The role of DNA dependent protein kinase in synapsis of DNA ends

por Weterings, Eric, Verkaik, Nicole S., Brüggenwirth, Hennie T., Hoeijmakers, Jan H. J., van Gent, Dik C.
Publicado 2010

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

por Diderich, Karin E M, Klapwijk, Jasmijn E, van der Schoot, Vyne, Brüggenwirth, Hennie T, Joosten, Marieke, Srebniak, Malgorzata I
Publicado 2023

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

por Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Publicado 2010

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm

por van de Luijtgaarden, Koen M., Heijsman, Daphne, Maugeri, Alessandra, Weiss, Marjan M., Verhagen, Hence J. M., IJpma, Arne, Brüggenwirth, Hennie T., Majoor-Krakauer, Danielle
Publicado 2015

Clinical aspects of a large group of adults with Angelman syndrome

por den Besten, Inge, de Jong, Rianne F., Geerts‐Haages, Amber, Bruggenwirth, Hennie T., Koopmans, Marije, Brooks, Alice, Elgersma, Ype, Festen, Dederieke A. M., Valstar, Marlies J.
Publicado 2020

RF17 | PMON27 Genetic Subtype Differences in Relation to Health Problems Among Adults With Prader-Willi Syndrome

por Pellikaan, Karlijn, Rosenberg, Anna, Wellink, Charlotte, Garcia, Juan Tellez, van Abswoude, Denise, van Zutven, Laura, Brüggenwirth, Hennie, Resnick, James, van der Lely, Aart Jan, de Graaff, Laura
Publicado 2022

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman...

por Geerts‐Haages, Amber, Bossuyt, Stijn N. V., den Besten, Inge, Bruggenwirth, Hennie, van der Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies
Publicado 2020

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies

por Klapwijk, Jasmijn E., Srebniak, Malgorzata I., Go, Attie T. J. I., Govaerts, Lutgarde C. P., Lewis, Celine, Hammond, Jennifer, Hill, Melissa, Lou, Stina, Vogel, Ida, Ormond, Kelly E., Diderich, Karin E. M., Brüggenwirth, Hennie T., Riedijk, Sam R.
Publicado 2021

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

por Juniarto, A. Zulfa, van der Zwan, Yvonne G., Santosa, Ardy, Hersmus, Remko, de Jong, Frank H., Olmer, Renske, Bruggenwirth, Hennie T., Themmen, Axel P. N., Wolffenbuttel, Katja P., Looijenga, Leendert H. J., Faradz, Sultana M. H., Drop, Stenvert L. S.
Publicado 2012

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

por Hersmus, Remko, van der Zwan, Yvonne G., Stoop, Hans, Bernard, Pascal, Sreenivasan, Rajini, Oosterhuis, J. Wolter, Brüggenwirth, Hennie T., de Boer, Suzan, White, Stefan, Wolffenbuttel, Katja P., Alders, Marielle, McElreavy, Kenneth, Drop, Stenvert L. S., Harley, Vincent R., Looijenga, Leendert H. J.
Publicado 2012

Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

por Rosenberg, Anna G. W., Wellink, Charlotte M., Tellez Garcia, Juan M., Pellikaan, Karlijn, Van Abswoude, Denise H., Davidse, Kirsten, Van Zutven, Laura J. C. M., Brüggenwirth, Hennie T., Resnick, James L., Van der Lely, Aart J., De Graaff, Laura C. G.
Publicado 2022

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature

por Pellikaan, Karlijn, van Woerden, Geeske M., Kleinendorst, Lotte, Rosenberg, Anna G. W., Horsthemke, Bernhard, Grosser, Christian, van Zutven, Laura J. C. M., van Rossum, Elisabeth F. C., van der Lely, Aart J., Resnick, James L., Brüggenwirth, Hennie T., van Haelst, Mieke M., de Graaff, Laura C. G.
Publicado 2021

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

por van Bever, Yolande, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Publicado 2020

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

por Brosens, Erwin, Peters, Nina C. J., van Weelden, Kim S., Bendixen, Charlotte, Brouwer, Rutger W. W., Sleutels, Frank, Bruggenwirth, Hennie T., van Ijcken, Wilfred F. J., Veenma, Danielle C. M., Otter, Suzan C. M. Cochius-Den, Wijnen, Rene M. H., Eggink, Alex J., van Dooren, Marieke F., Reutter, Heiko Martin, Rottier, Robbert J., Schnater, J. Marco, Tibboel, Dick, de Klein, Annelies
Publicado 2022

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

por Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Publicado 2020

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease

por Verhagen, Judith M. A., Burger, Joyce, Bekkers, Jos A., den Dekker, Alexander T., von der Thüsen, Jan H., Zajec, Marina, Brüggenwirth, Hennie T., van der Sterre, Marianne L. T., van den Born, Myrthe, Luider, Theo M., van IJcken, Wilfred F. J., Wessels, Marja W., Essers, Jeroen, Roos-Hesselink, Jolien W., van der Pluijm, Ingrid, van de Laar, Ingrid M. B. H., Brosens, Erwin
Publicado 2021

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

por Persani, Luca, Cools, Martine, Ioakim, Stamatina, Faisal Ahmed, S, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T, Davies, Justin H, De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H, Hiort, Olaf, Holterhus, Paul-Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella
Publicado 2022

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

por Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Publicado 2015