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Clinical utility gene card for: biotinidase deficiency.
Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: ramaekers v. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.
Clinical utility gene card for: Biotinidase deficiency-update 2015.
Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: ramaekers v. Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.246. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577040 Free PMC article. Review. No abstract available.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium; Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R. Boycott KM, et al. Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. Am J Hum Genet. 2015. PMID: 26637978 Free PMC article.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: ramaekers v. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
Delayed-onset profound biotinidase deficiency.
Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, Ramaekers VT, Coskun T, Tokatli A, Ozalp I, Hymes J. Wolf B, et al. Among authors: ramaekers vt. J Pediatr. 1998 Feb;132(2):362-5. doi: 10.1016/s0022-3476(98)70464-0. J Pediatr. 1998. PMID: 9506660
[Juvenile optic neuropathy caused by Km variants of biotinidase].
Brab M, Ramaekers VT, Baumgartner ER, Heimann G, Reim M. Brab M, et al. Among authors: ramaekers vt. Klin Monbl Augenheilkd. 1992 Mar;200(3):204-9. doi: 10.1055/s-2008-1045738. Klin Monbl Augenheilkd. 1992. PMID: 1315891 German.
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.
Adamsen D, Ramaekers V, Ho HT, Britschgi C, Rüfenacht V, Meili D, Bobrowski E, Philippe P, Nava C, Van Maldergem L, Bruggmann R, Walitza S, Wang J, Grünblatt E, Thöny B. Adamsen D, et al. Among authors: ramaekers v. Mol Autism. 2014 Aug 13;5:43. doi: 10.1186/2040-2392-5-43. eCollection 2014. Mol Autism. 2014. PMID: 25802735 Free PMC article.
88 results