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A review on age‐related cancer risks in PTEN hamartoma tumor syndrome
Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Schuurs‐Hoeijmakers, Janneke H.M., Vos, Janet R.
Published in Clinical genetics (01.02.2021)
Published in Clinical genetics (01.02.2021)
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Journal Article
Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome
Schei-Andersen, Ane J., van Oirschot, Bart, Drissen, Meggie M.C.M., Schieving, Jolanda, Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Barton, Claire M., Hoogerbrugge, Nicoline
Published in International dental journal (01.12.2024)
Published in International dental journal (01.12.2024)
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Journal Article
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Journal Article
Clinical Significance of De Novo and Inherited Copy-Number Variation
Vulto-van Silfhout, Anneke T., Hehir-Kwa, Jayne Y., van Bon, Bregje W.M., Schuurs-Hoeijmakers, Janneke H.M., Meader, Stephen, Hellebrekers, Claudia J.M., Thoonen, Ilse J.M., de Brouwer, Arjan P.M., Brunner, Han G., Webber, Caleb, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B.A.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Journal Article
Experience in a PTEN Hamartoma Tumor Syndrome Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome
Bormans, Esther M G, Schuurs-Hoeijmakers, Janneke H M, van Setten, Petra, Hendricks, Linda A J, Drissen, Meggie M C M, Gotthardt, Martin, Claahsen-van der Grinten, Hedi L, Hoogerbrugge, Nicoline, Schieving, Jolanda H
Published in Journal of clinical research in pediatric endocrinology (19.03.2025)
Published in Journal of clinical research in pediatric endocrinology (19.03.2025)
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Journal Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel, Céline, Vulto-van Silfhout, Anneke T, Coe, Bradley P, Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo L, Willemsen, Marjolein H, Vissers, Lisenka E L M, Yntema, Helger G, Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B A, Kleefstra, Tjitske, Kooy, R Frank, Eichler, Evan E, Van der Aa, Nathalie
Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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Journal Article
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
Hinić, Snežana, Mensenkamp, Arjen R., Schuurs-Hoeijmakers, Janneke H. M., Brugnoletti, Fulvia, Vreede, Lilian, van Veen, Elke M., Mijzen, Barend, van der Post, Rachel S., Genuardi, Maurizio, Ligtenberg, Marjolijn J. L., Hoogerbrugge, Nicoline, de Voer, Richarda M.
Published in European journal of human genetics : EJHG (01.06.2025)
Published in European journal of human genetics : EJHG (01.06.2025)
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Journal Article
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
van der Made, Caspar I., Kersten, Simone, Chorin, Odelia, Engelhardt, Karin R., Ramakrishnan, Gayatri, Griffin, Helen, Schim van der Loeff, Ina, Venselaar, Hanka, Rothschild, Annick Raas, Segev, Meirav, Schuurs-Hoeijmakers, Janneke H.M., Mantere, Tuomo, Essers, Rick, Esteki, Masoud Zamani, Avital, Amir L., Loo, Peh Sun, Simons, Annet, Pfundt, Rolph, Warris, Adilia, Seyger, Marieke M., van de Veerdonk, Frank L., Netea, Mihai G., Slatter, Mary A., Flood, Terry, Gennery, Andrew R., Simon, Amos J., Lev, Atar, Frizinsky, Shirley, Barel, Ortal, van der Burg, Mirjam, Somech, Raz, Hambleton, Sophie, Henriet, Stefanie S.V., Hoischen, Alexander
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Du, Haowei, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Sals, Karen, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Dermaut, Bart, Sadikovic, Bekim, Yuan, Bo, Vergult, Sarah, Callewaert, Bert
Published in American journal of human genetics (07.03.2024)
Published in American journal of human genetics (07.03.2024)
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Journal Article
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome
Verkouteren, Babette JA, Roemen, Guido MJM, Schuurs-Hoeijmakers, Janneke HM, Abdul Hamid, Myrurgia, van Geel, Michel, Speel, Ernst-Jan M, Mosterd, Klara
Published in Journal of clinical pathology (01.05.2023)
Published in Journal of clinical pathology (01.05.2023)
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Journal Article
Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study
Schei‐Andersen, Ane J., Hendricks, Linda A. J., Post, Rachel S., Mensenkamp, Arjen R., Schieving, Jolanda, Adank, Muriel A., Duijkers, Floor, Jong, Mirjam, Jongemans, Marjolijn C. J., Hest, Liselotte P., Ierland, Yvette, Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Schuurs‐Hoeijmakers, Janneke H. M., Hoogerbrugge, Nicoline, Vos, Janet R.
Published in International journal of cancer (01.11.2024)
Published in International journal of cancer (01.11.2024)
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Journal Article
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Ba, Wei, Yan, Yan, Reijnders, Margot R.F., Schuurs-Hoeijmakers, Janneke H.M., Feenstra, Ilse, Bongers, Ernie M.H.F., Bosch, Daniëlle G.M., De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F., Veltman, Joris A., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Nadif Kasri, Nael, De Vries, Bert B.A.
Published in Human molecular genetics (01.03.2016)
Published in Human molecular genetics (01.03.2016)
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Journal Article
Deep Phenotyping of Pathology‐Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients
Schei‐Andersen, Ane J., Schuurs‐Hoeijmakers, Janneke H. M., Post, Rachel, Mensenkamp, Arjen R., Schieving, Jolanda, Adank, Muriel A., Jong, Mirjam, Jongemans, Marjolijn C.J., Hest, Liselotte P., Ierland, Yvette, Leter, Edward M., Nielsen, Maartje, Vos, Janet R., Hoogerbrugge, Nicoline
Published in Clinical genetics (01.10.2025)
Published in Clinical genetics (01.10.2025)
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Journal Article
Nationwide implementation and evaluation of the Tumor‐First workflow for genetic testing in ovarian carcinoma
Witjes, Vera M., Hullu, Joanne A., Hermkens, Dorien M. A., Smolders, Yvonne H. C. M., Swillens, Julie E. M., Slob, Sarah‐Lotte, Bosse, Tjalling, Mourits, Marian J. E., Ausems, Margreet G. E. M., Ligtenberg, Marjolijn J. L., Hoogerbrugge, Nicoline, Cillessen, Saskia A.G.M., Gille, Johan J.P., Komdeur, Fenne L., Mom, Constantijne H., Snijders, Malou L.H., Collée, J. Margriet, Dubbink, Hendrikus J., Groenendijk, Floris H., Korpershoek, Esther, Roes, Eva Maria, Asperen, Christi J., Gaarenstroom, Katja N., Luijt, Rob B., Stoep, Nienke, Steeghs, Elisabeth M.P., Blok, Marinus J., Kooreman, Loes F.S., Leter, Edward M., Slangen, Brigitte F.M., Speel, Ernst Jan M., Boven, Hester, Driel, Willemien J., Hogervorst, Frans B.L., Kolk, Lizet E., Rosenberg, Efraim H., Bart, Joost, Berger, Lieke P.V., Elst, Arja, Hout, Annemarie H., Yigit, Refika, Jansen, Anne M.L., Koole, Wouter, Krol‐Veraar, Johanna, Leng, Wendy W.J., Zweemer, Ronald P., Ligtenberg, Marjolijn J.L., Mensenkamp, Arjen R., Schuurs‐Hoeijmakers, Janneke H.M., Simons, Michiel
Published in International journal of cancer (01.08.2025)
Published in International journal of cancer (01.08.2025)
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Journal Article
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition
Arts, Rob J. W., van der Linden, Tristan J., van der Made, Caspar I., Hendriks, Marianne M. C., van der Heijden, Wouter A., de Mast, Quirijn, Schuurs-Hoeijmakers, Janneke H. M., Simons, Annet, Spaan, András N., Mulders-Manders, Catharina M., van de Veerdonk, Frank L.
Published in Journal of clinical immunology (01.01.2024)
Published in Journal of clinical immunology (01.01.2024)
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Journal Article
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome
Drissen, Meggie M.C.M., Vos, Janet R., Collado Camps, Estel, Schuurs-Hoeijmakers, Janneke H.M., Schieving, Jolanda H., Hoogerbrugge, Nicoline
Published in European journal of medical genetics (01.08.2024)
Published in European journal of medical genetics (01.08.2024)
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Journal Article
Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome
Bormans, Esther M.G., Schuurs-Hoeijmakers, Janneke H.M., van Setten, Petra, Hendricks, Linda A.J., Drissen, Meggie M.C.M., Gotthardt, Martin, Claahsen-van der Grinten, Hedi L., Hoogerbrugge, Nicoline, Schieving, Jolanda H.
Published in Journal of clinical research in pediatric endocrinology (08.08.2024)
Published in Journal of clinical research in pediatric endocrinology (08.08.2024)
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Journal Article
Non-serous ovarian cancer in PTEN Hamartoma Tumor Syndrome: additional evidence for increased risk
Schei-Andersen, Ane J., Witjes, Vera M., Vos, Janet R., Mensenkamp, Arjen R., van Altena, Anne, Schieving, Jolanda, Simons, Michiel, Schuurs-Hoeijmakers, Janneke H. M., Adank, Muriel A., van Hest, Liselotte P., van Ierland, Yvette, de Jong, Mirjam, Jongmans, Marjolijn C. J., Leter, Edward M., Nielsen, Maartje, Hoogerbrugge, Nicoline
Published in Familial cancer (18.03.2025)
Published in Familial cancer (18.03.2025)
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Journal Article