Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Hennie T. Brüggenwirth"'
Autor:
A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop
Publikováno v:
International Journal of Endocrinology, Vol 2012 (2012)
Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian patients in accordance with the new consensus DSD algorithm. Diagnostic ev
Externí odkaz:
https://doaj.org/article/79bd77faaed645a2b25e83e41cac5474
Autor:
Anna G. W. Rosenberg, Charlotte M. Wellink, Juan M. Tellez Garcia, Karlijn Pellikaan, Denise H. Van Abswoude, Kirsten Davidse, Laura J. C. M. Van Zutven, Hennie T. Brüggenwirth, James L. Resnick, Aart J. Van der Lely, Laura C. G. De Graaff
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 14, p 4033 (2022)
Prader–Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy
Externí odkaz:
https://doaj.org/article/a6450b93e6e8469a8c9f7030a0b4ac94
Autor:
Judith M. A. Verhagen, Joyce Burger, Jos A. Bekkers, Alexander T. den Dekker, Jan H. von der Thüsen, Marina Zajec, Hennie T. Brüggenwirth, Marianne L. T. van der Sterre, Myrthe van den Born, Theo M. Luider, Wilfred F. J. van IJcken, Marja W. Wessels, Jeroen Essers, Jolien W. Roos-Hesselink, Ingrid van der Pluijm, Ingrid M. B. H. van de Laar, Erwin Brosens
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1, p 438 (2021)
Thoracic aortic aneurysm is a potentially life-threatening disease with a strong genetic contribution. Despite identification of multiple genes involved in aneurysm formation, little is known about the specific underlying mechanisms that drive the pa
Externí odkaz:
https://doaj.org/article/035b2396d4e0497b8e9e58bcbcfed623
Autor:
Karlijn Pellikaan, Geeske M. van Woerden, Lotte Kleinendorst, Anna G. W. Rosenberg, Bernhard Horsthemke, Christian Grosser, Laura J. C. M. van Zutven, Elisabeth F. C. van Rossum, Aart J. van der Lely, James L. Resnick, Hennie T. Brüggenwirth, Mieke M. van Haelst, Laura C. G. de Graaff
Publikováno v:
Genes, Vol 12, Iss 6, p 875 (2021)
Prader–Willi syndrome (PWS) is a rare genetic condition characterized by hypotonia, intellectual disability, and hypothalamic dysfunction, causing pituitary hormone deficiencies and hyperphagia, ultimately leading to obesity. PWS is most often caus
Externí odkaz:
https://doaj.org/article/154edb68a26a494da0d1f5673f09be94
Autor:
Sabine E. Hannema, Katja P. Wolffenbuttel, Yolande van Bever, Hennie T. Brüggenwirth, Sjoerd A. A. van den Berg, Remko Hersmus, J. Wolter Oosterhuis, Leendert H. J. Looijenga
Publikováno v:
Hannema, S E, Wolffenbuttel, K P, van Bever, Y, Brüggenwirth, H T, van den Berg, S A A, Hersmus, R, Oosterhuis, J W & Looijenga, L H J 2023, ' Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis ', Clinical Endocrinology, vol. 99, no. 1, pp. 58-63 . https://doi.org/10.1111/cen.14909
Clinical Endocrinology, 99(1), 58-63. Wiley-Blackwell Publishing Ltd
Clinical Endocrinology, 99(1), 58-63. Wiley-Blackwell
Clinical Endocrinology, 99(1), 58-63. Wiley-Blackwell Publishing Ltd
Clinical Endocrinology, 99(1), 58-63. Wiley-Blackwell
Objective: Individuals with 45,X/46,XY or 46,XY gonadal dysgenesis are at increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is advised in girls and considered in boys with atypical genitalia for undescended, macr
Autor:
Lisa M. van den Bersselaar, Judith M.A. Verhagen, Jos A. Bekkers, Marlies Kempers, Arjan C. Houweling, Marieke Baars, Eline Overwater, Yvonne Hilhorst-Hofstee, Daniela Q.C.M. Barge-Schaapveld, Eline Rompen, Ingrid P.C. Krapels, Eelco Dulfer, Marja W. Wessels, Bart L. Loeys, Hence J.M. Verhagen, Alessandra Maugeri, Jolien W. Roos-Hesselink, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar
Publikováno v:
Genetics in medicine
Genetics in Medicine, 24(10), 2112-2122. Lippincott Williams and Wilkins
Genetics in Medicine, 24, 2112-2122
Genetics in Medicine, 24(10), 2112-2122. Nature Publishing Group
Genetics in Medicine, 24(10), 2112-2122. ELSEVIER SCIENCE INC
Genetics in Medicine, 24(10), 2112-2122. Lippincott Williams & Wilkins
Genetics in Medicine, 24, 10, pp. 2112-2122
van den Bersselaar, L M, Verhagen, J M A, Bekkers, J A, Kempers, M, Houweling, A C, Baars, M, Overwater, E, Hilhorst-Hofstee, Y, Barge-Schaapveld, D Q C M, Rompen, E, Krapels, I P C, Dulfer, E, Wessels, M W, Loeys, B L, Verhagen, H J M, Maugeri, A, Roos-Hesselink, J W, Brüggenwirth, H T & van de Laar, I M B H 2022, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', Genetics in Medicine, vol. 24, no. 10, pp. 2112-2122 . https://doi.org/10.1016/j.gim.2022.07.009
Genetics in medicine, 24(10), 2112-2122. Lippincott Williams and Wilkins
Genetics in Medicine, 24(10), 2112-2122. Lippincott Williams and Wilkins
Genetics in Medicine, 24, 2112-2122
Genetics in Medicine, 24(10), 2112-2122. Nature Publishing Group
Genetics in Medicine, 24(10), 2112-2122. ELSEVIER SCIENCE INC
Genetics in Medicine, 24(10), 2112-2122. Lippincott Williams & Wilkins
Genetics in Medicine, 24, 10, pp. 2112-2122
van den Bersselaar, L M, Verhagen, J M A, Bekkers, J A, Kempers, M, Houweling, A C, Baars, M, Overwater, E, Hilhorst-Hofstee, Y, Barge-Schaapveld, D Q C M, Rompen, E, Krapels, I P C, Dulfer, E, Wessels, M W, Loeys, B L, Verhagen, H J M, Maugeri, A, Roos-Hesselink, J W, Brüggenwirth, H T & van de Laar, I M B H 2022, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', Genetics in Medicine, vol. 24, no. 10, pp. 2112-2122 . https://doi.org/10.1016/j.gim.2022.07.009
Genetics in medicine, 24(10), 2112-2122. Lippincott Williams and Wilkins
Purpose: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vascul
Autor:
Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak
Publikováno v:
Application of Clinical Genetics, 16, 89-97. Dove Medical Press Ltd.
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185
Diderich, K E M, Klapwijk, J E, van der Schoot, V, Brüggenwirth, H T, Joosten, M & Srebniak, M I 2023, ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ', Application of Clinical Genetics, vol. 16, pp. 89-97 . https://doi.org/10.2147/TACG.S411185
Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten, Malgorzata I Srebniak Department of Clinical Genetics, Erasmus MC, Rotterdam, the NetherlandsCorrespondence: Karin EM Diderich, Department of Clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b502c0b657e9ec63ddb24277ef76ef1
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537
Autor:
Kelly E. Ormond, Sam Riedijk, Malgorzata I. Srebniak, Hennie T. Brüggenwirth, Karin E. M. Diderich, Stina Lou, Melissa Hill, Jennifer Hammond, Celine Lewis, Attie T.J.I. Go, Jasmijn E. Klapwijk, Ida Vogel, Lutgarde C.P. Govaerts
Publikováno v:
Klapwijk, J E, Srebniak, M I, Go, A T J I, Govaerts, L C P, Lewis, C, Hammond, J, Hill, M, Lou, S, Vogel, I, Ormond, K E, Diderich, K E M, Brüggenwirth, H T & Riedijk, S R 2021, ' How to deal with uncertainty in prenatal genomics : A systematic review of guidelines and policies ', Clinical Genetics, vol. 100, no. 6, pp. 647-658 . https://doi.org/10.1111/cge.14010
Clinical Genetics
Clinical Genetics
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important
Autor:
Grazia M.S. Mancini, Kathleen Romijn, Alice S. Brooks, Hennie T. Brüggenwirth, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lutgarde C.P. Govaerts, Joan N.R. Kromosoeto, Malgorzata I. Srebniak, Robert-Jan H. Galjaard, Marike Polak, Diane Van Opstal, Attie T.J.I. Go, Yolande van Bever, Lies H. Hoefsloot, Marieke Joosten, Martina Wilke, Maarten F. C. M. Knapen, Karin E. M. Diderich
Publikováno v:
Acta Obstetricia et Gynecologica Scandinavica, 100(6), 1-10. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica
Acta Obstetricia et Gynecologica Scandinavica
IntroductionThe aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results.Materi
Autor:
Malgorzata I. Srebniak, Marieke Joosten, Jasmijn E. Klapwijk, Hennie T. Brüggenwirth, Karin E.M. Diderich
Publikováno v:
Diderich, K E M, Klapwijk, J E, Joosten, M, Brüggenwirth, H T & Srebniak, M I 2022, Whole-exome sequencing : A changing landscape of prenatal counseling . in Prenatal Genetic Counseling : Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty . Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, Elsevier, pp. 39-67 . https://doi.org/10.1016/B978-0-12-823329-0.00001-5
Prenatal Genetic Counseling
Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, 39-67
STARTPAGE=39;ENDPAGE=67;TITLE=Prenatal Genetic Counseling
Prenatal Genetic Counseling
Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty, 39-67
STARTPAGE=39;ENDPAGE=67;TITLE=Prenatal Genetic Counseling
In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7556c88ce33c0c73ad2494775784dde9
https://research.vumc.nl/en/publications/e15621f8-87ca-49bc-9872-7a85e796ec3c
https://research.vumc.nl/en/publications/e15621f8-87ca-49bc-9872-7a85e796ec3c