Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Luca Lovrečić"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Pathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked Pe
Externí odkaz:
https://doaj.org/article/d9058c7c6fd04ed3b34adce21573c7bd
Autor:
Anja Kovanda, Luca Lovrečić, Gorazd Rudolf, Ivana Babic Bozovic, Helena Jaklič, Lea Leonardis, Borut Peterlin
Publikováno v:
Genes, Vol 14, Iss 12, p 2166 (2023)
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of the DUX4 gene.
Externí odkaz:
https://doaj.org/article/7291fe70f8ee4ad7b91db3aec861c61a
Autor:
Lara Slavec, Ksenija Geršak, Andreja Eberlinc, Tinka Hovnik, Luca Lovrečić, Irena Mlinarič-Raščan, Nataša Karas Kuželički
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4262 (2023)
Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft pal
Externí odkaz:
https://doaj.org/article/4f5fa5c43eda45a392d321c0dfcabc18
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Our aim was to conduct a comprehensive genetic evaluation using the combination of QF‐PCR (quantitative fluorescence polymerase chain reaction) and aCGH (array comparative genomic hybridization) for the detection of the frequenc
Externí odkaz:
https://doaj.org/article/e3a6ff8cfb87495b80de95342a049c9b
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background The implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy. However, the systematic epidem
Externí odkaz:
https://doaj.org/article/3aec645edef145649c497ca8e85b240f
Autor:
Polona Lavtar, Gorazd Rudolf, Aleš Maver, Alenka Hodžić, Nada Starčević Čizmarević, Maja Živković, Saša Šega Jazbec, Zalika Klemenc Ketiš, Miljenko Kapović, Evica Dinčić, Ranko Raičević, Juraj Sepčić, Luca Lovrečić, Aleksandra Stanković, Smiljana Ristić, Borut Peterlin
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0190601 (2018)
Prevalence of multiple sclerosis varies with geographic latitude. We hypothesized that this fact might be partially associated with the influence of latitude on circadian rhythm and consequently that genetic variability of key circadian rhythm regula
Externí odkaz:
https://doaj.org/article/140d9813c2514d76bf87cca171b73809
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0136473 (2015)
Specific gene expression in oocytes and its surrounding cumulus (CC) and granulosa (GC) cells is needed for successful folliculogenesis and oocyte maturation. The aim of the present study was to compare genome-wide gene expression and biological func
Externí odkaz:
https://doaj.org/article/28935dfdeb9c46fa9720d15f8e7da4f6
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74184 (2013)
A universal biomarker panel with the potential to predict high-risk pregnancies or adverse pregnancy outcome does not exist. Transcriptome analysis is a powerful tool to capture differentially expressed genes (DEG), which can be used as biomarker-dia
Externí odkaz:
https://doaj.org/article/d59ba7253ed8488e820d36ff84e58be1
Autor:
Luca Lovrečić, M Avbelj Stefanija, Tine Tesovnik, Klemen Dovc, Lana Stavber, Tinka Hovnik, Jernej Kovač, Tadej Battelino, Sara Bertok, Primož Kotnik, Maruša Debeljak
Publikováno v:
European Journal of Endocrinology
Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center cohort study
Autor:
Jadranka, Vraneković, Luca, Lovrečić, Nuša, Trošt, Tea, Barišić Anita2,Štimac, Nada, Starčević Čizmarević, Tea, Mladenić, Laura, Negrić, Saša, Ostojić, Ivana, Babić Božović, Borut, Peterlin
Publikováno v:
Genetics & Applications; 2024 Special Issue, p17-17, 1p