Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Vera Horinova"'
Autor:
Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopme
Externí odkaz:
https://doaj.org/article/553c39dc21554bb8bf291f2161880eb2
Autor:
Marketa Safarikova, Jitka Stekrova, Eva Honsova, Vera Horinova, Vladimir Tesar, Jana Reiterova
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2
Externí odkaz:
https://doaj.org/article/6bb277a15084446294bb2e6f07cfd039
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Background Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2 encodes
Autor:
Vera Horinova, Jiri Rubes, Vendula Wernerova, Romana Skalikova, Miluse Vozdova, R. Rybar, Eva Oracova, Petra Prinosilova
Publikováno v:
American Journal of Medical Genetics Part A. 155:1157-1161
We present a family where five members (three males and two females) are carriers of der(4)t(Y;4)(q11.23;p16.3). The adult carriers are phenotypicaly normal and fertile; the boy shows macrocephaly, psychomotor retardation, and atypical autism. The FI
Publikováno v:
Human Reproduction. 23:581-588
BACKGROUND: Balanced translocations are associated with infertility, spontaneous abortions and birth defects. METHODS: We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromoso
Autor:
Jiri Rubes, Miluse Vozdova, Petra Prinosilova, Renata Gaillyová, Katerina Kasikova, Eva Oracova, Vera Horinova, R. Rybar
Publikováno v:
Journal of assisted reproduction and genetics. 30(3)
To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from
Autor:
Kateřina Kašíková, Petra Prinosilova, R. Rybar, Miluse Vozdova, Eva Oracova, Vera Horinova, Jiri Rubes, Renata Gaillyová
Publikováno v:
Human reproduction (Oxford, England). 27(3)
The swim-up and hyaluronan (HA)-binding methods are used for the selection of good quality spermatozoa to improve pregnancy rates and embryo quality and to reduce the number of miscarriages after IVF. We evaluated whether the processing of sperm by t
Autor:
Vera Horinova, Dalibor Valík, Zdenek Pavelka, Lenka Zdražilová Dubská, Hana Ošlejšková, Dusica Babovic-Vuksanovic, Jaroslav Sterba
Publikováno v:
Journal of pediatric hematology/oncology. 30(9)
Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformat
Autor:
Jiri Dostal, Katerina Krizova, Radek Vodicka, Jana Brezinova, Radek Vrtel, Arvind Rup Singh, Vera Horinova, Jiri Santavy, Ales Sobek, Veronika Svacinova, Ivana Oborna, Ladislav Dušek
Publikováno v:
Scopus-Elsevier
The human TSPY (testis-specific protein, Y-linked) gene family (30-60 copies) is situated in the MSY (male-specific) region of the Y chromosome. Testis-specific expression indicates that the gene plays a role in spermatogenesis. Refined quantitative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3575cd88ee7968d26958e995b04f6e69
http://www.scopus.com/inward/record.url?eid=2-s2.0-34248631398&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-34248631398&partnerID=MN8TOARS
Publikováno v:
Human Reproduction; Mar2008, Vol. 23 Issue 3, p581-581, 1p