan van der Lely, Nina van Aalst, Anna G W Rosenberg
Publikováno v:
Journal of the Endocrine Society
Introduction: Patients with complex rare genetic syndromes (CRGS) have, by definition, combined medical problems affecting multiple organ systems. Intellectual disability (ID) is often part of the syndrome. During childhood, most patients with CRGS r
Autor:
Aart Jan van der Lely, Anja A Kattentidt-Mouravieva, Laura C. G. de Graaff, Sjoerd A A van den Berg, Rogier Kersseboom, Anna G W Rosenberg, Karlijn Pellikaan, Nina van Aalst-van Wieringen, Anja G Bos-Roubos, Franciska M E Hoekstra, José M C Veen-Roelofs
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 105(12):dgaa621. Endocrine Society
The Journal of Clinical Endocrinology and Metabolism
The Journal of Clinical Endocrinology and Metabolism
Context Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. Annual mortality of patients with PWS is high (3%). In half of the patients, the ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf02826ce8ab556392a003b6911f8eb
https://pure.eur.nl/en/publications/9e4517eb-5c0d-4cc7-b9e4-08780a91e6ab
https://pure.eur.nl/en/publications/9e4517eb-5c0d-4cc7-b9e4-08780a91e6ab
Autor:
Dicky J J Halley, Rolien H C Raatgeep, Sharon Veenbergen, Marieke A. van Leeuwen, Y. Simons-Oosterhuis, Dicky J. Lindenbergh-Kortleve, Janneke N. Samsom, Lilian F. de Ruiter, Johanna C. Escher, Gertjan J J Driessen, Lissy de Ridder, Rogier Kersseboom, Katharina Biermann
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition, 65(1), E5-E15. Lippincott Williams & Wilkins
textabstractOBJECTIVE:: Monogenic defects in the interleukin-10 (IL-10) pathway are extremely rare and cause infantile-onset inflammatory bowel disease (IBD)-like pathology. Understanding how immune responses are dysregulated in monogenic IBD-like di
Autor:
Lucia Daxinger, Peter E. Thijssen, L. Spossito, Francesco Licciardi, S.M. van der Maarel, A Ikinciogullari, Corry M.R. Weemaes, Matías Oleastro, E. Bailardo, Ercan Nain, M.M. van Ostaijen-ten Dam, Rogier Kersseboom, Figen Dogu, M. van den Boogaard, M.J.D. van Tol, Virgil A. S. H. Dalm, Safa Baris, F. A. T. de Vries, Gertjan J. Driessen, Caner Aytekin, Ayca Kiykim
Publikováno v:
Clinical Genetics. 92:380-387
Background Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immun