Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS)

Autor: Jan Loeffen, Saskia M. J. Hopman, Natasha K. A. van Eijkelenburg, Cora M. Aalfs, Fonnet E. Bleeker, Lieke P.V. Berger, Peter Hammond, Floor A. M. Postema, Charlotte J. Dommering, Jakob K. Anninga, Janna A. Hol, Raoul C.M. Hennekam, Anja Wagner, Maran J. W. Olderode-Berends, Marry M. van den Heuvel-Eibrink, Tom G.W. Letteboer, Lisethe Meijer, Johannes H. M. Merks, Corianne A. J. M. de Borgie, Wijnanda A. Kors

Publikováno v: Familial Cancer, 20, 263-271. SPRINGER
Familial Cancer
Familial Cancer, 20(4), 263-271. Springer Netherlands
Postema, F A M, Hopman, S M J, de Borgie, C A J M, Aalfs, C M, Anninga, J K, Berger, L P V, Bleeker, F E, Dommering, C J, van Eijkelenburg, N K A, Hammond, P, van den Heuvel-Eibrink, M M, Hol, J A, Kors, W A, Letteboer, T G W, Loeffen, J L C M, Meijer, L, Olderode-Berends, M J W, Wagner, A, Hennekam, R C & Merks, J H M 2021, ' Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS) : a prospective, observational, multi-center study ', Familial Cancer, vol. 20, no. 4, pp. 263-271 . https://doi.org/10.1007/s10689-021-00237-1

Recognizing a tumor predisposition syndrome (TPS) in a child with cancer is of clinical relevance. Earlier we developed a screening tool to increase diagnostic accuracy and clinical efficiency of identifying TPSs in children with cancer. Here we repo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cce1624134f5a9b26b091ecb172ecd
https://doi.org/10.1007/s10689-021-00237-1

Andersen-Tawil syndrome

Autor: T Rinnen, Raoul C.M. Hennekam, A A M Wilde, A. van Haeringen, R M Robles de Medina, Daniela Q.C.M. Barge-Schaapveld, A.S. van der Werf-'t Lam

Publikováno v: European journal of medical genetics, 65(1):104382. Elsevier Masson SAS
European Journal of Medical Genetics, 65(1). ELSEVIER

Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meetin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba3203d2f434054f1ea6a48d00df6bb
https://hdl.handle.net/1887/3276860

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

Autor: Rami Massie, Carine Bonnard, Ariana Kariminejad, Nasrinsadat Nabavizadeh, Bruno Reversade, Mehrdad Asghari Estiar, Franziska Paul, Shahriar Nafissi, Pui-Mun Wong, Paul P. Van Veldhoven, Hane Lee, Stanley F. Nelson, Calista Keow Leng Ng, Raoul C.M. Hennekam, Ali Reza Tavasoli, Guy A. Rouleau, Yalda Nilipoor, Ziv Gan-Or, Charles B. L. M. Majoie

Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consist

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9438d329a23a3c4c4dca9de94ac2f939
https://doi.org/10.1101/2021.10.03.21264281

Genetic control of tumor development in malformation syndromes

Autor: Jan C. Oosterwijk, Floor A. M. Postema, Raoul C.M. Hennekam

Publikováno v: American journal of medical genetics. Part A, 185(2), 324-335. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 1-12. Wiley
ISSUE=2;STARTPAGE=1;ENDPAGE=12;ISSN=1552-4825;TITLE=American Journal of Medical Genetics. Part A

One of the questions that arises frequently when caring for an individual with a malformation syndrome, is whether some form of tumor surveillance is indicated. In some syndromes there is a highly variable increased risk to develop tumors, while in o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f24b51a937f4fe8fc14f7588f1fd126
https://pure.amc.nl/en/publications/genetic-control-of-tumor-development-in-malformation-syndromes(5c05a004-cb23-4719-b8e6-05b183440bf5).html

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Autor: Marzena Wisniewska, Sirinart Molidperee, Juliet M. Taylor, Philippe M. Campeau, Tabib Dabir, Eliane Beauregard-Lacroix, Maria Vittoria Camurri, Jessica Tardif, Yolande van Bever, Sanjay M. Sisodiya, Klaus Dieterich, Pernille Mathiesen Tørring, Guillermo Pacheco-Cuellar, Ed Blair, Alexandre Dionne-Laporte, Dina Vind-Kezunovic, Dénes Zádori, Claudia Castiglioni, Norbert F. Ajeawung, Lisbeth Tranebjærg, Susan M. White, Raoul C.M. Hennekam

Publikováno v: Genetics in medicine, 23(1), 149-154. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 149-154. Lippincott Williams & Wilkins

Purpose: Biallelic variants in TBC1D24, which encodes a protein that regulates vesicular transport, are frequently identified in patients with DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [previously referred to as mental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5e948fc5b0b30ab20979f39cf6d2a25
https://doi.org/10.1038/s41436-020-00950-9