Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1

Por DE RAVEL, T J L, MATTHIJS, G, HOLVOET, M, WOUTERS, C, LEGIUS, E, FRYNS, J
Publicado em 2000

Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature

Por Robyns, T, Nuyens, D, Van Casteren, L, Corveleyn, A, De Ravel, T, Heidbuchel, H, Willems, R
Publicado em 2014

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Por Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Publicado no Front Genet (2018)

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional character...

Por Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride
Publicado em 2014

Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy

Por Rossenbacker, T, Schollen, E, Kuiperi, C, de Ravel, T J L, Devriendt, K, Matthijs, G, Collen, D, Heidbuchel, H, Carmeliet, P
Publicado em 2005

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

Por Debeer, Philippe, Devriendt, Koen, De Smet, Luc, deRavel, Thomy, Gonzalez-Meneses, Antonio, Grzeschik, Karl-Heinz, Fryns, Jean-Pierre
Publicado em 2007

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Por Carles, S, Desgeorges, M, Goldman, A, Thiart, R, Guittard, C, Kitazos, C A, de Ravel, T J, Westwood, A T, Claustres, M, Ramsay, M
Publicado em 1996

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.

Por Gibson, R A, Ford, D, Jansen, S, Savoia, A, Havenga, C, Milner, R D, de Ravel, T J, Cohn, R J, Ball, S E, Roberts, I
Publicado em 1994

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Por Denayer, A., Van Esch, H., de Ravel, T., Frijns, J.-P., Van Buggenhout, G., Vogels, A., Devriendt, K., Geutjens, J., Thiry, P., Swillen, A.
Publicado em 2012

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Por Van Buggenhout, G, Melotte, C, Dutta, B, Froyen, G, Van Hummelen, P, Marynen, P, Matthijs, G, de Ravel, T, Devriendt, K, Fryns, J, Vermeesch, J
Publicado em 2004

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

Por Tipping, A. J., Pearson, T., Morgan, N. V., Gibson, R. A., Kuyt, L. P., Havenga, C., Gluckman, E., Joenje, H., de Ravel, T., Jansen, S., Mathew, C. G.
Publicado em 2001

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Por Franco, Luis M, de Ravel, Thomy, Graham, Brett H, Frenkel, Stephanie M, Van Driessche, Jozef, Stankiewicz, Pawel, Lupski, James R, Vermeesch, Joris R, Cheung, Sau Wai
Publicado em 2010

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Por Klopocki, Eva, Hennig, Bianca P., Dathe, Katarina, Koll, Randi, de Ravel, Thomy, Baten, Emiel, Blom, Eveline, Gillerot, Yves, Weigel, Johannes F.W., Krüger, Gabriele, Hiort, Olaf, Seemann, Petra, Mundlos, Stefan
Publicado em 2010

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Por Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen
Publicado em 2013

Sclerocornea in a Patient with Van Den Ende–Gupta Syndrome Homozygous for a SCARF2 Microdeletion

Por Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, Ana Beatriz A.
Publicado no Am J Med Genet A (2014)

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

Por Destouni, Aspasia, Dimitriadou, Eftychia, Masset, Heleen, Debrock, Sophie, Melotte, Cindy, Van Den Bogaert, Kris, Zamani Esteki, Masoud, Ding, Jia, Voet, Thiery, Denayer, Ellen, de Ravel, Thomy, Legius, Eric, Meuleman, Christel, Peeraer, Karen, Vermeesch, Joris R
Publicado no Hum Reprod (2018)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Por Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere
Publicado em 2017-01-01

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Por Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P., De Baere, Elfride
Publicado no PLoS One (2017)

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Por Bayindir, Baran, Dehaspe, Luc, Brison, Nathalie, Brady, Paul, Ardui, Simon, Kammoun, Molka, Van der Veken, Lars, Lichtenbelt, Klaske, Van den Bogaert, Kris, Van Houdt, Jeroen, Peeters, Hilde, Van Esch, Hilde, de Ravel, Thomy, Legius, Eric, Devriendt, Koen, Vermeesch, Joris R
Publicado no Eur J Hum Genet (2015)

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of publ...

Por Menten, B, Maas, N, Thienpont, B, Buysse, K, Vandesompele, J, Melotte, C, de Ravel, T, Van Vooren, S, Balikova, I, Backx, L, Janssens, S, De Paepe, A, De Moor, B, Moreau, Y, Marynen, P, Fryns, J‐P, Mortier, G, Devriendt, K, Speleman, F, Vermeesch, J R
Publicado em 2006