Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis

Autor: Delchev T, Hadjidekova S, Bichev S, Veleva Ts, Boneva I, Avdjieva-Tzavella D

Publikováno v: Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 19-24 (2023)

Syndromic craniosynostosis (SC) is a genetically determined premature closure of one or more of the cranial sutures, which may result in severe dysmorphism, increased intracranial pressure along with many other clinical manifestations. The considerab

Externí odkaz: https://doaj.org/article/85e31b43de9b4a298f2cc93f6a92e769

NOTCH1- and CD117-Positive Stem Cells in Human Endometriosis and Adenomyosis Lesions.

Autor: Metodiev D; Department of Clinical Pathology, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria., Parvanov D; Department of Research, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria., Ruseva M; Department of Research, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria., Ganeva R; Department of Research, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria., Handzhiyska M; Department of Research, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria., Vidolova N; Department of Research, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria., Chavoushian A; Department of Gastroenterology, Acibadem City Clinic UMBAL Mladost, 1784 Sofia, Bulgaria., Hadjidekova S; Department of Medical Genetics, Medical University of Sofia, 1431 Sofia, Bulgaria., Stamenov G; Department of Obstetrics and Gynecology, Nadezhda Women's Health Hospital, 1373 Sofia, Bulgaria.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2024 Jul 30; Vol. 14 (15). Date of Electronic Publication: 2024 Jul 30.

Detecting EGFR mutations in patients with non-small cell lung cancer

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

Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay

Autor: Mihaylova M, Staneva R, Toncheva D, Pancheva M, Hadjidekova S

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

Prevalence and prognosis of PIK3CA mutations in Bulgarian patients with metastatic breast cancer receiving endocrine therapy in first-line setting.

Autor: Gencheva R; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Petrova M; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Kraleva P; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Hadjidekova S; Department of Medical Genetics, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria., Radanova M; Department of Biochemistry, Molecular Medicine and Nutrigenomics, Medical University of Varna, Varna, Bulgaria., Conev N; Clinic of Medical Oncology, University Hospital 'St. Marina', Varna, Bulgaria., Stoyanov D; Clinic of Medical Oncology, University Hospital 'St. Marina', Varna, Bulgaria., Arabadjiev J; Clinic of Medical Oncology, University Hospital Acibadem City Clinic Tokuda, Sofia, Bulgaria., Tazimova E; Clinic of Medical Oncology, University Hospital Acibadem City Clinic Tokuda, Sofia, Bulgaria., Bachurska S; Department of General and Clinicalpathology, University Specialised Hospital for Oncology, Sofia, Bulgaria., Eneva M; Department of Hospital Pharmacy 'Nadezhda', Sofia, Bulgaria., Tsvetkova M; Medical Affairs, Novartis Bulgaria, Sofia, Bulgaria., Zhbantov G; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Karanikolova T; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Manov D; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Ivanova A; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Taushanova-Hadjieva M; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria., Staneva R; Department of Medical Genetics, Medical Faculty, Medical University of Sofia, Sofia, Bulgaria., Dimitrova E; Department of Biochemistry, Molecular Medicine and Nutrigenomics, Medical University of Varna, Varna, Bulgaria., Donev I; Clinic of Medical Oncology, MHAT 'Nadezhda', Sofia, Bulgaria.

Publikováno v: Cancer reports (Hoboken, N.J.) [Cancer Rep (Hoboken)] 2023 Dec 26, pp. e1966. Date of Electronic Publication: 2023 Dec 26.