Kremensky I - Search Results

1

Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups.

Todorova A, Tournev I, Ninova N, Georgieva V, Kremensky I. Todorova A, et al. Among authors: kremensky i. Community Genet. 2002;5(4):217-21. doi: 10.1159/000066687. Community Genet. 2002. PMID: 14960875

2

C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community.

Georgieva B, Todorova A, Tournev I, Mitev V, Kremensky I. Georgieva B, et al. Among authors: kremensky i. Clin Genet. 2004 Nov;66(5):467-72. doi: 10.1111/j.1399-0004.2004.00335.x. Clin Genet. 2004. PMID: 15479193

3

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Todorova A, Georgieva B, Tournev I, Todorov T, Bogdanova N, Mitev V, Mueller CR, Kremensky I, Horst J. Todorova A, et al. Among authors: kremensky i. Neurogenetics. 2007 Aug;8(3):225-9. doi: 10.1007/s10048-007-0083-3. Epub 2007 Feb 23. Neurogenetics. 2007. PMID: 17318636

4

Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation.

Todorova A, Constantinova D, Kremensky I. Todorova A, et al. Among authors: kremensky i. Am J Med Genet A. 2003 Jul 1;120A(1):5-7. doi: 10.1002/ajmg.a.10264. Am J Med Genet A. 2003. PMID: 12794683

5

C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.

Todorova A, Ashikov A, Beltcheva O, Tournev I, Kremensky I. Todorova A, et al. Among authors: kremensky i. Hum Mutat. 1999;14(1):40-4. doi: 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R. Hum Mutat. 1999. PMID: 10447257

6

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V. Ivanova N, et al. Among authors: kremensky i. Clin Genet. 2006 Dec;70(6):490-5. doi: 10.1111/j.1399-0004.2006.00705.x. Clin Genet. 2006. PMID: 17100993

7

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.

Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Buzhov BT, et al. Among authors: kremensky i. Hum Genet. 2005 Mar;116(4):262-6. doi: 10.1007/s00439-004-1237-0. Epub 2005 Jan 12. Hum Genet. 2005. PMID: 15645183

8

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L. Mihaylova V, et al. Among authors: kremensky i. Brain. 2007 Apr;130(Pt 4):1050-61. doi: 10.1093/brain/awm026. Epub 2007 Mar 14. Brain. 2007. PMID: 17360762

9

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V. Todorova A, et al. Among authors: kremensky i. Neuromuscul Disord. 2008 Aug;18(8):667-70. doi: 10.1016/j.nmd.2008.06.369. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653336

10

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L. Ivanov IS, et al. Among authors: kremensky i. Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25087164 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

91 results

Search Page