Zobrazeno 1 - 10
of 2 024
pro vyhledávání: '"Peterlin B"'
Autor:
Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 5-10 (2024)
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective regis
Externí odkaz:
https://doaj.org/article/6c96e592e7ff4b3d998ebf6d0eaa66d8
Autor:
Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 93-100 (2023)
Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl
Externí odkaz:
https://doaj.org/article/625562bf626b47c18182937dd6ebe100
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 85-88 (2023)
Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodyspla
Externí odkaz:
https://doaj.org/article/cdd72d9999014fe88189ecc459fca314
Autor:
Rogac M, Neubauer D, Leonardis L, Pecaric N, Meznaric M, Maver A, Sperl W, Garavaglia BM, Lamantea E, Peterlin B
Publikováno v:
Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 5-14 (2022)
The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience. Neurological clinical examination, brain magnetic resonance imaging (MRI) and spectroscopy, muscle
Externí odkaz:
https://doaj.org/article/285c4e26ee0b411688311fb7e252d1ce
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 65-68 (2019)
Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of disorders. We describe a case of a girl with secondary microcephaly, associated with severe
Externí odkaz:
https://doaj.org/article/186768aefc7b48a78481e0de037c205a
Autor:
Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, Karadzov Orlic N, Egic A, Milovanovic Z
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 83-88 (2019)
Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentat
Externí odkaz:
https://doaj.org/article/51e501fe96b04cbf9e40a54ea9f1300f
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 11-20 (2019)
Tetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p th
Externí odkaz:
https://doaj.org/article/f3352c1eabeb4b33b9a7414d81d085c9
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 49-53 (2018)
We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included pr
Externí odkaz:
https://doaj.org/article/c737a6688e274114942f74ccf6ebe2c8
Autor:
Rogac M, Peterlin B
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 27-33 (2018)
Preterm birth is the leading cause of mortality in newborn infants and can lead to significant neonatal morbidities. Spontaneous preterm birth accounts for at least 50.0% of all preterm births. We argue that chronic maternal stress load, which is an
Externí odkaz:
https://doaj.org/article/f4a745643943453d8582970a659c32a5
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 5-12 (2018)
Depression is estimated to affect 350 million people worldwide. The World Mental Health Survey conducted in 17 countries found that, on average, about one in 20 people reported having an episode of depression in the previous year. Although depression
Externí odkaz:
https://doaj.org/article/d89bb5fe7fdb4eac91be96df72e01578