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The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S. Germain DP, et al. Mol Genet Genomic Med. 2021 May;9(5):e1666. doi: 10.1002/mgg3.1666. Epub 2021 Apr 9. Mol Genet Genomic Med. 2021. PMID: 33835733 Free PMC article. Review.
[Pediatric aspects of Fabry's disease].
Roche O, Orssaud C, Germain D, Dufier JL. Roche O, et al. Arch Pediatr. 2007 Jul;14(7):909-14. doi: 10.1016/j.arcped.2007.02.090. Epub 2007 Apr 24. Arch Pediatr. 2007. PMID: 17459672 Review. French.
A validated disease severity scoring system for Fabry disease.
Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, Wanner C, Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A. Giannini EH, et al. Among authors: germain dp. Mol Genet Metab. 2010 Mar;99(3):283-90. doi: 10.1016/j.ymgme.2009.10.178. Epub 2009 Oct 30. Mol Genet Metab. 2010. PMID: 19951842
Fabry disease.
Germain DP. Germain DP. Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. Orphanet J Rare Dis. 2010. PMID: 21092187 Free PMC article. Review.
The pulvinar sign in Fabry patients: the first report in female patients.
Burlina AP, Politei J, Cinque S, Soliani A, Carlier RY, Germain DP, Manara R. Burlina AP, et al. Among authors: germain dp. J Neurol. 2012 Jun;259(6):1227-8. doi: 10.1007/s00415-011-6305-5. Epub 2011 Nov 18. J Neurol. 2012. PMID: 22095041 No abstract available.
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP. Ferreira S, et al. Among authors: germain dp. Mol Genet Metab. 2015 Feb;114(2):248-58. doi: 10.1016/j.ymgme.2014.11.004. Epub 2014 Nov 9. Mol Genet Metab. 2015. PMID: 25468652 Free PMC article.
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.
Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG. Ortiz A, et al. Among authors: germain dp. J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18. J Med Genet. 2016. PMID: 26993266 Free PMC article. Clinical Trial.
Determinants of white matter hyperintensity burden in patients with Fabry disease.
Rost NS, Cloonan L, Kanakis AS, Fitzpatrick KM, Azzariti DR, Clarke V, Lourenco CM, Germain DP, Politei JM, Homola GA, Sommer C, Üçeyler N, Sims KB. Rost NS, et al. Among authors: germain dp. Neurology. 2016 May 17;86(20):1880-6. doi: 10.1212/WNL.0000000000002673. Epub 2016 Apr 20. Neurology. 2016. PMID: 27164662 Free PMC article.
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A. Politei JM, et al. Among authors: germain dp. CNS Neurosci Ther. 2016 Jul;22(7):568-76. doi: 10.1111/cns.12542. Epub 2016 Mar 28. CNS Neurosci Ther. 2016. PMID: 27297686 Free PMC article.
295 results