Works by Caberg, Jean-Hubert

Results: 18

Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample.

Published in:

Genetic Epidemiology, 2017, v. 41, n. 1, p. 35, doi. 10.1002/gepi.22019

By:

Wenric, Stephane;
Sticca, Tiberio;
Caberg, Jean‐Hubert;
Josse, Claire;
Fasquelle, Corinne;
Herens, Christian;
Jamar, Mauricette;
Max, Stéphanie;
Gothot, André;
Caers, Jo;
Bours, Vincent

Publication type:

Article

Haematological and molecular responses in refractory anaemia with ring sideroblasts and thrombocytosis treated with lenalidomide.

Published in:

European Journal of Haematology, 2014, v. 92, n. 2, p. 179, doi. 10.1111/ejh.12233

By:

Caers, Jo;
Hafraoui, Kaoutar;
Keutgens, Aurore;
Caberg, Jean‐Hubert;
Lambert, Frederic;
Tassin, Francoise;
Beguin, Yves

Publication type:

Article

Genetic Diagnosis of Duchenne and Becker Muscular Dystrophy using Multiplex Ligation-Dependent Probe Amplification in Rwandan Patients.

Published in:

Journal of Tropical Pediatrics, 2014, v. 60, n. 2, p. 112, doi. 10.1093/tropej/fmt090

By:

Uwineza, Annette;
Hitayezu, Janvier;
Murorunkwere, Seraphine;
Ndinkabandi, Janvier;
Kalala Malu, Celestin Kaputu;
Caberg, Jean Hubert;
Dideberg, Vinciane;
Bours, Vincent;
Mutesa, Leon

Publication type:

Article

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2253, doi. 10.3390/ijms23042253

By:

Boemer, François;
Josse, Claire;
Luis, Géraldine;
Di Valentin, Emmanuel;
Thiry, Jérôme;
Cello, Christophe;
Caberg, Jean-Hubert;
Dadoumont, Caroline;
Harvengt, Julie;
Lumaka, Aimé;
Bours, Vincent;
Debray, François-Guillaume

Publication type:

Article

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.

Published in:

Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01378-5

By:

Daly, Adrian F.;
Dunnington, Leslie A.;
Rodriguez-Buritica, David F.;
Spiegel, Erica;
Brancati, Francesco;
Mantovani, Giovanna;
Rawal, Vandana M.;
Faucz, Fabio Rueda;
Hijazi, Hadia;
Caberg, Jean-Hubert;
Nardone, Anna Maria;
Bengala, Mario;
Fortugno, Paola;
Del Sindaco, Giulia;
Ragonese, Marta;
Gould, Helen;
Cannavò, Salvatore;
Pétrossians, Patrick;
Lania, Andrea;
Lupski, James R.

Publication type:

Article

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 174, doi. 10.1186/s13023-014-0174-9

By:

Dorboz, Imen;
Coutelier, Marie;
Bertrand, Anne T;
Caberg, Jean-Hubert;
Elmaleh-Bergès, Monique;
Lainé, Jeanne;
Stevanin, Giovanni;
Bonne, Gisèle;
Boespflug-Tanguy, Odile;
Servais, Laurent

Publication type:

Article

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Published in:

2014

By:

Dorboz, Imen;
Coutelier, Marie;
Bertrand, Anne T;
Caberg, Jean-Hubert;
Elmaleh-Bergès, Monique;
Lainé, Jeanne;
Stevanin, Giovanni;
Bonne, Gisèle;
Boespflug-Tanguy, Odile;
Servais, Laurent

Publication type:

journal article

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1147, doi. 10.1007/s10545-015-9857-1

By:

Debray, François-Guillaume;
Stümpfig, Claudia;
Vanlander, Arnaud;
Dideberg, Vinciane;
Josse, Claire;
Caberg, Jean-Hubert;
Boemer, François;
Bours, Vincent;
Stevens, René;
Seneca, Sara;
Smet, Joél;
Lill, Roland;
Coster, Rudy

Publication type:

Article

Increased migration of Langerhans cells in response to HPV16 E6 and E7 oncogene silencing: role of CCL20.

Published in:

Cancer Immunology, Immunotherapy, 2009, v. 58, n. 1, p. 39, doi. 10.1007/s00262-008-0522-5

By:

Caberg, Jean-Hubert;
Hubert, Pascale;
Herman, Ludivine;
Herfs, Michael;
Roncarati, Patrick;
Boniver, Jacques;
Delvenne, Philippe

Publication type:

Article

MIP3 alpha stimulates the migration of Langerhans cells in models of human papillomavirus (HPV)-associated (pre)neoplastic epithelium.

Published in:

Cancer Immunology, Immunotherapy, 2007, v. 56, n. 7, p. 1087, doi. 10.1007/s00262-006-0255-2

By:

Herman, Ludivine;
Hubert, Pascale;
Caberg, Jean-Hubert;
Evrard, Brigitte;
Kedzia, Witold;
Boniver, Jacques;
Delvenne, Philippe

Publication type:

Article

Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

Published in:

2016

By:

Uwineza, Annette;
Hitayezu, Janvier;
Jamar, Mauricette;
Caberg, Jean-Hubert;
Murorunkwere, Seraphine;
Janvier, Ndinkabandi;
Bours, Vincent;
Mutesa, Leon

Publication type:

journal article

Defensins induce the recruitment of dendritic cells in cervical human papillomavirus-associated (pre)neoplastic lesions formed in vitro and transplanted in vivo.

Published in:

FASEB Journal, 2007, v. 21, n. 11, p. 2765, doi. 10.1096/fj.06-7646com

By:

Hubert, Pascale;
Herman, Ludivine;
Maillard, Catherine;
Caberg, Jean-Hubert;
Nikkels, Arjen;
Pierard, Gerald;
Foidart, Jean-Marie;
Noel, Agnès;
Boniver, Jacques;
Delvenne, Philippe

Publication type:

Article

Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity.

Published in:

Genes, Chromosomes & Cancer, 2017, v. 56, n. 1, p. 18, doi. 10.1002/gcc.22397

By:

Sticca, Tiberio;
Caberg, Jean‐Hubert;
Wenric, Stephane;
Poulet, Christophe;
Herens, Christian;
Jamar, Mauricette;
Josse, Claire;
El Guendi, Sonia;
Max, Stéphanie;
Beguin, Yves;
Gothot, André;
Caers, Jo;
Bours, Vincent

Publication type:

Article

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82725-z

By:

Beckers, Pablo;
Caberg, Jean-Hubert;
Dideberg, Vinciane;
Dangouloff, Tamara;
den Dunnen, Johan T.;
Bours, Vincent;
Servais, Laurent;
Boemer, François

Publication type:

Article

Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.

Published in:

Pituitary, 2016, v. 19, n. 5, p. 507, doi. 10.1007/s11102-016-0732-3

By:

Mangupli, Ruth;
Rostomyan, Liliya;
Castermans, Emilie;
Caberg, Jean-Hubert;
Camperos, Paul;
Krivoy, Jaime;
Cuauro, Elvia;
Bours, Vincent;
Daly, Adrian;
Beckers, Albert

Publication type:

Article

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99496-2

By:

Boemer, François;
Caberg, Jean-Hubert;
Beckers, Pablo;
Dideberg, Vinciane;
di Fiore, Samantha;
Bours, Vincent;
Marie, Sandrine;
Dewulf, Joseph;
Marcelis, Lionel;
Deconinck, Nicolas;
Daron, Aurore;
Blasco-Perez, Laura;
Tizzano, Eduardo;
Hiligsmann, Mickaël;
Lombet, Jacques;
Pereira, Tatiana;
Lopez-Granados, Lucia;
Shalchian-Tehran, Sarvnaz;
van Assche, Véronique;
Willems, Arabelle

Publication type:

Article

Pattern of congenital heart diseases in Rwandan children with genetic defects.

Published in:

Pan African Medical Journal, 2014, v. 19, p. 1, doi. 10.11604/pamj.2014.19.85.3428

By:

Teteli, Raissa;
Uwineza, Annette;
Butera, Yvan;
Hitayezu, Janvier;
Murorunkwere, Seraphine;
Umurerwa, Lamberte;
Ndinkabandi, Janvier;
Hellin, Anne-Cécile;
Jamar, Mauricette;
Caberg, Jean-Hubert;
Muganga, Narcisse;
Mucumbitsi, Joseph;
Rusingiza, Emmanuel Kamanzi;
Mutesa, Leon

Publication type:

Article

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-79

By:

Uwineza, Annette;
Caberg, Jean-Hubert;
Hitayezu, Janvier;
Hellin, Anne Cecile;
Jamar, Mauricette;
Dideberg, Vinciane;
Rusingiza, Emmanuel K.;
Bours, Vincent;
Mutesa, Leon

Publication type:

Article