The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

por Hoogeveen-Westerveld, Marianne, van Unen, Leontine, van den Ouweland, Ans, Halley, Dicky, Hoogeveen, Andre, Nellist, Mark
Publicado 2012

Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death

por Kats-Ugurlu, Gursah, Hogeveen, Marije, Driessen, Ann, van den Ouweland, Ans M. W., de Kaa, Christina Hulsbergen-van
Publicado 2010

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex

por Santiago Lima, Arthur Jorge, Hoogeveen-Westerveld, Marianne, Nakashima, Akio, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Kikkawa, Ushio, Nellist, Mark
Publicado 2014

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

por Nellist, Mark, Sancak, Őzgür, Goedbloed, Miriam, Adriaans, Alwin, Wessels, Marja, Maat-Kievit, Anneke, Baars, Marieke, Dommering, Charlotte, van den Ouweland, Ans, Halley, Dicky
Publicado 2008

Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome

por Hajjaj, Anass, van Overdam, Koen A., Oldenburg, Rogier A., Koopmans, Anna E., van den Ouweland, Ans M. W., de Klein, Annelies, Kiliç, Emine
Publicado 2020

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

por Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Publicado 2009

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

por van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Publicado 2010

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

por Baas, Martijn, Burger, Elise Bette, van den Ouweland, Ans MW, Hovius, Steven ER, de Klein, Annelies, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Publicado 2021

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

por van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.
Publicado 2015

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

por Fenwick, Aimee L, Goos, Jacqueline AC, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans MW, Wall, Steven A, Mathijssen, Irene MJ, Wilkie, Andrew OM
Publicado 2014

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

por Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria
Publicado 2017

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

por Lammens, Chantal, Bleiker, Eveline, Aaronson, Neil, Vriends, Annette, Ausems, Margreet, Jansweijer, Maaike, Wagner, Anja, Sijmons, Rolf, van den Ouweland, Ans, van der Luijt, Rob, Spruijt, Liesbeth, Gómez García, Encarna, Ruijs, Mariëlle, Verhoef, Senno
Publicado 2009

Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers

por Kriege, Mieke, Jager, Agnes, Hollestelle, Antoinette, Berns, Els M. J. J., Blom, Jannet, Meijer-van Gelder, Marion E., Sieuwerts, Anieta M., van den Ouweland, Ans, Collée, J. Margriet, Kroep, Judith R., Martens, John W. M., Hooning, Maartje J., Seynaeve, Caroline
Publicado 2015

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol

por Den Ottelander, Bianca K, Van Veelen, Marie‐Lise C, De Goederen, Robbin, Van De Beeten, Stephanie DC, Dremmen, Marjolein HG, Loudon, Sjoukje E, Versnel, Sarah L, Van Den Ouweland, Ans MW, Van Dooren, Marieke F, Joosten, Koen FM, Mathijssen, Irene MJ
Publicado 2020

Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk

por Liu, Jingjing, Prager–van der Smissen, Wendy J. C., Schmidt, Marjanka K., Collée, J. Margriet, Cornelissen, Sten, Lamping, Roy, Nieuwlaat, Anja, Foekens, John A., Hooning, Maartje J., Verhoef, Senno, van den Ouweland, Ans M. W., Hogervorst, Frans B. L., Martens, John W. M., Hollestelle, Antoinette
Publicado 2016

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis r...

por Farkas, Katalin, Deák, Barbara Kocsis, Sánchez, Laura Cubells, Martínez, Ana Mercedes Victoria, Corell, Juan José Vilata, Botella, Alfredo Montoro, Benito, Goitzane Marcaida, López, Raquel Rodríguez, Vanecek, Tomas, Kazakov, Dmitry V., Kromosoeto, Joan N. R., van den Ouweland, Ans M. W., Varga, János, Széll, Márta, Nagy, Nikoletta
Publicado 2016

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

por Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
Publicado 2016

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

por Nellist, Mark, Brouwer, Rutger WW, Kockx, Christel EM, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike MP, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke JA, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred FJ
Publicado 2015

Legius Syndrome in Fourteen Families

por Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric
Publicado 2011

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

por Mühlebner, Angelika, van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., van den Ouweland, Ans M. W., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G. M., Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora
Publicado 2016