A5036828777- Biochemical and Molecular Research
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Hereditary Neurological Disorders
- RNA Research and Splicing
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Folate and B Vitamins Research
- Renal and related cancers
- Gout, Hyperuricemia, Uric Acid
- Metabolism and Genetic Disorders
- Inflammasome and immune disorders
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
Diyarbakır Gazi Yaşargil Eğitim ve Araştırma Hastanesi
2024
Intergen (Turkey)
2024
Eskişehir Osmangazi University
2020-2022
S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding (AHCY) enzyme. This article reports a patient with presumed who was diagnosed whole exome sequencing due to compound heterozygosity novel p.T57I (c.170C>T) p.V217M (c.649G>A) gene. had diffuse edema, coagulopathy, central system abnormalities, hypotonia. She died in 3 months...
Abstract Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, selective limb abnormalities. Although the was described approximately four decades ago, only few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of unusual clinical aspects. These exhibited novel features that not previously associated syndrome, including renal hypoplasia/aplasia, cysts, cortical thinning,...
Abstract Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripheral neuropathies by causing distal muscle weakness, sensory impairment, hyporeflexia, skeletal deformities. Both sequence copy number variations (CNVs) over 80 genes have been described in CMT patients so far, FGD4 variants are among the uncommon causes disease. In this article, we present four siblings with early-onset CMT, who were found to carry novel homozygous deletion within gene...
NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 are associated with structural central nervous system abnormalities, specifically microlissencephaly microhydranencephaly. The root these different phenotypes remains unclear. Here, we report 20-year-old male patient referred to our clinics due severe microcephaly, developmental delay, spastic quadriplegia, dysmorphic...