Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Õunap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A
Published in Journal of medical genetics (01.08.2009)
Published in Journal of medical genetics (01.08.2009)
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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
Balikova, I, Lehesjoki, A.E, de Ravel, T.J.L, Thienpont, B, Chandler, K.E, Clayton-Smith, J, Träskelin, A.L, Fryns, J.P, Vermeesch, J.R
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
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Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation
de Ravel, T.J.L., Balikova, I., Thienpont, B., Hannes, F., Maas, N., Fryns, J.-P., Devriendt, K., Vermeesch, J.R.
Published in Cytogenetic and genome research (01.11.2006)
Published in Cytogenetic and genome research (01.11.2006)
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Molecular karyotyping is important in determining the cause of behavioural phenotypes
De Ravel, T. J. L., Swillen, A., Willekens, D., Descheemaeker, M.-J., Govers, V., Borghgraef, M., Vermeesch, J. R., Fryns, J.-P.
Published in Journal of intellectual disability research (01.10.2008)
Published in Journal of intellectual disability research (01.10.2008)
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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis
Bainbridge, James W.B, Mehat, Manjit S, Sundaram, Venki, Robbie, Scott J, Barker, Susie E, Ripamonti, Caterina, Georgiadis, Anastasios, Mowat, Freya M, Beattie, Stuart G, Gardner, Peter J, Feathers, Kecia L, Luong, Vy A, Yzer, Suzanne, Balaggan, Kamaljit, Viswanathan, Ananth, de Ravel, Thomy J.L, Casteels, Ingele, Holder, Graham E, Tyler, Nick, Fitzke, Fred W, Weleber, Richard G, Nardini, Marko, Moore, Anthony T, Thompson, Debra A, Petersen-Jones, Simon M, Michaelides, Michel, van den Born, L. Ingeborgh, Stockman, Andrew, Smith, Alexander J, Rubin, Gary, Ali, Robin R
Published in The New England journal of medicine (14.05.2015)
Published in The New England journal of medicine (14.05.2015)
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Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65
Ripamonti, Caterina, Henning, G Bruce, Ali, Robin R, Bainbridge, James W, Robbie, Scott J, Sundaram, Venki, Luong, Vy A, van den Born, L Ingeborgh, Casteels, Ingele, de Ravel, Thomy J L, Moore, Anthony T, Stockman, Andrew
Published in Investigative ophthalmology & visual science (25.09.2014)
Published in Investigative ophthalmology & visual science (25.09.2014)
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De novo interstitial tandem duplication of chromosome 20p12.1p13
de Ravel, T.J.L., Vermeesch, J.R., Fryns, J.‐P.
Published in American journal of medical genetics. Part A (15.02.2003)
Published in American journal of medical genetics. Part A (15.02.2003)
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Familial adenomatous polyposis in two Black South African families
Grobbelaar, JJ, Wilken, E, De Ravel, TJL, Nicholson, DL, Kotze, MJ
Published in Clinical genetics (01.03.2002)
Published in Clinical genetics (01.03.2002)
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Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis
de Ravel, T. J. L., van der Griendt, M. C., Evan, P., Wright, C. A.
Published in Prenatal diagnosis (01.03.1999)
Published in Prenatal diagnosis (01.03.1999)
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Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy
Rossenbacker, T, Schollen, E, Kuipéri, C, de Ravel, T J L, Devriendt, K, Matthijs, G, Collen, D, Heidbüchel, H, Carmeliet, P
Published in Journal of medical genetics (01.05.2005)
Published in Journal of medical genetics (01.05.2005)
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Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects
Debeer, Ph, de Ravel, T J L, Devriendt, K, Fryns, J-P, Huysmans, C, Van de Ven, W J M
Published in American journal of medical genetics (01.09.2002)
Published in American journal of medical genetics (01.09.2002)
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Macrocephaly, mental retardation, dysmorphism, and spastic paraplegia
de Ravel, T.J.L., Van Driessche, J., Fryns, J.P.
Published in American journal of medical genetics. Part A (15.06.2004)
Published in American journal of medical genetics. Part A (15.06.2004)
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Journal Article
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor
de Ravel, T J, Legius, E, Brems, H, Van Hoestenberghe, R, Gillis, P H, Fryns, J P
Published in Clinical dysmorphology (01.10.2001)
Published in Clinical dysmorphology (01.10.2001)
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Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity
de Ravel, T J, Berkowitz, D E, Wagner, J M, Jenkins, T
Published in Clinical dysmorphology (01.01.1999)
Published in Clinical dysmorphology (01.01.1999)
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