Vanier MT - Search Results

1

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H. Mavridou I, et al. Among authors: vanier mt. Clin Genet. 2014 Jun;85(6):543-7. doi: 10.1111/cge.12200. Epub 2013 Jun 12. Clin Genet. 2014. PMID: 23701245

2

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG. Vanier MT, et al. Clin Genet. 1988 May;33(5):331-48. doi: 10.1111/j.1399-0004.1988.tb03460.x. Clin Genet. 1988. PMID: 3378364

3

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: vanier mt. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349

4

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

Millat G, Marçais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT. Millat G, et al. Among authors: vanier mt. Am J Hum Genet. 1999 Nov;65(5):1321-9. doi: 10.1086/302626. Am J Hum Genet. 1999. PMID: 10521297 Free PMC article.

5

Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group.

Christomanou H, Vanier MT, Santambrogio P, Arosio P, Kleijer WJ, Harzer K. Christomanou H, et al. Among authors: vanier mt. Mol Genet Metab. 2000 Jul;70(3):196-202. doi: 10.1006/mgme.2000.3004. Mol Genet Metab. 2000. PMID: 10924274

6

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Millat G, Marçais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT. Millat G, et al. Among authors: vanier mt. Am J Hum Genet. 2001 Jun;68(6):1373-85. doi: 10.1086/320606. Epub 2001 May 1. Am J Hum Genet. 2001. PMID: 11333381 Free PMC article.

7

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

Ribeiro I, Marcão A, Amaral O, Sá Miranda MC, Vanier MT, Millat G. Ribeiro I, et al. Among authors: vanier mt. Hum Genet. 2001 Jul;109(1):24-32. doi: 10.1007/s004390100531. Hum Genet. 2001. PMID: 11479732

8

Niemann-Pick disease type C.

Vanier MT, Millat G. Vanier MT, et al. Clin Genet. 2003 Oct;64(4):269-81. doi: 10.1034/j.1399-0004.2003.00147.x. Clin Genet. 2003. PMID: 12974729 Review.

9

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

Fernandez-Valero EM, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier MT, Pineda M, Coll MJ. Fernandez-Valero EM, et al. Among authors: vanier mt. Clin Genet. 2005 Sep;68(3):245-54. doi: 10.1111/j.1399-0004.2005.00490.x. Clin Genet. 2005. PMID: 16098014

10

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. Millat G, et al. Among authors: vanier mt. Mol Genet Metab. 2005 Sep-Oct;86(1-2):220-32. doi: 10.1016/j.ymgme.2005.07.007. Mol Genet Metab. 2005. PMID: 16126423

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