Polyakov AV - Search Results

1

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Among authors: polyakov av. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.

2

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV. Mersiyanova IV, et al. Among authors: polyakov av. Hum Mutat. 2000;15(4):340-7. doi: 10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 10737979

3

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. Mersiyanova IV, et al. Among authors: polyakov av. Am J Hum Genet. 2000 Jul;67(1):37-46. doi: 10.1086/302962. Epub 2000 Jun 7. Am J Hum Genet. 2000. PMID: 10841809 Free PMC article.

4

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.

Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV. Ismailov SM, et al. Among authors: polyakov av. Eur J Hum Genet. 2001 Aug;9(8):646-50. doi: 10.1038/sj.ejhg.5200686. Eur J Hum Genet. 2001. PMID: 11528513

5

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV. Polyakov AV, et al. Clin Genet. 2001 Dec;60(6):476-8. doi: 10.1034/j.1399-0004.2001.600614.x. Clin Genet. 2001. PMID: 11846744 No abstract available.

6

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Evgrafov OV, et al. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2. Nat Genet. 2004. PMID: 15122254

7

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Fofanova OV, Evgrafov OV, Polyakov AV, Peterkova VA, Dedov II. Fofanova OV, et al. Among authors: polyakov av. Hormones (Athens). 2006 Oct-Dec;5(4):288-94. doi: 10.14310/horm.2002.11194. Hormones (Athens). 2006. PMID: 17178704 Free article.

8

Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.

Evgrafov OV, Polyakov AV, Dzenis IG, Baharev VA. Evgrafov OV, et al. Among authors: polyakov av. Hum Mutat. 1995;5(2):131-6. doi: 10.1002/humu.1380050206. Hum Mutat. 1995. PMID: 7749411

9

High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect.

Polyakov AV, Dzenis IG, Baharev VA, Evgrafov OV. Polyakov AV, et al. Hum Mutat. 1998;Suppl 1:S53-4. doi: 10.1002/humu.1380110118. Hum Mutat. 1998. PMID: 9452039 No abstract available.

10

A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.

Fofanova OV, Evgrafov OV, Polyakov AV, Poltaraus AB, Peterkova VA, Dedov II. Fofanova OV, et al. Among authors: polyakov av. J Clin Endocrinol Metab. 2003 Feb;88(2):820-6. doi: 10.1210/jc.2002-020269. J Clin Endocrinol Metab. 2003. PMID: 12574219

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