Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Saskia M. J. Hopman"'
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
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
Autor:
O Michaeli, N Waespe, Laurence Brugières, Christian P. Kratz, Miriam J. Smith, Alexandra Russo, Steffen Hirsch, D G Evans, Saskia M. J. Hopman, B Doergeloh, H Salvador, V. Ridola, M. Jorgensen, T Milde, Léa Guerrini-Rousseau, B Claret, M Kuhlen
Publikováno v:
Familial Cancer
FAM CANCER
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Guerrini-Rousseau, L; Smith, M J; Kratz, C P; Doergeloh, B; Hirsch, S; Hopman, S M J; Jorgensen, M; Kuhlen, M; Michaeli, O; Milde, T; Ridola, V; Russo, A; Salvador, H; Waespe, N; Claret, B; Brugieres, L; Evans, D G (2021). Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG). Familial Cancer, 20(4), pp. 317-325. Springer 10.1007/s10689-021-00247-z
FAM CANCER
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Guerrini-Rousseau, L; Smith, M J; Kratz, C P; Doergeloh, B; Hirsch, S; Hopman, S M J; Jorgensen, M; Kuhlen, M; Michaeli, O; Milde, T; Ridola, V; Russo, A; Salvador, H; Waespe, N; Claret, B; Brugieres, L; Evans, D G (2021). Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG). Familial Cancer, 20(4), pp. 317-325. Springer 10.1007/s10689-021-00247-z
Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal c
Autor:
Johannes H. M. Merks, Raoul C.M. Hennekam, Saskia M. J. Hopman, Floor A. M. Postema, Hanne Hoskens, Michael Suttie, Harold Matthews, Peter Hammond, Peter Claes, Hilde Peeters
Publikováno v:
Computer methods and programs in biomedicine, 205:106093. Elsevier Ireland Ltd
UNLABELLED: Background and Objective; Genetic risk factors for childhood cancer may also influence facial morphology. 3D photography can be used in the recognition of differences in face shape among individuals. In previous research, 3D facial photog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2065ffc45b92c907b302ed8be8ad5046
https://pure.amc.nl/en/publications/3d-analysis-of-facial-morphology-in-dutch-children-with-cancer(9cccbf92-17e2-4a73-b7b6-75d5629f89b2).html
https://pure.amc.nl/en/publications/3d-analysis-of-facial-morphology-in-dutch-children-with-cancer(9cccbf92-17e2-4a73-b7b6-75d5629f89b2).html
Autor:
Jet Bliek, Carel J. M. van Noesel, Saskia M. J. Hopman, Johannes H. M. Merks, Raoul C.M. Hennekam, Jan C. Oosterwijk, Floor A. M. Postema, Laura J. C. M. van Zutven
Publikováno v:
Postema, F A M, Bliek, J, van Noesel, C J M, van Zutven, L J C M, Oosterwijk, J C, Hopman, S M J, Merks, J H M & Hennekam, R C 2019, ' Multiple tumors due to mosaic genome-wide paternal uniparental disomy ', Pediatric Blood and Cancer, vol. 66, no. 6, e27715 . https://doi.org/10.1002/pbc.27715
Pediatric Blood and Cancer, 66(6). Wiley-Liss Inc.
Pediatric Blood & Cancer, 66(6):e27715. Wiley-Liss Inc.
Pediatric blood & cancer, 66(6):e27715. Wiley-Liss Inc.
Pediatric blood & cancer, 66(6):27715. Wiley
Pediatric Blood and Cancer, 66(6):e27715. Wiley-Liss Inc.
Pediatric Blood and Cancer, 66(6). Wiley-Liss Inc.
Pediatric Blood & Cancer, 66(6):e27715. Wiley-Liss Inc.
Pediatric blood & cancer, 66(6):e27715. Wiley-Liss Inc.
Pediatric blood & cancer, 66(6):27715. Wiley
Pediatric Blood and Cancer, 66(6):e27715. Wiley-Liss Inc.
Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith-Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099c880226710aa18806a4605c139796
https://research.vumc.nl/en/publications/fc824917-c3c7-477f-9d03-03f81ac79b33
https://research.vumc.nl/en/publications/fc824917-c3c7-477f-9d03-03f81ac79b33
Autor:
Yu Chang Wang, Dorothée Bouron-Dal Soglio, Kristine L. Doyle, Dunarel Badescu, Saskia M. J. Hopman, Jiannis Ragoussis, Evan Weber, Barbara Rivera, John R. Priest, Charlotte Engelenberg, Timothée Revil, Aparna Ramasubramanian, Linus Forsmark, Antonia H. M. Bouts, Johannes H. M. Merks, Mona Wu, Johanna M. van Hagen, Nelly Sabbaghian, William D. Foulkes, Tonja Toler, Claudio Sandoval, David A. Plager, Janine Callahan, Leanne de Kock
Publikováno v:
Journal of Medical Genetics, 53(1), 43-52. BMJ Publishing Group
Journal of medical genetics, 53(1), 43-52. BMJ Publishing Group
Journal of Medical Genetics, 53(1), 43. BMJ Publishing Group
de Kock, L, Wang, Y C, Revil, T, Badescu, D, Rivera, B, Sabbaghian, N, Wu, M, Weber, E, Sandoval, C, Hopman, S M J, Merks, J H M, van Hagen, J M, Bouts, A H M, Plager, D A, Ramasubramanian, A, Forsmark, L, Doyle, K L, Toler, T, Callahan, J, Engelenberg, C, Bouron-Dal Soglio, D, Priest, J R, Ragoussis, J & Foulkes, W D 2016, ' High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome ', Journal of Medical Genetics, vol. 53, no. 1, pp. 43-52 . https://doi.org/10.1136/jmedgenet-2015-103428
Journal of medical genetics, 53(1), 43-52. BMJ Publishing Group
Journal of Medical Genetics, 53(1), 43. BMJ Publishing Group
de Kock, L, Wang, Y C, Revil, T, Badescu, D, Rivera, B, Sabbaghian, N, Wu, M, Weber, E, Sandoval, C, Hopman, S M J, Merks, J H M, van Hagen, J M, Bouts, A H M, Plager, D A, Ramasubramanian, A, Forsmark, L, Doyle, K L, Toler, T, Callahan, J, Engelenberg, C, Bouron-Dal Soglio, D, Priest, J R, Ragoussis, J & Foulkes, W D 2016, ' High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome ', Journal of Medical Genetics, vol. 53, no. 1, pp. 43-52 . https://doi.org/10.1136/jmedgenet-2015-103428
Background Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in
Autor:
Raoul C.M. Hennekam, Floor A. M. Postema, Johannes H. M. Merks, Saskia M. J. Hopman, Matthew A. Deardorff
Publikováno v:
American journal of medical genetics. Part A, 173(8), 2293-2295. Wiley-Liss Inc.
Autor:
Eveline J. Kamping, Wojciech Młynarski, Diede A G van Bladel, Nicoline Hoogerbrugge, Anja Wagner, Roland P. Kuiper, Marjolijn J. L. Ligtenberg, Marjolijn C.J. Jongmans, Jan Loeffen, Denisa Ilencikova, Dylan A. Mordaunt, Lesley M McGregor, Eveline S. J. M. de Bont, Antonis Kattamis, Gijs W. E. Santen, Thatjana Gardeitchik, Arjen R. Mensenkamp, Elizabeth Thompson, Agata Pastorczak, Martine J. van Belzen, Saskia M. J. Hopman, Maran J. W. Olderode-Berends, Anneke Vulto van Silfhout, Carlo Marcelis, David A. Koolen, Esmé Waanders, Illja J. Diets, Peter M. Hoogerbrugge, Erica H. Gerkes
Publikováno v:
Clinical Cancer Research, 24(7), 1594-1603. AMER ASSOC CANCER RESEARCH
Clinical Cancer Research, 24, 1594-1603
Clinical Cancer Research, 24, 7, pp. 1594-1603
Clinical Cancer Research, 24(7), 1594-1603. American Association for Cancer Research Inc.
Clinical Cancer Research, 24(7), 1594. American Association for Cancer Research Inc.
Clinical Cancer Research, 24, 1594-1603
Clinical Cancer Research, 24, 7, pp. 1594-1603
Clinical Cancer Research, 24(7), 1594-1603. American Association for Cancer Research Inc.
Clinical Cancer Research, 24(7), 1594. American Association for Cancer Research Inc.
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fd2245783b94ce74ea7d2da3c98132b
https://research.rug.nl/en/publications/33ddf371-e760-4c69-ae6e-86f68aeabf0b
https://research.rug.nl/en/publications/33ddf371-e760-4c69-ae6e-86f68aeabf0b
Publikováno v:
Pediatric blood & cancer, 65(1):e26718. Wiley-Liss Inc.
Pediatric Blood & Cancer, 65(1). Wiley-Liss Inc.
Pediatric Blood & Cancer, 65(1). Wiley-Liss Inc.
Up to 8.5% of children with cancer have a genetic cause for their cancer: a tumor predisposition syndrome (TPS). Diagnosing a TPS is of great importance, as it may have major consequences for clinical care. Patients with TPSs require specific monitor
Autor:
Egbert J.W. Redeker, Annemiek Landlust, Mariet W. Elting, Jo Moss, Yvonne Hilhorst-Hofstee, Juan Pié, Saskia M. J. Hopman, Rieneke Vorstenbosch, Ingrid D. C. van Balkom, Angelo Selicorni, Anne Marie Bisgaard, Sandra Jansen, Chris Oliver, Caroline Michot, Sylvia A. Huisman, Maninder Kaur, Ilaria Parenti, Katta M. Girisha, Zeynep Tümer, Ingrid Bader, Matthew A. Deardorff, Claudine Rieubland, Davor Lessel, Sigrid Piening, Mala Isrie, Denise Horn, Paul A. Mulder, Constanza Cinca, Tara L. Wenger, Cathrine Jespersgaard, Jolanta Wierzba, Karin E. M. Diderich, Phillis Lakeman, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Anthonie J. van Essen, Alice S. Brooks, Raoul C.M. Hennekam, Frank J. Kaiser, Ian D. Krantz, Feliciano J. Ramos, Tjitske Kleefstra, David R. FitzPatrick, Sarah E. Noon, Anna Cereda, Silvia Russo, Dinah Clark, Valérie Cormier-Daire
Publikováno v:
American Journal of Medical Genetics Part A, 173(8), 2108-2125
American Journal of Medical Genetics, Part A, 173(8), 2108-2125. Wiley-Liss Inc.
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
American Journal of Medical Genetics Part A, 173(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
American journal of medical genetics. Part A, 173A(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
American Journal of Medical Genetics, Part A, 173(8), 2108-2125. Wiley-Liss Inc.
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
American Journal of Medical Genetics Part A, 173(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
American journal of medical genetics. Part A, 173A(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
Item does not contain fulltext SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052e3e400550993f8afb8d8d666e286a
http://hdl.handle.net/1887/94919
http://hdl.handle.net/1887/94919
Autor:
Saskia M. J. Hopman, Michael Suttie, Raoul C.M. Hennekam, Johannes H. M. Merks, Peter Hammond
Publikováno v:
European journal of human genetics, 22(11), 1268-1271. Nature Publishing Group
3D analysis of facial morphology has delineated facial phenotypes in many medical conditions and detected fine grained differences between typical and atypical patients to inform genotype-phenotype studies. Next-generation sequencing techniques have