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Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP, Poenaru L. Germain DP, et al. Biochem Biophys Res Commun. 1999 Apr 21;257(3):708-13. doi: 10.1006/bbrc.1999.0310. Biochem Biophys Res Commun. 1999. PMID: 10208848
[Fabry disease in 2004].
Germain DP. Germain DP. Rev Prat. 2003 Dec 31;53(20):2215-20. Rev Prat. 2003. PMID: 15018073 Review. French.
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP. Germain DP. J Soc Biol. 2002;196(2):161-73. J Soc Biol. 2002. PMID: 12360745 Review. French.
Arterial remodelling in Fabry disease.
Boutouyrie P, Laurent S, Laloux B, Lidove O, Grunfeld JP, Germain DP. Boutouyrie P, et al. Among authors: germain dp. Acta Paediatr Suppl. 2002;91(439):62-6. doi: 10.1111/j.1651-2227.2002.tb03113.x. Acta Paediatr Suppl. 2002. PMID: 12572845
Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of Pseudoxanthoma elasticum patients: possible sequence correction?
Germain DP, Remones V, Perdu J, Jeunemaitre X. Germain DP, et al. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU24>3.0.CO;2-O. Hum Mutat. 2000. PMID: 11058917 No abstract available.
Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.
Germain DP, Perdu J, Remones V, Jeunemaitre X. Germain DP, et al. Biochem Biophys Res Commun. 2000 Aug 2;274(2):297-301. doi: 10.1006/bbrc.2000.3101. Biochem Biophys Res Commun. 2000. PMID: 10913334
[Gaucher disease: clinical, genetic and therapeutic aspects].
Germain DP. Germain DP. Pathol Biol (Paris). 2004 Jul;52(6):343-50. doi: 10.1016/j.patbio.2003.09.018. Pathol Biol (Paris). 2004. PMID: 15261378 Review. French.
Gaucher's disease: a paradigm for interventional genetics.
Germain DP. Germain DP. Clin Genet. 2004 Feb;65(2):77-86. doi: 10.1111/j.0009-9163.2004.00217.x. Clin Genet. 2004. PMID: 14984463 Review.
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.
Germain DP, Kaneski CR, Brady RO. Germain DP, et al. Mutat Res. 2001 Nov 1;483(1-2):89-94. doi: 10.1016/s0027-5107(01)00232-9. Mutat Res. 2001. PMID: 11600137
Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions.
Germain DP. Germain DP. Clin Genet. 2001 Jul;60(1):63-7. doi: 10.1034/j.1399-0004.2001.600110.x. Clin Genet. 2001. PMID: 11531972
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