Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tatana Marikova"'
Autor:
Zdenek Sedlacek, Drahuse Novotna, Zuzana Slamova, Zuzana Zemanova, Mana M. Mehrjouy, Tatana Marikova, Lusine Nazaryan-Petersen, Zdenka Vlckova, Miroslava Hancarova, Jana Drabova, Mads Bak, Niels Tommerup, Marketa Vlckova
Publikováno v:
Human mutation. 39(5)
Analyses at nucleotide resolution reveal unexpected complexity of seemingly simple and balanced chromosomal rearrangements. Chromothripsis is a rare complex aberration involving local shattering of one or more chromosomes and reassembly of the result
Autor:
Petra Hedvicakova, Marketa Vlckova, Zuzana Zmitkova, Miroslava Hancarova, Sarka Vejvalkova, Drahuse Novotna, Zdenka Vlckova, Jana Drabova, Zdenek Sedlacek, Tatana Marikova
Publikováno v:
New Biotechnology. 29:321-324
Developmental delay is often a predictor of mental retardation (MR) or autism, two relatively frequent developmental disorders severely affecting intellectual and social functioning. The causes of these conditions remain unknown in most patients. The
Autor:
Radka Jaklova, Radim Mazanec, Tomas Prochazka, Edvard Ehler, Zuzana Musova, Josef Kraus, Tatana Marikova, Zdenek Sedlacek, Jiri Vales, Petr Koukal, Anna Krepelova, Marketa Havlovicova
Publikováno v:
American Journal of Medical Genetics Part A. :1365-1374
Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3′ UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35–49 triplets are not disease-causing but show instability in interg
Autor:
B. Petrak, Zuzana Musova, Lenka Kinstova, Anna Krepelova, Sarka Bendova, Eva Rausova, Tatana Marikova
Publikováno v:
Journal of Molecular Neuroscience. 31:273-279
Neurofibromatosis type 1 (NF1) is one of the most common inherited human disorders, with an estimated incidence of 1 per 3500 births. In most cases, the disease is caused either by mutation in the NF1 gene, or by a particular or complete deletion of
Autor:
Peter O, Bauer, Vaclav, Matoska, Alena, Zumrova, Arpad, Boday, Hiroshi, Doi, Tatana, Marikova, Petr, Goetz
Publikováno v:
Journal of applied genetics. 46(3)
We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a
Publikováno v:
1982 American Control Conference.
This paper deals with two approaches to the syndrome recognition used in the genetic counselling. The first approach is based on the linear discriminant function, in the other one the decision tree is employed. The results of both the approaches are