Zobrazeno 1 - 10
of 599
pro vyhledávání: '"Toncheva, D."'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 57-60 (2019)
Myelofibrosis (MF) is characterized by a presence of an extra fibrous tissue in the bone marrow and additional hematopoiesis. The somatic mutation in the Janus kinase 2 (JAK2) gene (V617F) occurs gradually and is detected in about 50.0% of myelofibro
Externí odkaz:
https://doaj.org/article/14dbd66e31384fd2ac81affcdcc2e55a
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 59-62 (2018)
Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmenta
Externí odkaz:
https://doaj.org/article/8ffd9bcc36134df3aaa9d0ec4acd02fb
Autor:
Hammoudeh ZA, Antonova O, Staneva R, Nikolova D, Kyuchukov Y, Penev A, Mintchev T, Koleva V, Hadjidekova S, Toncheva D
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 13-17 (2018)
Mutations in the receptor of the epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) are used as biomarkers for predicting the response of treatment with EGFR tyrosine kinase inhibitors (EGFR TKIs). Non-small cell lung cance
Externí odkaz:
https://doaj.org/article/0f5c633d6850459f8d1606936583b610
Publikováno v:
Balkan Journal of Medical Genetics, Vol 20, Iss 1, Pp 5-12 (2017)
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recentl
Externí odkaz:
https://doaj.org/article/1ff866bce6b043ab89b979e4c5af8a4a
Autor:
Karachanak-Yankova S, Dimova R, Nikolova D, Nesheva D, Koprinarova M, Maslyankov S, Tafradjiska R, Gateva P, Velizarova M, Hammoudeh Z, Stoynev N, Toncheva D, Tankova T, Dimova I
Publikováno v:
Balkan Journal of Medical Genetics, Vol 18, Iss 2, Pp 15-24 (2015)
Epigenetic changes, in particular DNA methylation processes, play a role in the pathogenesis and progression of type 2 diabetes mellitus (T2DM) linking genetic and environmental factors. To clarify this role, we have analyzed in patients with differe
Externí odkaz:
https://doaj.org/article/31f50a2081884bcaa30445127999a09a
Autor:
Nesheva, D. V., Karachanak-Yankova, S., Lari, M., Yordanov, Y., Galabov, A., Caramelli, D., Toncheva, D.
Publikováno v:
Human Biology, 2015 Jan . 87(1), 19-28.
Externí odkaz:
https://www.jstor.org/stable/10.13110/humanbiology.87.1.0019
Publikováno v:
Balkan Journal of Medical Genetics, Vol 17, Iss 2, Pp 15-23 (2014)
Schizophrenia is one of the major psychiatric disorders. It is a disorder of complex inheritance, involving both heritable and environmental factors. DNA methylation is an inheritable epigenetic modification that stably alters gene expression. We rea
Externí odkaz:
https://doaj.org/article/4e5469b7d4a9433e92c7e73b2b4630a4
Akademický článek
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Autor:
Avdjieva-Tzavella D., Mihailova S., Lukanov C., Naumova E., Simeonov E., Tincheva R., Toncheva D.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 47-53 (2012)
Autism is a neurodevelopmental disorder of unknown origin that manifests in early childhood. Autism spectrum disorders (ASDs) refer to a broader group of neurobiological conditions, pervasive developmental disorders. Despite several arguments for a s
Externí odkaz:
https://doaj.org/article/1dceca7eb2954b5990468e4ee9d79612
Publikováno v:
Balkan Journal of Medical Genetics, Vol 13, Iss 1, Pp 1-8 (2010)
Externí odkaz:
https://doaj.org/article/137af19b7984405cb02ccead54b9025f