Evgrafov OV - Search Results

1

A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency.

Fofanova OV, Takamura N, Kinoshita E, Parks JS, Brown MR, Peterkova VA, Evgrafov OV, Goncharov NP, Bulatov AA, Dedov II, Yamashita S. Fofanova OV, et al. Among authors: evgrafov ov. Pituitary. 1998 Apr;1(1):45-9. doi: 10.1023/a:1009918924945. Pituitary. 1998. PMID: 11081182

2

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: evgrafov ov. J Clin Endocrinol Metab. 2003 Feb;88(2):820-6. doi: 10.1210/jc.2002-020269. J Clin Endocrinol Metab. 2003. PMID: 12574219

3

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: evgrafov ov. Hormones (Athens). 2006 Oct-Dec;5(4):288-94. doi: 10.14310/horm.2002.11194. Hormones (Athens). 2006. PMID: 17178704 Free article.

4

Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.

Fofanova OV, Takamura N, Kinoshita E, Yoshimoto M, Tsuji Y, Peterkova VA, Evgrafov OV, Dedov II, Goncharov NP, Yamashita S. Fofanova OV, et al. Among authors: evgrafov ov. Am J Med Genet. 1998 Jun 5;77(5):360-5. doi: 10.1002/(sici)1096-8628(19980605)77:5<360::aid-ajmg4>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9632165 Review.

5

Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.

Fofanova O, Takamura N, Kinoshita E, Parks JS, Brown MR, Peterkova VA, Evgrafov OV, Goncharov NP, Bulatov AA, Dedov II, Yamashita S. Fofanova O, et al. Among authors: evgrafov ov. J Clin Endocrinol Metab. 1998 Jul;83(7):2601-4. doi: 10.1210/jcem.83.7.5094. J Clin Endocrinol Metab. 1998. PMID: 9661653 Clinical Trial.

6

A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

Fofanova OV, Takamura N, Kinoshita E, Meerson EM, Iljina VK, Nechvolodova OL, Evgrafov OV, Peterkova VA, Yamashita S. Fofanova OV, et al. Among authors: evgrafov ov. Endocr J. 1998 Dec;45(6):791-5. doi: 10.1507/endocrj.45.791. Endocr J. 1998. PMID: 10395236 Free article.

7

GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children.

Fofanova OV, Evgrafov OV, Polyakov AV, Peterkova VA, Dedov II. Fofanova OV, et al. Among authors: evgrafov ov. Bull Exp Biol Med. 2006 Mar;141(3):347-52. doi: 10.1007/s10517-006-0168-2. Bull Exp Biol Med. 2006. PMID: 17073157

8

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.

Resnick IB, Kondratenko I, Pashanov E, Maschan AA, Karachunsky A, Togoev O, Timakov A, Polyakov A, Tverskaya S, Evgrafov O, Roumiantsev AG. Resnick IB, et al. Am J Med Genet A. 2003 Jul 15;120A(2):174-9. doi: 10.1002/ajmg.a.20188. Am J Med Genet A. 2003. PMID: 12833396

9

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA, Concannon P. Resnick IB, et al. J Pediatr. 2002 Mar;140(3):355-61. doi: 10.1067/mpd.2002.122724. J Pediatr. 2002. PMID: 11953735

10

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: evgrafov ov. 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.

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