Zobrazeno 1 - 10
of 52
pro vyhledávání: '"A W M Nieuwint"'
Publikováno v:
Anemia, Vol 2012 (2012)
Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of
Externí odkaz:
https://doaj.org/article/f64d2709500c4622afcda90ac7b52874
Publikováno v:
Clinical case reports, 6(7), 1313-1316. John Wiley and Sons Ltd
Bhola, S L, Nieuwint, A W M & Stuurman, K E 2018, ' A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH ', Clinical case reports, vol. 6, no. 7, pp. 1313-1316 . https://doi.org/10.1002/ccr3.1563
Clinical Case Reports, 6(7), 1313-1316. John Wiley & Sons Ltd.
Clinical Case Reports
Bhola, S L, Nieuwint, A W M & Stuurman, K E 2018, ' A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH ', Clinical case reports, vol. 6, no. 7, pp. 1313-1316 . https://doi.org/10.1002/ccr3.1563
Clinical Case Reports, 6(7), 1313-1316. John Wiley & Sons Ltd.
Clinical Case Reports
Key Clinical Message In addition to detecting trisomies of whole chromosomes, QF‐PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68fdc267f99883cbbfef3c1de269ddef
https://doi.org/10.1002/ccr3.1563
https://doi.org/10.1002/ccr3.1563
Autor:
Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li
Publikováno v:
Nature Genetics, 49(1), 36-45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Group
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5007f204ae92a2e6bbed6b2be1af11
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c
https://pure.eur.nl/en/publications/0fcc4f6c-08f0-40fb-8699-0b62afce544c
Autor:
Aggie W. M. Nieuwint, Michel L. M. Berens, Clemens Mellink, Gerrit A. Meijer, Marjan M. Weiss, Hendrik F. van Essen, Oscar Krijgsman, Renske D.M. Steenbergen, Bauke Ylstra, Paul P. Eijk, Danielle Israeli
Publikováno v:
Cellular Oncology, 36(1), 27-36. IOS Press
Krijgsman, O, Israeli, D, van Essen, H F B, Eijk, P P, Berens, M L M, Mellink, C H M, Nieuwint, A W M, Weiss, M M, Steenbergen, R D M, Meijer, G A & Ylstra, B 2013, ' Detection limits of DNA copy number alterations in heterogeneous cell populations ', Cellular Oncology, vol. 36, no. 1, pp. 27-36 . https://doi.org/10.1007/s13402-012-0108-2
Cellular oncology (Dordrecht), 36(1), 27-36. IOS Press
Krijgsman, O, Israeli, D, van Essen, H F B, Eijk, P P, Berens, M L M, Mellink, C H M, Nieuwint, A W M, Weiss, M M, Steenbergen, R D M, Meijer, G A & Ylstra, B 2013, ' Detection limits of DNA copy number alterations in heterogeneous cell populations ', Cellular Oncology, vol. 36, no. 1, pp. 27-36 . https://doi.org/10.1007/s13402-012-0108-2
Cellular oncology (Dordrecht), 36(1), 27-36. IOS Press
Array Comparative Genomic Hybridization (aCGH) is a widely used technique to assess chromosomal copy number alterations. Chromosomal content, however, is often not uniform throughout cell populations. Here we evaluated to what extent aCGH can detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b7a04243d3f669dbcf7b71ae63b1e9
https://doi.org/10.1007/s13402-012-0108-2
https://doi.org/10.1007/s13402-012-0108-2
Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma
Autor:
Hans Joenje, Aggie W. M. Nieuwint, A. Peggy Graveland, Anneke B. Oostra, Géke B. Flach, C. René Leemans, Ruud H. Brakenhoff, Boudewijn J.M. Braakhuis
Publikováno v:
Journal of Oral Pathology and Medicine, 45(3), 189-192. Wiley-Blackwell
Braakhuis, B J M, Nieuwint, A W M, Oostra, A B, Joenje, H, Flach, G B, Graveland, A P, Brakenhoff, R H & Leemans, C R 2016, ' Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma ', Journal of Oral Pathology and Medicine, vol. 45, no. 3, pp. 189-192 . https://doi.org/10.1111/jop.12349
Braakhuis, B J M, Nieuwint, A W M, Oostra, A B, Joenje, H, Flach, G B, Graveland, A P, Brakenhoff, R H & Leemans, C R 2016, ' Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma ', Journal of Oral Pathology and Medicine, vol. 45, no. 3, pp. 189-192 . https://doi.org/10.1111/jop.12349
Objective Oral squamous cell carcinoma (OSCC) may develop in young adults. In contrast to older patients, the well-known etiological factors, exposure to tobacco and alcohol, play a minor role in the carcinogenesis in this patient group. It has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c77eb996df5488104531b6d456ddc07
https://research.vumc.nl/en/publications/dea17924-2916-45c1-b8e1-26469bc0bbcd
https://research.vumc.nl/en/publications/dea17924-2916-45c1-b8e1-26469bc0bbcd
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions
Autor:
N Morrison, Marjolein H. Willemsen, Helger G. Yntema, John Tolmie, N. de Leeuw, Willy M. Nillesen, Gea Beunders, Tjitske Kleefstra, Han G. Brunner, M Callaghan, S T M Keijzers-Vloet, A W M Nieuwint, Alexander Hoischen, J M van Hagen
Publikováno v:
Willemsen, M H, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, W M, Yntema, H G, van Hagen, J M, Nieuwint, A W M, Morrison, N, Keijzers-Vloet, S T M, Hoischen, A, Brunner, H G, Tolmie, J & Kleefstra, T 2011, ' Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ', Clinical Genetics, vol. 80, no. 1, pp. 31-38 . https://doi.org/10.1111/j.1399-0004.2010.01607.x
Clinical Genetics, 80(1), 31-38. Wiley-Blackwell
Clinical Genetics, 80, 1, pp. 31-8
Clinical Genetics, 80, 31-8
Clinical Genetics, 80(1), 31-38. Wiley-Blackwell
Clinical Genetics, 80, 1, pp. 31-8
Clinical Genetics, 80, 31-8
Contains fulltext : 97912.pdf (Publisher’s version ) (Closed access) The Kleefstra syndrome (Online Mendelian Inheritance in Man 607001) is caused by a submicroscopic 9q34.3 deletion or by intragenic euchromatin histone methyl transferase 1 (EHMT1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f209a7a2d604877a0d5b2e8087df48ff
https://hdl.handle.net/2066/97912
https://hdl.handle.net/2066/97912
Autor:
H Joenje, Detlev Schindler, E. T. Korthof, Thomas Bettecken, Beatrice Schuster, Anneke B. Oostra, J.P. de Winter, Karolina Hain, A. W. M. Nieuwint, Chantal Stoepker, Yvonne Hilhorst-Hofstee, Katharina Eirich, Nicolaas G. J. Jaspers, Martin A. Rooimans, John Rouse, Jurgen Steltenpool
Publikováno v:
Nature Genetics, 43(2), 138-U85
Nature Genetics, 43(2), 138-141. Nature Publishing Group
Stoepker, C, Hain, K, Schuster, B, Hilhorst-Hofstee, Y, Rooimans, M A, Steltenpool, J, Oostra, A B, Eirich, K, Korthof, E T, Nieuwint, A W M, Jaspers, N G J, Bettecken, T, Joenje, H, Schindler, D, Rouse, J & de Winter, J P 2011, ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ', Nature Genetics, vol. 43, no. 2, pp. 138-141 . https://doi.org/10.1038/ng.751
Nature Genetics, 43(2), 138-U85. Nature Publishing Group
Nature Genetics, 43(2), 138-141. Nature Publishing Group
Stoepker, C, Hain, K, Schuster, B, Hilhorst-Hofstee, Y, Rooimans, M A, Steltenpool, J, Oostra, A B, Eirich, K, Korthof, E T, Nieuwint, A W M, Jaspers, N G J, Bettecken, T, Joenje, H, Schindler, D, Rouse, J & de Winter, J P 2011, ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ', Nature Genetics, vol. 43, no. 2, pp. 138-141 . https://doi.org/10.1038/ng.751
Nature Genetics, 43(2), 138-U85. Nature Publishing Group
DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8467e540f6f3e29f23a5db1d26cf6e3
https://doi.org/10.1038/ng.751
https://doi.org/10.1038/ng.751
Autor:
Dominique Smeets, Claudia A. L. Ruivenkamp, Martin Poot, A. W. M. Nieuwint, Ron Hochstenbach, Abeltje M. Polstra, Birgit Sikkema-Raddatz, Pino J. Poddighe, John J.M. Engelen, Ellen van Binsbergen
Publikováno v:
European Journal of Medical Genetics, 52(4), 161-169. Elsevier Masson SAS
European journal of medical genetics, 52(4), 161-169. ELSEVIER SCIENCE BV
Hochstenbach, R, van Binsbergen, E, Engelen, J J M, Nieuwint, A W M, Polstra, A, Poddighe, P, Ruivenkamp, C, Sikkema-Raddatz, B, Smeets, D & Poot, M 2009, ' Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands ', European Journal of Medical Genetics, vol. 52, no. 4, pp. 161-169 . https://doi.org/10.1016/j.ejmg.2009.03.015
European journal of medical genetics, 52(4), 161-169. Elsevier Masson SAS
European Journal of Medical Genetics, 52, 4, pp. 161-9
European Journal of Medical Genetics, 52, 161-9
European Journal of Medical Genetics, 52(4), 161-169. Elsevier Masson
European journal of medical genetics, 52(4), 161-169. ELSEVIER SCIENCE BV
Hochstenbach, R, van Binsbergen, E, Engelen, J J M, Nieuwint, A W M, Polstra, A, Poddighe, P, Ruivenkamp, C, Sikkema-Raddatz, B, Smeets, D & Poot, M 2009, ' Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands ', European Journal of Medical Genetics, vol. 52, no. 4, pp. 161-169 . https://doi.org/10.1016/j.ejmg.2009.03.015
European journal of medical genetics, 52(4), 161-169. Elsevier Masson SAS
European Journal of Medical Genetics, 52, 4, pp. 161-9
European Journal of Medical Genetics, 52, 161-9
European Journal of Medical Genetics, 52(4), 161-169. Elsevier Masson
Anomalies of chromosome number and structure are considered to be the most frequent cause of unexplained, non-syndromic developmental delay and mental retardation (DD/MR). High-resolution, genome-wide, array-based segmental aneusomy profiling has eme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aecc41983a672e69a15485f8af1a0cfe
https://doi.org/10.1016/j.ejmg.2009.03.015
https://doi.org/10.1016/j.ejmg.2009.03.015
Autor:
Anne Hagemeijer, Clemens Mellink, Georgine E. de Greef, Shama L. van Zelderen-Bhola, Wim L.J. van Putten, Martine Jotterand, Aggie W. M. Nieuwint, Dimitri Breems, H. Berna Beverloo, Klasien B. J. Gerssen-Schoorl, Bob Löwenberg
Publikováno v:
Journal of Clinical Oncology, 26(29), 4791-4797. American Society of Clinical Oncology
Journal of Clinical Oncology, 26(29), 4791-4797. AMER SOC CLINICAL ONCOLOGY
Breems, D A, Van Putten, W L J, De Greef, G E, Van Zelderen-Bhola, S L, Gerssen-Schoorl, K B J, Mellink, C H M, Nieuwint, A, Jotterand, M, Hagemeijer, A, Beverloo, H B & Löwenberg, B 2008, ' Monosomal karyotype in acute myeloid leukemia : A better indicator of poor prognosis than a complex karyotype ', Journal of Clinical Oncology, vol. 26, no. 29, pp. 4791-4797 . https://doi.org/10.1200/JCO.2008.16.0259
Journal of clinical oncology, 26(29), 4791-4797. American Society of Clinical Oncology
Journal of Clinical Oncology, 26(29), 4791-4797. AMER SOC CLINICAL ONCOLOGY
Breems, D A, Van Putten, W L J, De Greef, G E, Van Zelderen-Bhola, S L, Gerssen-Schoorl, K B J, Mellink, C H M, Nieuwint, A, Jotterand, M, Hagemeijer, A, Beverloo, H B & Löwenberg, B 2008, ' Monosomal karyotype in acute myeloid leukemia : A better indicator of poor prognosis than a complex karyotype ', Journal of Clinical Oncology, vol. 26, no. 29, pp. 4791-4797 . https://doi.org/10.1200/JCO.2008.16.0259
Journal of clinical oncology, 26(29), 4791-4797. American Society of Clinical Oncology
Purpose To investigate the prognostic value of various cytogenetic components of a complex karyotype in acute myeloid leukemia (AML). Patients and Methods Cytogenetics and overall survival (OS) were analyzed in 1,975 AML patients age 15 to 60 years.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fa2eaa837892367cd4aaa5b127db09
https://doi.org/10.1200/jco.2008.16.0259
https://doi.org/10.1200/jco.2008.16.0259
An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation
Autor:
Jiddeke M. van de Kamp, Sandra Jansen, Margot Hankel, Arjan Bouman, Bauke Adriaanse, Gita M. B. Tan-Sindhunata, Marjan M. Weiss, Aggie W. M. Nieuwint
Publikováno v:
Clinical Dysmorphology, 24(2), 68-74. Lippincott Williams and Wilkins
Bouman, A, Weiss, M M, Jansen, S, Hankel, M A, Nieuwint, A W M, Adriaanse, B M E, van de Kamp, J M & Tan-Sindhunata, M B 2015, ' An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation ', Clinical Dysmorphology, vol. 24, no. 2, pp. 68-74 . https://doi.org/10.1097/MCD.0000000000000075
Clinical dysmorphology, 24(2), 68-74. Lippincott Williams and Wilkins
Bouman, A, Weiss, M M, Jansen, S, Hankel, M A, Nieuwint, A W M, Adriaanse, B M E, van de Kamp, J M & Tan-Sindhunata, M B 2015, ' An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation ', Clinical Dysmorphology, vol. 24, no. 2, pp. 68-74 . https://doi.org/10.1097/MCD.0000000000000075
Clinical dysmorphology, 24(2), 68-74. Lippincott Williams and Wilkins
Chromosomal abnormalities involving an interstitial or a terminal deletion of 3q26.33 and/or 3q27 have rarely been described. Here we report on a fetus of 22+1 weeks' gestational age with severe intrauterine growth restriction and multiple abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e78cac682ddb1829b463e1ee95d9035
https://research.vumc.nl/en/publications/1419a5ae-6c00-405a-af1d-0193da3dfdfd
https://research.vumc.nl/en/publications/1419a5ae-6c00-405a-af1d-0193da3dfdfd