Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Augusta M A, Lachmeijer"'
Autor:
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham
Publikováno v:
Human Mutation, 43(12), 2130-2140. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWI
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3d626b36d5a4ec4586b987251a1250
https://hdl.handle.net/1887/3563778
https://hdl.handle.net/1887/3563778
Autor:
Christopher Cunniff, Laurence Faivre, Simon E. Fisher, Hester Y. Kroes, Catherine Au, Rolph Pfundt, Jacqueline Leonard, Ahmad N. Abou Tayoun, Kosuke Izumi, Katherine Bergstrom, Deepali N. Shinde, Pelagia Deriziotis, Saskia M. Maas, Marcello Niceta, Antonio Vitobello, Sha Tang, Hanka Venselaar, Christophe Philippe, Christian Gilissen, Tjitske Kleefstra, Marco Tartaglia, Helen V. Firth, Nobuhiko Okamoto, Laurens Wiel, Lot Snijders Blok, Naomichi Matsumoto, Maria Lisa Dentici, Han G. Brunner, Samuel W. Baker, Susan Tomkins, Augusta M. A. Lachmeijer, Simon Bodek, Alejandro D. Iglesias, Monica H. Wojcik, Katrin Õunap, Noriko Miyake, Koen L.I. van Gassen, Zöe Powis
Publikováno v:
The American Journal of Human Genetics
Web of Science
American Journal of Human Genetics, 105(2), 403. Cell Press
American journal of human genetics, 105(2), 403-412. Cell Press
American Journal of Human Genetics, 105, 2, pp. 403-412
American Journal of Human Genetics, 105, 403-412
American Journal of Human Genetics, 105(2), 403-412. Cell Press
Web of Science
American Journal of Human Genetics, 105(2), 403. Cell Press
American journal of human genetics, 105(2), 403-412. Cell Press
American Journal of Human Genetics, 105, 2, pp. 403-412
American Journal of Human Genetics, 105, 403-412
American Journal of Human Genetics, 105(2), 403-412. Cell Press
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed6304c1ad5256438699cdf65a961e4
https://cris.maastrichtuniversity.nl/en/publications/b870be46-a808-4eeb-9710-319fc000294b
https://cris.maastrichtuniversity.nl/en/publications/b870be46-a808-4eeb-9710-319fc000294b
Autor:
Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
Publikováno v:
Am J Hum Genet
The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ab5c5b8f69c8ad3cfea21fe152f5f9
https://europepmc.org/articles/PMC8059373/
https://europepmc.org/articles/PMC8059373/
Autor:
Lilian Bomme Ousager, Anne Gregor, Bruno Dallapiccola, Sébastien Moutton, Marwan Shinawi, Heather C Mefford, Eduardo Calpena, Satoko Kumada, Joseph D. Symonds, Candace T. Myers, Antonio Novelli, Melissa Lees, Bertrand Isidor, Tobias B. Haack, Augusta M. A. Lachmeijer, Francisco Martínez, Anita Rauch, André Reis, Carmen Orellana, Pascal Joset, Rebecca Buchert, Laurence Faivre, Naomichi Matsumoto, Frances Elmslie, Ajoy Sarkar, Katharina Steindl, Mónica Roselló, Ingrid E. Scheffer, Lynette G. Sadleir, Victoria Harrison, Agatino Battaglia, Alex Henderson, Sally Ann Lynch, Felix Distelmaier, Ange Line Bruel, Paranchai Boonsawat, Noriko Miyake, Heinrich Sticht, David Hunt, Carey McDougall, Addie I. Nesbitt, Silvia Azzarello-Burri, Avni Santani, Reza Asadollahi, Benjamin Cogné, Elaine H. Zackai, Ken Saida, Christiane Zweier
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (2), pp.305-316. ⟨10.1016/j.ajhg.2018.07.003⟩
American Journal of Human Genetics, 103(2), 305. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
University of Washington Center for Mendelian Genomics 2018, ' De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder ', American Journal of Human Genetics, vol. 103, no. 2, pp. 305-316 . https://doi.org/10.1016/j.ajhg.2018.07.003
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (2), pp.305-316. ⟨10.1016/j.ajhg.2018.07.003⟩
American Journal of Human Genetics, 103(2), 305. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
University of Washington Center for Mendelian Genomics 2018, ' De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder ', American Journal of Human Genetics, vol. 103, no. 2, pp. 305-316 . https://doi.org/10.1016/j.ajhg.2018.07.003
International audience; Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous ent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc38abe5dcae30aec57484aaa88491f
https://europepmc.org/articles/PMC6080769/
https://europepmc.org/articles/PMC6080769/
Autor:
Vyne van der Schoot, Anna Lehman, Augusta M. A. Lachmeijer, Tuula Rinne, Magalie S. Leduc, Johanna M. van Hagen, Servi J. C. Stevens, Sylvia Stockler-Ipsiroglu, Seema R. Lalani, Han G. Brunner, Causes Study, Marjan M. Weiss
Publikováno v:
Human Mutation, 39(7), 1014-1023. Wiley-Liss Inc.
Human Mutation, 39, 1014-1023
CAUSES Study 2018, ' De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability ', Human Mutation, vol. 39, no. 7, pp. 1014-1023 . https://doi.org/10.1002/humu.23541
Human Mutation, 39(7), 1014-1023. Wiley
Human Mutation, 39, 7, pp. 1014-1023
Human Mutation, 39(7), 1014. Wiley-Liss Inc.
Human Mutation, 39, 1014-1023
CAUSES Study 2018, ' De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability ', Human Mutation, vol. 39, no. 7, pp. 1014-1023 . https://doi.org/10.1002/humu.23541
Human Mutation, 39(7), 1014-1023. Wiley
Human Mutation, 39, 7, pp. 1014-1023
Human Mutation, 39(7), 1014. Wiley-Liss Inc.
The role of disturbed chromatin remodeling in the pathogenesis of intellectual disability (ID) is well established and illustrated by de novo mutations found in a plethora of genes encoding for proteins of the epigenetic regulatory machinery. We desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa2ac9f8a09f276cbd22cab8ae09093
https://research.vumc.nl/en/publications/19a3b2f1-c712-47a1-8098-59c11c7bda91
https://research.vumc.nl/en/publications/19a3b2f1-c712-47a1-8098-59c11c7bda91
Autor:
Corstiaan C. Breugem, Augusta M. A. Lachmeijer, Daan P. F. van Nunen, Jan Maarten Cobben, Emma C. Paes, Chantal M.A.M. van der Horst, Saskia M. Maas, Johanna M. van Hagen, Hanneke Basart, J. Peter W. Don Griot, Marie-Jose H. van den Boogaard, Raoul C.M. Hennekam, Klaske D. Lichtenbelt
Publikováno v:
Basart, H, Paes, E C, Maas, S M, van den Boogaard, M J H, van Hagen, J M, Breugem, C C, Cobben, J M, don Griot, J P W, Lachmeijer, A M A, Lichtenbelt, K D, van Nunen, D P F, van der Horst, CM & Hennekam, R C 2015, ' Etiology and Pathogenesis of Robin Sequence in a Large Dutch Cohort ', American Journal of Medical Genetics Part A, vol. 167, no. 9, pp. 1983-1992 . https://doi.org/10.1002/ajmg.a.37154
American journal of medical genetics. Part A, 167(9), 1983-1992. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 167(9), 1983-1992. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167(9), 1983. Wiley-Liss Inc.
American journal of medical genetics. Part A, 167(9), 1983-1992. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 167(9), 1983-1992. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167(9), 1983. Wiley-Liss Inc.
Robin sequence (RS) can be defined as the combination of micrognathia and upper airway obstruction/glossoptosis causing neonatal respiratory problems, with or without a cleft palate and either isolated or non-isolated. Pathogenesis varies widely. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0182566b03d974174487fa5e32ea48d4
https://doi.org/10.1002/ajmg.a.37154
https://doi.org/10.1002/ajmg.a.37154
Autor:
Wybo Dondorp, Anne de Boer, Lidewij Henneman, Eva Pajkrt, Eline J. H. van Hugte, Rachèl V. van Schendel, Augusta M. A. Lachmeijer, Danielle R.M. Timmermans
Publikováno v:
Prenatal Diagnosis. 35:598-604
Objective The aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions. Methods An online questionnaire available on the Dutch pregnancy f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae73650679ef10fa27151f1ea16821ce
https://doi.org/10.1002/pd.4579
https://doi.org/10.1002/pd.4579
Autor:
Joyce Mulders, Marie van Dijk, Daoud Sie, Hari K. Thulluru, Ankie Poutsma, Gunilla Kleiverda, Omar J. Michel, Cees B.M. Oudejans, Augusta M. A. Lachmeijer, Sandra Windhorst
Publikováno v:
van Dijk, M, Thulluru, H K, Mulders, J, Michel, O J, Poutsma, A, Windhorst, S, Kleiverda, G, Sie, D L S, Lachmeijer, A M A & Oudejans, C B M 2012, ' HELLP babies link a novel lincRNA to the trophoblast cell cycle ', Journal of Clinical Investigation, vol. 122, no. 11, pp. 4003-4011 . https://doi.org/10.1172/JCI65171
Journal of Clinical Investigation, 122(11), 4003-4011. The American Society for Clinical Investigation
Journal of Clinical Investigation, 122(11), 4003-4011. The American Society for Clinical Investigation
The HELLP syndrome is a pregnancy-associated disease inducing hemolysis, elevated liver enzymes, and low platelets in the mother. Although the HELLP symptoms occur in the third trimester in the mother, the origin of the disease can be found in the fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7230dd0e8c5191a4843410f9c8fe51ba
https://doi.org/10.1172/jci65171
https://doi.org/10.1172/jci65171
Autor:
Constance T.R.M. Schrander-Stumpel, Christine E. M. de Die-Smulders, Alice S. Brooks, Johanna C. Herkert, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Augusta M. A. Lachmeijer, H.J.M. Smeets, Merel C. van Maarle, Arie van Haeringen, Klaske D. Lichtenbelt, Yvonne Arens, Demis Tserpelis, Gita M. B. Tan-Sindhunata, Eric Smeets, J. Herbergs, Yolande van Bever, Matteus K. M. Spee, Margriet Collée, Grazia M.S. Mancini, Marleen Simon, Aimee D C Paulussen, John J.M. Engelen, Alexander P.A. Stegmann, Anthonie J. van Essen, Mei L. Kwee, Anneke Maat-Kievit
Publikováno v:
European Journal of Human Genetics, 18(9), 999-1005. Nature Publishing Group
Paulussen, A D C, Schrander-Stumpel, C T, Tserpelis, D C J, Spee, M K M, Stegmann, A P A, Mancini, G M, Brooks, A S, Collee, M, Maat-Kievit, A, Simon, M E H, van Bever, Y, Stolte-Dijkstra, I, Kerstjens-Frederikse, W S, Herkert, J C, van Essen, A J, Lichtenbelt, K D, van Haeringen, A, Kwee, M L, Lachmeijer, A M A, Sindhunata, M B, van Maarle, M C, Arens, Y H J M, Smeets, E E J G, de Die-Smulders, C E, Engelen, J J M, Smeets, H J & Herbergs, J 2010, ' The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes ', European Journal of Human Genetics, vol. 18, no. 9, pp. 999-1005 . https://doi.org/10.1038/ejhg.2010.70
European Journal of Human Genetics
European journal of human genetics, 18(9), 999-1005. Nature Publishing Group
Paulussen, A D C, Schrander-Stumpel, C T, Tserpelis, D C J, Spee, M K M, Stegmann, A P A, Mancini, G M, Brooks, A S, Collee, M, Maat-Kievit, A, Simon, M E H, van Bever, Y, Stolte-Dijkstra, I, Kerstjens-Frederikse, W S, Herkert, J C, van Essen, A J, Lichtenbelt, K D, van Haeringen, A, Kwee, M L, Lachmeijer, A M A, Sindhunata, M B, van Maarle, M C, Arens, Y H J M, Smeets, E E J G, de Die-Smulders, C E, Engelen, J J M, Smeets, H J & Herbergs, J 2010, ' The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes ', European Journal of Human Genetics, vol. 18, no. 9, pp. 999-1005 . https://doi.org/10.1038/ejhg.2010.70
European Journal of Human Genetics
European journal of human genetics, 18(9), 999-1005. Nature Publishing Group
Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The prevalence is 1:250 during early embryogenesis, the live-born prevalence is 1:16 000. The etiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625b3b79b5c005e59631b588636a6a73
https://pure.eur.nl/en/publications/84293c2a-f8cb-41b7-8555-d591d1569cd5
https://pure.eur.nl/en/publications/84293c2a-f8cb-41b7-8555-d591d1569cd5
Autor:
Rachèl V, van Schendel, Wybo J, Dondorp, Danielle R M, Timmermans, Eline J H, van Hugte, Anne, de Boer, Eva, Pajkrt, Augusta M A, Lachmeijer, Lidewij, Henneman
Publikováno v:
Prenatal diagnosis. 35(6)
The aim of the study is to study pregnant women's views on noninvasive prenatal testing (NIPT) for Down syndrome and the potential to test for a broader range of conditions.An online questionnaire available on the Dutch pregnancy fair website was com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ae5d7e979e0392031b74019d9c8433ec
https://pubmed.ncbi.nlm.nih.gov/25693726
https://pubmed.ncbi.nlm.nih.gov/25693726