Caberg JH - Search Results

1

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

2

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.

3

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.

4

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

5

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Rostomyan L, Daly AF, Petrossians P, Nachev E, Lila AR, Lecoq AL, Lecumberri B, Trivellin G, Salvatori R, Moraitis AG, Holdaway I, Kranenburg-van Klaveren DJ, Chiara Zatelli M, Palacios N, Nozieres C, Zacharin M, Ebeling T, Ojaniemi M, Rozhinskaya L, Verrua E, Jaffrain-Rea ML, Filipponi S, Gusakova D, Pronin V, Bertherat J, Belaya Z, Ilovayskaya I, Sahnoun-Fathallah M, Sievers C, Stalla GK, Castermans E, Caberg JH, Sorkina E, Auriemma RS, Mittal S, Kareva M, Lysy PA, Emy P, De Menis E, Choong CS, Mantovani G, Bours V, De Herder W, Brue T, Barlier A, Neggers SJ, Zacharieva S, Chanson P, Shah NS, Stratakis CA, Naves LA, Beckers A. Rostomyan L, et al. Among authors: caberg jh. Endocr Relat Cancer. 2015 Oct;22(5):745-57. doi: 10.1530/ERC-15-0320. Epub 2015 Jul 17. Endocr Relat Cancer. 2015. PMID: 26187128 Free PMC article.

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

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

Daly AF, Yuan B, Fina F, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Rabl W, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Nanni-Metellus I, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Liu P, Ouafik L, Bours V, Lupski JR, Stratakis CA, Beckers A. Daly AF, et al. Among authors: caberg jh. Endocr Relat Cancer. 2016 Apr;23(4):221-33. doi: 10.1530/ERC-16-0082. Epub 2016 Mar 2. Endocr Relat Cancer. 2016. PMID: 26935837 Free PMC article.

8

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.

9

Newborn screening for SMA in Southern Belgium.

Boemer F, Caberg JH, Dideberg V, Dardenne D, Bours V, Hiligsmann M, Dangouloff T, Servais L. Boemer F, et al. Among authors: caberg jh. Neuromuscul Disord. 2019 May;29(5):343-349. doi: 10.1016/j.nmd.2019.02.003. Epub 2019 Feb 15. Neuromuscul Disord. 2019. PMID: 31030938

10

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V. Uwineza A, et al. Among authors: caberg jh. Eur J Med Genet. 2019 Aug;62(8):103704. doi: 10.1016/j.ejmg.2019.103704. Epub 2019 Jun 14. Eur J Med Genet. 2019. PMID: 31207318 Free article.

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