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M Plasilova

Explore the profile of M Plasilova including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 8
Citations 170
Followers 0
Related Specialties
Genetics
Ophthalmology
Oncology
Top 10 Co-Authors
V Ferak
A Gerinec
L Kadasi
K Heinimann
E Ferakova
A Wanner
M A S Moore
E Necas
Hj Mueller
K Y Chung
Published In
Cesk Slov Oftalmol
J Med Genet
Hum Hered
Leukemia
Eur J Hum Genet
Affiliations
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Recent Articles
1.
NUP98 dysregulation in myeloid leukemogenesis
Moore M, Chung K, Plasilova M, Schuringa J, Shieh J, Zhou P, et al.
Ann N Y Acad Sci . 2007 Apr; 1106:114-42. PMID: 17442773
Nucleoporin 98 (NUP98) is a component of the nuclear pore complex that facilitates mRNA export from the nucleus. It is mapped to 11p15.5 and is fused to a number of...
2.
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
Plasilova M, Chattopadhyay C, Pal P, Schaub N, Buechner S, Mueller H, et al.
J Med Genet . 2004 Aug; 41(8):609-14. PMID: 15286156
No abstract available.
3.
Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred
Plasilova M, Russell A, Wanner A, Wolf A, Dobbie Z, Muller H, et al.
Eur J Hum Genet . 2004 Jan; 12(5):365-71. PMID: 14735163
Familial adenomatous polyposis (FAP), an autosomal dominantly inherited colorectal cancer predisposition syndrome, displays considerable inter- and intrafamilial phenotypic heterogeneity, which represents a major problem in genetic counselling of APC mutation...
4.
TRAIL (Apo2L) suppresses growth of primary human leukemia and myelodysplasia progenitors
Plasilova M, Zivny J, Jelinek J, Neuwirtova R, cermak J, Necas E, et al.
Leukemia . 2002 Feb; 16(1):67-73. PMID: 11840265
Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL, APO2L) has been shown to induce apoptosis in a number of tumor cell lines as well as in some primary tumors whereas cells from...
5.
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V
J Med Genet . 1999 May; 36(4):290-4. PMID: 10227395
Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in Slovakia. Recently, we linked the...
6.
[2 clinico-genetic types of primary congenital glaucomas in Slovakia]
Gerinec A, Ferak V, Plasilova M
Cesk Slov Oftalmol . 1998 Nov; 54(5):289-93. PMID: 9818479
The authors present the results of a 20-year follow-up of a group of 125 patients with primary congenital glaucoma. Based on 10 fundamentally different indicators they provided evidence of two...
7.
[Molecular diagnosis of mutations responsible for recurrent and severe forms of primary congenital glaucoma]
Plasilova M, Gerinec A, Ferak V
Cesk Slov Oftalmol . 1998 Nov; 54(5):281-8. PMID: 9818478
A PCR-based test has been developed that makes it possible to detect a G to A substitution in the cytochrome P4501B1 gene. This mutation brings about a substitution of glutamic...
8.
Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia
Plasilova M, Ferakova E, Kadasi L, Polakova H, Gerinec A, Ott J, et al.
Hum Hered . 1998 Feb; 48(1):30-3. PMID: 9463798
The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at 1p36), respectively, on families of...