Caberg JH - Search Results

1

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

Uwineza A, Caberg JH, Hitayezu J, Hellin AC, Jamar M, Dideberg V, Rusingiza EK, Bours V, Mutesa L. Uwineza A, et al. Among authors: caberg jh. BMC Med Genet. 2014 Jul 12;15:79. doi: 10.1186/1471-2350-15-79. BMC Med Genet. 2014. PMID: 25016475 Free PMC article.

2

Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.

Garraux G, Caberg JH, Vanbellinghen JF, Jamar M, Bours V, Moonen G, Dive D. Garraux G, et al. Among authors: caberg jh. Arch Neurol. 2012 Mar;69(3):398-400. doi: 10.1001/archneurol.2011.802. Arch Neurol. 2012. PMID: 22410449

3

Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.

Uwineza A, Hitayezu J, Murorunkwere S, Ndinkabandi J, Kalala Malu CK, Caberg JH, Dideberg V, Bours V, Mutesa L. Uwineza A, et al. Among authors: caberg jh. J Trop Pediatr. 2014 Apr;60(2):112-7. doi: 10.1093/tropej/fmt090. Epub 2013 Nov 7. J Trop Pediatr. 2014. PMID: 24213305

4

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

Teteli R, Uwineza A, Butera Y, Hitayezu J, Murorunkwere S, Umurerwa L, Ndinkabandi J, Hellin AC, Jamar M, Caberg JH, Muganga N, Mucumbitsi J, Rusingiza EK, Mutesa L. Teteli R, et al. Among authors: caberg jh. Pan Afr Med J. 2014 Sep 25;19:85. doi: 10.11604/pamj.2014.19.85.3428. eCollection 2014. Pan Afr Med J. 2014. PMID: 25722758 Free PMC article.

5

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

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R. Debray FG, et al. Among authors: caberg jh. J Inherit Metab Dis. 2015 Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14. J Inherit Metab Dis. 2015. PMID: 25971455

6

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

Uwineza A, Hitayezu J, Jamar M, Caberg JH, Murorunkwere S, Janvier N, Bours V, Mutesa L. Uwineza A, et al. Among authors: caberg jh. J Trop Pediatr. 2016 Feb;62(1):38-45. doi: 10.1093/tropej/fmv065. Epub 2015 Oct 27. J Trop Pediatr. 2016. PMID: 26507407 Free PMC article.

7

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

Mangupli R, Rostomyan L, Castermans E, Caberg JH, Camperos P, Krivoy J, Cuauro E, Bours V, Daly AF, Beckers A. Mangupli R, et al. Among authors: caberg jh. Pituitary. 2016 Oct;19(5):507-14. doi: 10.1007/s11102-016-0732-3. Pituitary. 2016. PMID: 27287035

8

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

Sticca T, Caberg JH, Wenric S, Poulet C, Herens C, Jamar M, Josse C, El Guendi S, Max S, Beguin Y, Gothot A, Caers J, Bours V. Sticca T, et al. Among authors: caberg jh. Genes Chromosomes Cancer. 2017 Jan;56(1):18-27. doi: 10.1002/gcc.22397. Epub 2016 Aug 18. Genes Chromosomes Cancer. 2017. PMID: 27454822 Free article.

9

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

Wenric S, Sticca T, Caberg JH, Josse C, Fasquelle C, Herens C, Jamar M, Max S, Gothot A, Caers J, Bours V. Wenric S, et al. Among authors: caberg jh. Genet Epidemiol. 2017 Jan;41(1):35-40. doi: 10.1002/gepi.22019. Epub 2016 Nov 10. Genet Epidemiol. 2017. PMID: 27862228 Free article.

10

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: caberg jh. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593

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