GNE myopathy in Roma patients homozygous for the p. I618T founder mutation

…, A Kaprelyan, L Angelova, V Mihaylova, S Bichev… - Neuromuscular …, 2015 - Elsevier
GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene,
encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-…

Novel Mutations in the DYNC 1 H 1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

…, I Litvinenko, E De Vriendt, S Bichev… - Human …, 2015 - Wiley Online Library
The heavy chain 1 of cytoplasmic dynein ( DYNC 1 H 1) is responsible for movement of the
motor complex along microtubules and recruitment of dynein components. Mutations in …

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c. 75G> A, p. Trp25X mutation

T Chamova, S Bichev, T Todorov, M Gospodinova… - Neuromuscular …, 2018 - Elsevier
Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type
2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and …

Epidermal growth factor receptor mutations in East European non-small cell lung cancer patients

SN Bichev, DM Marinova, YG Slavova, AS Savov - Cellular oncology, 2015 - Springer
Background Epidermal growth factor receptor (EGFR) gene mutations are recurrently observed
in non-small cell lung carcinomas (NSCLCs), and it has been found that they may serve …

[PDF][PDF] EGFR mutations in patients with non small-cell lung cancer in Bulgaria and treatment with gefitinib

D Damyanov, K Koynov, E Naseva, S Bichev - J buon, 2015 - jbuon.com
Purpose: To evaluate the EGFR mutations in non small cell lung cancer (NSCLC) patients
in Bulgaria, as well as to summarize the outcomes of patients with EGFR mutations, treated …

[HTML][HTML] Cognitive impairment and brain imaging characteristics of patients with congenital cataracts, facial dysmorphism, neuropathy syndrome

T Chamova, D Zlatareva, M Raycheva, S Bichev… - Behavioural …, 2015 - hindawi.com
Congenital cataracts, facial dysmorphism, neuropathy (CCFDN) syndrome is a complex
autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree …

[HTML][HTML] EGFR mutation status yield from bronchoalveolar lavage in patients with primary pulmonary adenocarcinoma compared to a venous blood sample and tissue …

…, E Mekov, D Valev, G Yankov, V Milanov, S Bichev… - PeerJ, 2021 - peerj.com
Background In recent years, there has been a revolution in the genomic profiling and
molecular typing of lung cancer. A key oncogene is the epidermal growth factor receptor (EGFR). …

Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC) Due to UFM1 Mutation in Roma Patients-Severe Early Encephalopathy with Stridor and …

…, S Markov, N Sapundzhiev, S Bichev… - CNS & Neurological …, 2023 - ingentaconnect.com
Background: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is
a neurodegenerative disease with neurodevelopmental delay, motor, and speech regression…

MiRNA signatures related to invasiveness and recurrence in patients with non-functioning pituitary neuroendocrine tumours-a pilot study in a single tertiary center

…, B Georgieva, A Hadzhiyanev, S Bichev… - Experimental and …, 2024 - thieme-connect.com
Purpose: The aim of this preliminary study was to analyze and identify differentially expressed
miRNAs in Bulgarian patients with non-functioning pituitary neuroendocrine tumors (…

[PDF][PDF] Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic behaviour

M Stoyanova, M Hachmeriyan, M Levkova, S Bichev… - Folia Medica, 2022 - foliamedica.bg
Introduction: Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form
of intellectual disability and the leading monogenic cause of autism. Aim: To present our …