Global phylogenomic assessment of Leptoseris and Agaricia reveals substantial undescribed diversity at mesophotic depths
Gijsbers, J C, Englebert, N, Prata, K E, Pichon, M, Dinesen, Z, Brunner, R, Eyal, G, González-Zapata, F L, Kahng, S E, Latijnhouwers, K R W, Muir, P, Radice, V Z, Sánchez, J A, Vermeij, M J A, Hoegh-Guldberg, O, Jacobs, S J, Bongaerts, P
Published in BMC biology (26.06.2023)
Published in BMC biology (26.06.2023)
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Journal Article
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Knijnenburg, J, Oberstein, S A J Lesnik, Frei, K, Lucas, T, Gijsbers, A C J, Ruivenkamp, C A L, Tanke, H J, Szuhai, K
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
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Journal Article
Identification of copy number variants associated with BPES-like phenotypes
Gijsbers, Antoinet C. J., D’haene, Barbara, Hilhorst-Hofstee, Yvonne, Mannens, Marcel, Albrecht, Beate, Seidel, Joerg, Witt, David R., Maisenbacher, Melissa K., Loeys, Bart, van Essen, Ton, Bakker, Egbert, Hennekam, Raoul, Breuning, Martijn H., De Baere, Elfride, Ruivenkamp, Claudia A. L.
Published in Human genetics (01.12.2008)
Published in Human genetics (01.12.2008)
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Journal Article
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Santen, Gijs W E, Sun, Yu, Gijsbers, Antoinet C J, Carré, Aurore, Holvoet, Maureen, Haeringen, Arie van, Lesnik Oberstein, Saskia A J, Tomoda, Akemi, Mabe, Hiroyo, Polak, Michel, Devriendt, Koenraad, Ruivenkamp, Claudia A L, Bijlsma, Emilia K
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Journal Article
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family
Moghadasi, Setareh, van Haeringen, Arie, Langendonck, Lieke, Gijsbers, Antoinet C. J., Ruivenkamp, Claudia A. L.
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Journal Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
WENTZEL, Christian, RAJCAN-SEPAROVIC, Evica, PORTNOI, Marie-France, STATTIN, Eva-Lena, VINCENT-DELORME, Catherine, KANT, Sarina G, STEINRATHS, Michelle, MARLIN, Sandrine, GIURGEA, Irina, THURESSON, Ann-Charlotte, RUIVENKAMP, Claudia A. L, CHANTOT-BASTARAUD, Sandra, METAY, Corinne, ANDRIEUX, Joris, ANNEREN, Göran, GIJSBERS, Antoinet C. J, DRUART, Luc, HYON, Capucine
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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Journal Article
Copy number variants in patients with short stature
van Duyvenvoorde, Hermine A, Lui, Julian C, Kant, Sarina G, Oostdijk, Wilma, Gijsbers, Antoinet C J, Hoffer, Mariëtte J V, Karperien, Marcel, Walenkamp, Marie J E, Noordam, Cees, Voorhoeve, Paul G, Mericq, Verónica, Pereira, Alberto M, Claahsen-van de Grinten, Hedi L, van Gool, Sandy A, Breuning, Martijn H, Losekoot, Monique, Baron, Jeffrey, Ruivenkamp, Claudia A L, Wit, Jan M
Published in European journal of human genetics : EJHG (01.05.2014)
Published in European journal of human genetics : EJHG (01.05.2014)
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Journal Article
Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands
Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., Sikkema‐Raddatz, B., Srebniak, M. I., Kevie‐Kersemaekers, A. M. F., Zutven, L. J. C. M., Voorhoeve, E.
Published in Journal of intellectual disability research (01.05.2017)
Published in Journal of intellectual disability research (01.05.2017)
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Journal Article
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
van Bon, BWM, Hoischen, A, Hehir-Kwa, J, de Brouwer, APM, Ruivenkamp, C, Gijsbers, ACJ, Marcelis, CL, de Leeuw, N, Veltman, JA, Brunner, HG, de Vries, BBA
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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Journal Article
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances
Doornbos, Marianne, Sikkema-Raddatz, Birgit, Ruijvenkamp, Claudia A.L, Dijkhuizen, Trijnie, Bijlsma, Emilia K, Gijsbers, Antoinet C.J, Hilhorst-Hofstee, Yvonne, Hordijk, Roel, Verbruggen, Krijn T, Kerstjens-Frederikse, W.S. (Mieke), van Essen, Ton, Kok, Klaas, van Silfhout, Anneke T, Breuning, Martijn, van Ravenswaaij-Arts, Conny M.A
Published in European journal of medical genetics (01.03.2009)
Published in European journal of medical genetics (01.03.2009)
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Journal Article
Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge
Gijsbers, A.C.J., Schoumans, J., Ruivenkamp, C.A.L.
Published in Cytogenetic and genome research (01.12.2011)
Published in Cytogenetic and genome research (01.12.2011)
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Journal Article
A new diagnostic workflow for patients with mental retardation and or multiple congenital abnormalities: test arrays first
GIJSBERS, Antoinet Cj, LEW, Janet Yk, RUIVENKAMP, Claudia Al, BOSCH, Cathy Aj, SCHUURS-HOEIJMAKERS, Janneke Hm, VAN HAERINGEN, Arie, DEN HOLLANDER, Nicolette S, KANT, Sarina G, BIJLSMA, Emilia K, BREUNING, Martijn H, BAKKER, Egbert
Published in European journal of human genetics : EJHG (01.11.2009)
Published in European journal of human genetics : EJHG (01.11.2009)
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Journal Article
Copy Number Variants in Short Children Born Small for Gestational Age
Wit, Jan M., van Duyvenvoorde, Hermine A., van Klinken, Jan B., Caliebe, Janina, Bosch, Cathy A.J., Lui, Julian C., Gijsbers, Antoinet C.J., Bakker, Egbert, Breuning, Martijn H., Oostdijk, Wilma, Losekoot, Monique, Baron, Jeffrey, Binder, Gerhard, Ranke, Michael B., Ruivenkamp, Claudia A.L.
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Journal Article
Molecular Karyotyping: From Microscope to SNP Arrays
Gijsbers, Antoinet C.J., Ruivenkamp, Claudia A.L.
Published in Hormone research in paediatrics (01.01.2011)
Published in Hormone research in paediatrics (01.01.2011)
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Journal Article
Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity
Wit, J.M., van Duyvenvoorde, H.A., Scheltinga, S.A., de Bruin, S., Hafkenscheid, L., Kant, S.G., Ruivenkamp, C.A.L., Gijsbers, A.C.J., van Doorn, J., Feigerlova, E., Noordam, C., Walenkamp, M.J., Claahsen-van de Grinten, H., Stouthart, P., Bonapart, I.E., Pereira, A.M., Gosen, J., Delemarre-van de Waal, H.A., Hwa, V., Breuning, M.H., Domené, H.M., Oostdijk, W., Losekoot, M.
Published in Hormone research in paediatrics (01.01.2012)
Published in Hormone research in paediatrics (01.01.2012)
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Journal Article
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation
Bijlsma, E.K, Collins, A, Papa, F.T, Tejada, M.I, Wheeler, P, Peeters, E.A.J, Gijsbers, A.C.J, van de Kamp, J.M, Kriek, M, Losekoot, M, Broekma, A.J, Crolla, J.A, Pollazzon, M, Mucciolo, M, Katzaki, E, Disciglio, V, Ferreri, M.I, Marozza, A, Mencarelli, M.A, Castagnini, C, Dosa, L, Ariani, F, Mari, F, Canitano, R, Hayek, G, Botella, M.P, Gener, B, Mínguez, M, Renieri, A, Ruivenkamp, C.A.L
Published in European journal of medical genetics (01.06.2012)
Published in European journal of medical genetics (01.06.2012)
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Journal Article
Regional variation of Guillain-Barré syndrome
Doets, Alex Y, Verboon, Christine, van den Berg, Bianca, Harbo, Thomas, Cornblath, David R, Willison, Hugh J, Islam, Zhahirul, Attarian, Shahram, Barroso, Fabio A, Bateman, Kathleen, Benedetti, Luana, van den Bergh, Peter, Casasnovas, Carlos, Cavaletti, Guido, Chavada, Govindsinh, Claeys, Kristl G, Dardiotis, Efthimios, Davidson, Amy, van Doorn, Pieter A, Feasby, Tom E, Galassi, Giuliana, Gorson, Kenneth C, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Hughes, Richard A C, Illa, Isabel, Islam, Badrul, Kusunoki, Susumu, Kuwabara, Satoshi, Lehmann, Helmar C, Miller, James A L, Mohammad, Quazi Deen, Monges, Soledad, Nobile Orazio, Eduardo, Pardo, Julio, Pereon, Yann, Rinaldi, Simon, Querol, Luis, Reddel, Stephen W, Reisin, Ricardo C, Shahrizaila, Nortina, Sindrup, Soren H, Waqar, Waheed, Jacobs, Bart C
Published in Brain (London, England : 1878) (01.10.2018)
Published in Brain (London, England : 1878) (01.10.2018)
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Journal Article
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Fransen van de Putte, D. E., Frankhuizen, W. S., Vijfhuizen, L., Groenewegen, L., Tamminga, R. Y. J., Bouman, K., van Essen, A. J., Gijsbers, A. C. J., Ruivenkamp, C. A. L., Boon, E. M. J.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2015)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2015)
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Journal Article
Molecular and clinical characterization of patients with a ring chromosome 11
Hansson, Kerstin B.M, Gijsbers, Antoinet C.J, Oostdijk, Wilma, Rehbock, Jan J.B, de Snoo, Femke, Ruivenkamp, Claudia A.L, Kant, Sarina G
Published in European journal of medical genetics (01.12.2012)
Published in European journal of medical genetics (01.12.2012)
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Journal Article