Thomy de Ravel

Thomy de Ravel

UNVERIFIED PROFILE

Are you Thomy de Ravel?   Register this Author

Register author
Thomy de Ravel

Thomy de Ravel

Publications by authors named "Thomy de Ravel"

Are you Thomy de Ravel?   Register this Author

78Publications

2538Reads

7Profile Views

BCAP31-related syndrome: The first de novo report.

Eur J Med Genet 2019 Jul 19:103732. Epub 2019 Jul 19.

Centre for Medical Genetics, Reproduction and Genetics, University Hospital Brussels, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103732DOI Listing
July 2019

Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.

Eur J Paediatr Neurol 2017 Sep 26;21(5):745-753. Epub 2017 Apr 26.

Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.04.641DOI Listing
September 2017

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

Hum Reprod 2017 03;32(3):687-697

Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, O&N I Herestraat 49 - box 602, KU Leuven, 3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/dex011DOI Listing
March 2017

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.

Eur J Med Genet 2015 May 7;58(5):324-7. Epub 2015 Apr 7.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212150006
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2015.03.003DOI Listing
May 2015

Long-term effect of gene therapy on Leber's congenital amaurosis.

N Engl J Med 2015 May 4;372(20):1887-97. Epub 2015 May 4.

From the UCL (University College London) Institute of Ophthalmology (J.W.B.B., M.S.M., V.S., S.J.R., S.E.B., C.R., A.G., F.M.M., S.G.B., P.J.G., V.A.L., K.B., A.V., G.E.H., F.W.F., M.N., A.T.M., M.M., A.S., A.J.S., G.R., R.R.A.) and the Department of Civil, Environmental, and Geomatic Engineering (N.T.), UCL, and Moorfields Eye Hospital (J.W.B.B., M.S.M., V.S., S.J.R., A.G., K.B., G.H., A.M., M.M.), London, and the Department of Psychology, Durham University, Durham (M.N.) - all in the United Kingdom; the College of Veterinary Medicine, Michigan State University, East Lansing (F.M.M., S.M.P.-J.), and the Kellogg Eye Center, University of Michigan Medical School, Ann Arbor (K.L.F., D.A.T., R.R.A.); the Center for Human Genetics, KU Leuven (T.J.L.R.), and the Department of Ophthalmology, UZ Leuven, Campus Sint-Rafaël (I.C.) - both in Leuven, Belgium; Rotterdam Eye Hospital, Rotterdam, the Netherlands (S.Y., L.I.B.); and the Oregon Retinal Degeneration Center, Ophthalmic Genetics Service, Casey Eye Institute, Oregon Health and Science University, Portland (R.G.W.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1414221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497809PMC
May 2015

Presenting symptoms in adults with the 22q11 deletion syndrome.

Eur J Med Genet 2014 Mar 24;57(4):157-62. Epub 2014 Feb 24.

Center for Human Genetics, KU Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.02.008DOI Listing
March 2014

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

Eur J Hum Genet 2013 Dec 1;21(12):1349-55. Epub 2013 May 1.

1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831085PMC
December 2013

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):105-8. Epub 2012 Oct 5.

Department of Ophthalmology, University Hospitals of Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2012.726395DOI Listing
August 2013

Social phenotypes in genetic syndromes.

J Intellect Disabil Res 2012 Oct;56(10):919-21

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1365-2788.2012.01620.x
Publisher Site
http://dx.doi.org/10.1111/j.1365-2788.2012.01620.xDOI Listing
October 2012

Postmortem fetal imaging of a metabolic pluricystic kidney disease.

Fetal Diagn Ther 2011 13;30(4):317-8. Epub 2011 Oct 13.

Department of Radiology, University Hospitals Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000332155DOI Listing
May 2012

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

Am J Ophthalmol 2011 Jun 25;151(6):1087-1094.e45. Epub 2011 Feb 25.

Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2010.11.025DOI Listing
June 2011

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

J Med Genet 2011 Feb 10;48(2):98-104. Epub 2010 Nov 10.

Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2010.079491DOI Listing
February 2011

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.

Eur J Med Genet 2010 Sep-Oct;53(5):239-43. Epub 2010 Jun 23.

Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.06.006DOI Listing
January 2011

Deletion and point mutations of PTHLH cause brachydactyly type E.

Am J Hum Genet 2010 Mar 18;86(3):434-9. Epub 2010 Feb 18.

Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2010.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833367PMC
March 2010

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

Eur J Med Genet 2009 Mar-Jun;52(2-3):145-7. Epub 2009 Feb 21.

Centre for Human Genetics, UZ Leuven, Herestraat 49, 3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.02.002DOI Listing
September 2009

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

Eur J Med Genet 2009 Mar-Jun;52(2-3):120-2. Epub 2009 Jan 22.

University Hospitals of Leuven, Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.01.002DOI Listing
September 2009

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.

Am J Med Genet A 2009 Jun;149A(6):1315-6

Centre for Human Genetics, UZ Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32817DOI Listing
June 2009

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

Lancet Oncol 2009 May;10(5):508-15

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1470-2045(09)70033-6DOI Listing
May 2009

The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

Eur J Med Genet 2008 Sep-Oct;51(5):383-408. Epub 2008 May 23.

Paediatric Dentistry Department, Paris 7 University; AP-HP, Hôtel-Dieu, Garancière, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.05.003DOI Listing
November 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Eur J Hum Genet 2007 Oct 20;15(10):1094-7. Epub 2007 Jun 20.

Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201878DOI Listing
October 2007

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

Eur J Pediatr 2007 Jul 20;166(7):637-43. Epub 2007 Mar 20.

Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-007-0463-6DOI Listing
July 2007

Follow-up of adult males with chromosome 18p deletion.

Eur J Med Genet 2005 Apr-Jun;48(2):189-93. Epub 2005 Feb 17.

Center for Human Genetics, UZ Gasthuisberg, 49 Herestraat, 3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120500030
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2005.01.024DOI Listing
September 2005

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

Eur J Hum Genet 2005 Apr;13(4):503-5

Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5201325
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201325DOI Listing
April 2005

Post-zygotic origin of isochromosome 12p.

Prenat Diagn 2004 Dec;24(12):984-8

Centre for Human Genetics, UZ Gasthuisberg, Katholieke Universiteit Leuven, Herestraat 49, B-3000 Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.956DOI Listing
December 2004

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.

Heart Rhythm 2004 Nov;1(5):610-5

Center for Transgene Technology and Gene Therapy, Flanders Interuniversitary Institute for Biotechnology, KULeuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2004.07.001DOI Listing
November 2004