Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Janneke H M Schuurs-Hoeijmakers"'
Autor:
Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers
Publikováno v:
PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 1
Externí odkaz:
https://doaj.org/article/bb2cc49db65247d0babb9ce38d7ed980
Autor:
Linda A. J. Hendricks, Katja C. J. Verbeek, Janneke H. M. Schuurs-Hoeijmakers, Arjen R. Mensenkamp, Hilde Brems, Robin de Putter, Violetta C. Anastasiadou, Marie-Charlotte Villy, Arne Jahn, Verena Steinke-Lange, Margherita Baldassarri, Arvids Irmejs, Mirjam M. de Jong, Thera P. Links, Edward M. Leter, Daniëlle G. M. Bosch, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Kjersti Jørgensen, Lovise Mæhle, Ana Blatnik, Joan Brunet, Esther Darder, Emma Tham, Nicoline Hoogerbrugge, Janet R. Vos
Publikováno v:
Cancers, Vol 16, Iss 5, p 953 (2024)
Females with PTEN Hamartoma Tumor Syndrome (PHTS) have breast cancer risks up to 76%. This study assessed associations between breast cancer and lifestyle in European female adult PHTS patients. Data were collected via patient questionnaires (July 20
Externí odkaz:
https://doaj.org/article/fec7f542d3f149ddb920a8ada25386b8
Autor:
Peter M. van Hasselt, Carlo Marcelis, Herman E Talsma, Marc R. Lilien, Hanneke A. Haijes, Willemijn F. E. Kuper, Bram C F Veldman, Janneke H M Schuurs-Hoeijmakers, Milan Phan, Ymkje M. Hettinga
Publikováno v:
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part A, 185, 7, pp. 2204-2210
American Journal of Medical Genetics. Part A, 185, 2204-2210
American Journal of Medical Genetics. Part A, 185, 7, pp. 2204-2210
American Journal of Medical Genetics. Part A, 185, 2204-2210
Contains fulltext : 237970.pdf (Publisher’s version ) (Open Access) The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 i
Autor:
Nghi Dang, Jonas Denecke, Jaclyn B. Murry, Laurence A. Bindoff, Tatjana Bierhals, Caroline Nava, Jordan H. Whitlock, Anne Slavotinek, Julian A. Martinez-Agosto, Frédéric Bilan, Ana Beleza-Meireles, Caroline Estes, Janneke H M Schuurs-Hoeijmakers, Adam Jackson, Christiane Zweier, David T. Miller, Kirsty McWalter, Gunnar Houge, Boris Keren, Jun Wang, Kinga K. Tomczak, Hans-Jürgen Kreienkamp, Siren Berland, Fabiola Quintero-Rivera, Charlotte A. Haaxma, Gwenaël Le Guyader, Laura Kellogg, Siddharth Banka, John M. Parant, Nan Cher Yeo, Jirat Chenbhanich, Davor Lessel, Cornelia Kraus, Yolanda Holler-Managan, Kelly Q. Minks, Julie Fleischer, Sarah F. Smithson, Geir J. Braathen, Ilaria Mannucci, Stanley F. Nelson, Trine Prescott, Luis F. Escobar, Simone F. Reiter, Kristian Tveten, David Bearden, Utz Fischer, Christian Kubisch, Perry B. Shieh, Jeff Abramson, Jane Juusola, Maja Hempel, Ulf W. Ljungblad, Daniel Groepper, Hannes Huber, Billur Moghaddam, Leslie Manace Brenman, Thorsten Althoff, Matthew Might, Alexander P.A. Stegmann, Cathy Kiraly-Borri, Øyvind L. Busk, Gareth Baynam, Hanitra Randrianaivo, Paul J. Benke, Farrah Rajabi
Publikováno v:
Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook
Autor:
Daniel L. Polla, Sirous Zeinali, Nina A. Demina, Majid Yavarian, Stylianos E. Antonarakis, Sandra von Hardenberg, Saima Riazuddin, Filomena Pirozzi, Sven Hethey, Zubair M. Ahmed, Leah Fleming, Jacek Pilch, John Condie, Vasilina S. Sergeeva, Mohammad Ali Faghihi, Nael Nadif Kasri, Shima Bahramjahan, Neelam Fatima, Periklis Makrythanasis, Muhammad Ansar, Alena L. Chukhrova, Anke K. Bergmann, Hanka Venselaar, Mohsin Shahzad, Arjan P.M. de Brouwer, Mohammad Ali Farazi Fard, Hans van Bokhoven, Ghayda M. Mirzaa, Mohammad-Sadegh Fallah, Hennie T. Brüggenwirth, Olga Levchenko, Laura Donker Kaat, Afsaneh Taghipour Sheshdeh, Pooneh Nikuei, Amira Masri, Mureed Hussain, Agnieszka Pollak, Federico Santoni, Katrin Linda, Alexander Lavrov, Fareeha Fatima, Ebrahim Eftekhar, Hanan Hamamy, Gaia Ruggeri, Sheikh Riazuddin, Zahra Tabatabaei, Janneke H M Schuurs-Hoeijmakers, Rafał Płoski, Parham Habibzadeh, Mohammad Silawi
Publikováno v:
Genetics in Medicine, 23(7), 1246-1254. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med
Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder. Methods: A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Qua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3f5a9e869e71a7190c0baaa8bc7696
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76
Autor:
Marcel van Deuren, Marien I. de Jonge, Janneke H M Schuurs-Hoeijmakers, Stefanie S. V. Henriet, Michiel van der Flier, Koen J. van Aerde, Renate G. van der Molen, Corrie M de Kat Angelino, Jeroen D. Langereis, Irma Joosten, Annet Simons
Publikováno v:
Clinical & Translational Immunology
Clinical & Translational Immunology, 10
Clinical & Translational Immunology, Vol 10, Iss 4, Pp n/a-n/a (2021)
Clinical & Translational Immunology, 10, 4
Clinical & Translational Immunology, 10
Clinical & Translational Immunology, Vol 10, Iss 4, Pp n/a-n/a (2021)
Clinical & Translational Immunology, 10, 4
Objectives Complete deficiency of alternative pathway (AP) complement factors, explained by homozygous mutations, is a well‐known risk factor for invasive bacterial infections; however, this is less obvious for heterozygous mutations. We describe t
Autor:
Xavier Corbella, Sabater-Riera J, van der Made Ci, van der Hoven B, Janneke H M Schuurs-Hoeijmakers, Arnau Antolí, Xavier Solanich, Conxi Lázaro, Vargas-Parra G, Capellá G, Antoni Riera-Mestre, del Valle J, van de Veerdonk Fl, Manel Esteller, Alexander Hoischen, Gemma Rocamora-Blanch, Setién F, Annet Simons
Advanced age, male sex and chronic comorbidities are associated with severe COVID-19. However, these general risk factors cannot explain why critical illness occurs in young and apparently healthy individuals. In the past months, several publications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f24bdd0a4a7eb82f9914ae3413772e46
https://doi.org/10.1101/2021.03.14.21252289
https://doi.org/10.1101/2021.03.14.21252289
Autor:
Meggie M.C.M. Drissen, Janneke H M Schuurs-Hoeijmakers, Jolanda H. Schieving, Janet R. Vos, Nicoline Hoogerbrugge
Publikováno v:
European Journal of Medical Genetics, 64
European Journal of Medical Genetics, 64, 12
European Journal of Medical Genetics, 64, 12
Patients with PTEN Hamartoma Tumour Syndrome (PHTS) are at increased risk of developing cancer. Many adult PHTS patients are not recognized as such and do not receive the cancer surveillance they need. Our aim was to define phenotypic characteristics
Publikováno v:
Clinical Genetics, 99, 2, pp. 219-225
Clinical Genetics
Clinical Genetics, 99, 219-225
Clinical Genetics
Clinical Genetics, 99, 219-225
Patients with PTEN hamartoma tumor syndrome (PHTS, comprising Cowden, Bannayan‐Riley‐Ruvalcaba, and Proteus‐like syndromes) are at increased risk of developing cancer due to pathogenic PTEN germline variants. This review summarizes age‐, sex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bda305d2dfe737877ca4ad49769a4fc5
https://hdl.handle.net/2066/231672
https://hdl.handle.net/2066/231672
Autor:
Fernando Kok, José Luiz Pedroso, Janneke H M Schuurs-Hoeijmakers, Orlando Graziani Povoas Barsottini, Marcondes C. França, João Bosco Oliveira, Ivana Rocha Raslan, Rolph Pfundt
Publikováno v:
Parkinsonism & Related Disorders, 92, pp. 33-35
Parkinsonism & Related Disorders, 92, 33-35
Parkinsonism & Related Disorders, 92, 33-35
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1531a4bf4faa4670ebb918d123067fe3
https://repository.ubn.ru.nl/handle/2066/244073
https://repository.ubn.ru.nl/handle/2066/244073