Millat G - Search Results

1

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.

Ader F, Jedraszak G, Janin A, Billon C, Buisson NR, Bloch A, Bensalah M, De Sandre-Giovannoli A, Goudal A, Marsili L, Cazeneuve C, Charron P, Millat G, Richard P; Cardiogen French Network of Molecular Biologists. Ader F, et al. Among authors: millat g. Clin Genet. 2024 Jun;105(6):676-682. doi: 10.1111/cge.14505. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356193

2

IDS transfer from overexpressing cells to IDS-deficient cells.

Millat G, Froissart R, Maire I, Bozon D. Millat G, et al. Exp Cell Res. 1997 Feb 1;230(2):362-7. doi: 10.1006/excr.1996.3435. Exp Cell Res. 1997. PMID: 9024795

3

Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.

Tylki-Szymańska A, Millat G, Maire I, Czartoryska B. Tylki-Szymańska A, et al. Among authors: millat g. Eur J Hum Genet. 1996;4(6):334-7. doi: 10.1159/000472228. Eur J Hum Genet. 1996. PMID: 9043866

4

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.

Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: millat g. J Med Genet. 2000 Sep;37(9):707-12. doi: 10.1136/jmg.37.9.707. J Med Genet. 2000. PMID: 11182931 Free PMC article. No abstract available.

5

Structure and function of the NPC2 protein.

Vanier MT, Millat G. Vanier MT, et al. Among authors: millat g. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):14-21. doi: 10.1016/j.bbalip.2004.08.007. Biochim Biophys Acta. 2004. PMID: 15465422 Review.

6

Niemann-Pick type C disease in a 68-year-old patient.

Trendelenburg G, Vanier MT, Maza S, Millat G, Bohner G, Munz DL, Zschenderlein R. Trendelenburg G, et al. Among authors: millat g. J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):997-8. doi: 10.1136/jnnp.2005.086785. J Neurol Neurosurg Psychiatry. 2006. PMID: 16844962 Free PMC article. No abstract available.

7

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Froissart R, Maire I, Millat G, Cudry S, Birot AM, Bonnet V, Bouton O, Bozon D. Froissart R, et al. Among authors: millat g. Clin Genet. 1998 May;53(5):362-8. doi: 10.1111/j.1399-0004.1998.tb02746.x. Clin Genet. 1998. PMID: 9660053

8

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Millat G, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624503

9

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R. Millat G, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5. doi: 10.1016/j.ejmg.2011.07.005. Epub 2011 Aug 4. Eur J Med Genet. 2011. PMID: 21846512

10

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.

Chanavat V, Seronde MF, Bouvagnet P, Chevalier P, Rousson R, Millat G. Chanavat V, et al. Among authors: millat g. Eur J Med Genet. 2012 Mar;55(3):163-6. doi: 10.1016/j.ejmg.2012.01.002. Epub 2012 Jan 21. Eur J Med Genet. 2012. PMID: 22314326

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