A5050687909- Hormonal and reproductive studies
- Neuroscience and Neuropharmacology Research
- Tumors and Oncological Cases
- Sexual Differentiation and Disorders
- Blood disorders and treatments
- Epilepsy research and treatment
- Erythrocyte Function and Pathophysiology
- Neonatal and fetal brain pathology
- Genetic Syndromes and Imprinting
- Testicular diseases and treatments
- Genetic and rare skin diseases.
- Fetal and Pediatric Neurological Disorders
- Immunodeficiency and Autoimmune Disorders
- Cancer-related molecular mechanisms research
- Genetics and Neurodevelopmental Disorders
Ministry of Health
2024
Istanbul University-Cerrahpaşa
2019
Abstract Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by and degeneration the cerebellum pons. We aimed to identify clinical, laboratory, imaging findings patients with diagnosed PCH confirmed genetic analysis. collected available clinical data, in our retrospective multicenter national study 64 Turkey. The analysis included whole-exome sequencing (WES), targeted next-generation (NGS), or single gene Sixty-four were 28 female (43.8%)...
The concept of 'developmental and epileptic encephalopathy (DEE)' recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental comorbidity may be attributable to both the underlying cause adverse effects uncontrolled activity. There is no direct genotype - phenotype correlation DEEs. This study aimed report genetic phenotypic differences patients DEE.Genetic evaluations were performed due epilepsy combined developmental delay, encephalopathy, motor deficits,...
Sotos sendromu aşırı büyüme sendromları arasında yer alır. İlk defa Juan tarafından 1964 yılında tanımlanmıştır. Görülme sıklığı 1:14.000 olarak bildirilmiştir. Hastalığın major bulguları: İlerlemiş kemik yaşının eşlik ettiği büyüme, öğrenme güçlüğü ve kendine özgü fasial dismorfizmdir. Vakaların çoğu sporadik olmakla birlikte otozomal dominant kalıtılan olgular da rapor edilmiştir. Hastalıkla ilişkilendirilen NSD1 geni 5. Kromozomun q35 bölgesine lokalize olmuştur. Tümör, hipermetropi,...
Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. Patients with BS have photosensitivity, telangiectatic facial erythema, and stunted growth. They usually mild microcephaly, distinctive features such as narrow, slender face, micrognathism, prominent nose. Kostmann disease (KD) subgroup of severe congenital neutropenias. The diagnosis neutropenia based on clinical symptoms, bone marrow findings, genetic mutation. Here, we report female patient triangular nasal prominence,...