Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Vida Čulić"'
Autor:
Oksana Yu Vasilyeva, Arkadiy B Maslennikov, Olga L Shestovskikh, S. A. Vasilyev, N.A. Skryabin, Robert Vulić, Lyudmila P. Nazarenko, Asia R Shorina, Maria E. Lopatkina, E. N. Tolmacheva, A. A. Kashevarova, Miroslava O Filippova, Tatyana A Gayner, Alexei A. Zarubin, R. R. Savchenko, Elena O. Belyaeva, Veniamin S. Fishman, I. N. Lebedev, Vida Čulić
Publikováno v:
Cytogenetic and Genome Research. 161:105-119
Most copy number variations (CNVs) in the human genome display incomplete penetrance with unknown underlying mechanisms. One such mechanism may be epigenetic modification, particularly DNA methylation. The IMMP2L gene is located in a critical region
Publikováno v:
J Pediatr Genet
Joubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532a2e6ab1112112a9b85bbba7ea7411
https://doi.org/10.1055/s-0040-1721826
https://doi.org/10.1055/s-0040-1721826
Autor:
Stanislav A, Vasilyev, Nikolay A, Skryabin, Anna A, Kashevarova, Ekaterina N, Tolmacheva, Renata R, Savchenko, Oksana Yu, Vasilyeva, Maria E, Lopatkina, Alexei A, Zarubin, Veniamin S, Fishman, Elena O, Belyaeva, Miroslava O, Filippova, Asia R, Shorina, Arkadiy B, Maslennikov, Olga L, Shestovskikh, Tatyana A, Gayner, Vida, Čulić, Robert, Vulić, Lyudmila P, Nazarenko, Igor N, Lebedev
Publikováno v:
Cytogenetic and genome research. 161(3-4)
Most copy number variations (CNVs) in the human genome display incomplete penetrance with unknown underlying mechanisms. One such mechanism may be epigenetic modification, particularly DNA methylation. The IMMP2L gene is located in a critical region
Autor:
Igor N. Lebedev, Robert Vulić, Maja Pivić, Jasminka Pavelić, Vida Čulić, Thomas Liehr, Ruzica Lasan-Trcić
Publikováno v:
Cytogenetic and Genome Research. 156:179-184
We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chro
Autor:
Silvana Miskovic, Vida Čulić, Damir Roje, Ivana Gunjaca, Robert Vulić, Jasminka Pavelić, Ruzica Lasan
Purpose: The purpose of this study was to document the cytogenetic data obtained from amniotic fluid analysis, as a part of prenatal diagnosing. Methods: 1 441 samples were analyzed by the standard cytogenetic method. Results: Indications for amnioce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e8e8cf1bf5002b0d6f33fb46ca1a1d
https://www.bib.irb.hr/974857
https://www.bib.irb.hr/974857
Autor:
Kazuhiro Ogata, Marko Šimunović, Sunčana Janković, Vida Čulić, Naomichi Matsumoto, Tomislav Đapić, Noriko Miyake, Davor Petrović, Masaaki Shiina
Publikováno v:
Human Genome Variation
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6481cfac326c135e4b26546b9c53b9
https://www.bib.irb.hr/1050630
https://www.bib.irb.hr/1050630
Autor:
Vida Čulić, Branka Polić, Silvana Mišković, Slavica Dragišić Ivulić, Vanda Žitko, Tatijana Šipalo, Jasminka Pavelić
Publikováno v:
Paediatria Croatica
Volume 60
Issue 1
Volume 60
Issue 1
Genetic syndromes caused by chromosomal aberrations involve a recognizable pattern of multiple congenital anomalies with increased neonatal and infant mortality, making care challenging for the family, primary care practitioners, and specialists. Abo
Autor:
Bojana Brajenović-Milić, Frédérique Béna, Ivana Babić Božović, Zorana Grubić, Dinko Pavlinić, Jasenka Wagner, Jadranka Vraneković, Sophie Dahoun, Vida Čulić
Publikováno v:
Genetic Testing and Molecular Biomarkers. 16:70-73
The aims of the present study were to assess (1) the parental origin of trisomy 21 and the stage in which nondisjunction occurs and (2) the relationship between altered genetic recombination and maternal age as risk factors for trisomy 21. The study
Publikováno v:
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
Summary Background: Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal ab-normality, followed by trisomy 21 and trisom
Autor:
Stipan Janković, Srdjana Culic, Višnja Armanda, Valdi Pesutić-Pisac, Vida Čulić, Dubravka Kuljiš
Publikováno v:
Pediatric Hematology and Oncology. 20:339-344
Intravenous therapy with the anti-CD20 antibody Rituximab has been recently approved for the treatment of CD20 positive non-Hodgkin's lymphoma (NHL) in adults but not in children. The authors present the benefits of its application for mediastinal NH