Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

Autor: J. J. Bakhuizen, Marc Tischkowitz, Karin van der Tuin, Helen Hanson, Fiona Lalloo, Marjolijn C.J. Jongmans, Karin Wadt

Publikováno v: Familial Cancer
Bakhuizen, J J, Hanson, H, van der Tuin, K, Lalloo, F, Tischkowitz, M, Wadt, K, Jongmans, M C J, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group & Expert Network Members 2021, ' Surveillance recommendations for DICER1 pathogenic variant carriers : a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group ', Familial Cancer, vol. 20, no. 4, pp. 337-348 . https://doi.org/10.1007/s10689-021-00264-y

DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance, and appraisal of pote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bd7878b91193786d1ada7d9e84ed224
http://europepmc.org/articles/PMC8484187

Putting genome-wide sequencing in neonates into perspective

Autor: Setareh Moghadasi, Emilia K. Bijlsma, Remco van Doorn, Monique Williams, Maartje van Rij, Remco Visser, Thomas P. Potjer, Arend D. J. ten Harkel, Yvette van Ierland, Laura Donker Kaat, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Nicolette S. den Hollander, Ratna N G B Tan, Ruben S G M Witlox, Regina Bökenkamp-Gramann, Julie W. Rutten, Manon Suerink, Marjolein Kriek, Yvonne Hilhorst-Hofstee, Sylke J. Steggerda, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Anne-Sophie van der Werf –’t Lam, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Dietje E. Fransen van de Putte, Arie van Haeringen, Karin van der Tuin, Esther A. R. Nibbeling

Publikováno v: Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins

Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be1375788cf6ae5d4c97f805a4d15f1
https://hdl.handle.net/1765/110952

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome

Autor: Hans Morreau, Marie Jose M. Pouwels, Marjolijn C.J. Jongmans, Frederik J. Hes, William D. Foulkes, Tom van Wezel, Marek Niedziela, Eveline J. Kamping, Karin van der Tuin, Sabine E. Hannema, Leanne de Kock

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 104, 277-284
The Journal of clinical endocrinology and metabolism, 104(2), 277-284. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 104, 2, pp. 277-284
Journal of Clinical Endocrinology and Metabolism, 104(2), 277-284. ENDOCRINE SOC
Journal of Clinical Endocrinology and Metabolism, 104(2), 277-284. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism

Context DICER1 syndrome is a rare autosomal-dominantly inherited disorder that predisposes to a variety of cancerous and noncancerous tumors of mostly pediatric and adolescent onset, including differentiated thyroid carcinoma (DTC). DTC has been hypo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a65408ce70e98c2864c2dbbdc9482c
http://hdl.handle.net/2066/202778

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Autor: Daniel R. Carvalho, Marcel M.A.M. Mannens, Katalin Szakszon, Nataliya Di Donato, Karin van der Tuin, Lilian Bomme Ousager, Gemma Poke, Jacek Pilch, Adam Shaw, Joke B. G. M. Verheij, Inge B. Mathijssen, Elga Fabia Belligni, Hermann-Josef Lüdecke, Anneke Maat-Kievit, Livia Garavelli, Anna Latos-Bielenska, A. Jeannette M. Hoogeboom, Johanna C. Herkert, Marleen Simon, Ton van Essen, Nicolette S. den Hollander, Anna Poluha, Margharita Silengo, Sabine Grønborg, Johanna M. van Hagen, Edit Polonkai, Astrid S. Plomp, Antony van der Steen, Cinzia Magnani, Connie T.R.M. Stumpel, Stella A. de Man, Jenneke van den Ende, Elisa Biamino, Hennie Bikker, Saskia M. Maas, Carlo Marcelis, Claudine Rieubland, Magdalena Badura-Stronka, Raoul C.M. Hennekam, Ellen Otten, Jan-Maarten Cobben, Renata Posmyk, Elisabeth Steichen, Arie van Haeringen, Maria Teresa Bonati, Aleksander Jamsheer, Maartje Nielsen

Publikováno v: European journal of medical genetics
European Journal of Medical Genetics, 58(5), 279-292. Elsevier
European journal of medical genetics, 58(5), 279-292. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 58(5), 279-292. Elsevier Masson SAS
European Journal of Medical Genetics, 58(5), 279-292
European Journal of Medical Genetics, 58(5), 279-292. Elsevier Masson
Maas, S M, Shaw, A C, Bikker, H, Lüdecke, H-J, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, M T, Carvalho, D R, Cobben, J, de Man, S A, Den Hollander, N S, Di Donato, N, Garavelli, L, Grønborg, S, Herkert, J C, Hoogeboom, A J M, Jamsheer, A, Latos-Bielenska, A, Maat-Kievit, A, Magnani, C, Marcelis, C, Mathijssen, I B, Nielsen, M, Otten, E, Ousager, L B, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Simon, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, J M, Verheij, J B G M, Mannens, M M & Hennekam, R C 2015, ' Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome ', European Journal of Medical Genetics, vol. 58, no. 5, pp. 279-292 . https://doi.org/10.1016/j.ejmg.2015.03.002
Maas, S M, Shaw, A C, Bikker, H, Ludecke, H J, van der Tuin, K, Badura-Stronka, M, Belligni, E, Biamino, E, Bonati, M T, Carvalho, D R, Cobben, J, de Man, S A, den Hollander, N S, Di Donato, N, Garavelli, L, Gronborg, S, Herkert, J C, Hoogeboom, A J M, Jamsheer, A, Latos-Bielenska, A, Maat-Kievit, A, Magnani, C, Marcelis, C, Mathijssen, I B, Nielsen, M, Otten, E, Ousager, L B, Pilch, J, Plomp, A, Poke, G, Poluha, A, Posmyk, R, Rieubland, C, Silengo, M, Simon, M, Steichen, E, Stumpel, C, Szakszon, K, Polonkai, E, van den Ende, J, van der Steen, A, van Essen, T, van Haeringen, A, van Hagen, J M, Verheij, J B G M, Mannens, M M & Hennekam, R C 2015, ' Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome ', European Journal of Medical Genetics, vol. 58, no. 5, pp. 279-292 . https://doi.org/10.1016/j.ejmg.2015.03.002
European journal of medical genetics, 58(5), 279-292. Elsevier Masson SAS

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6e7a7084a30f463b2fe65375363a4f
https://pure.eur.nl/en/publications/55be3a9f-ad53-48c9-b688-120c2e5ca278

[A monogenetic disorder instead of type 1 diabetes].

Autor: van der Tuin K; Leids Universitair Medisch Centrum, afd. Klinische Genetica, Leiden.; Contact: Karin van der Tuin (k.van_der_tuin@lumc.nl)., de Vries LS; Leids Universitair Medisch Centrum, afd. Neonatologie, Leiden., van den Reek JJCC; LeefKrachtig, Nijmegen., Odink RJ; Stichting Kidz&Ko, Eindhoven.

Publikováno v: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2023 Apr 19; Vol. 167. Date of Electronic Publication: 2023 Apr 19.