A5012109384- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Chromatin Remodeling and Cancer
- Sarcoma Diagnosis and Treatment
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Williams Syndrome Research
- Bone health and treatments
- Prenatal Screening and Diagnostics
- Cell Adhesion Molecules Research
- CRISPR and Genetic Engineering
- Cancer-related gene regulation
- Vascular Malformations and Hemangiomas
- Congenital limb and hand anomalies
- Epigenetics and DNA Methylation
- Neurofibromatosis and Schwannoma Cases
- Congenital heart defects research
- Hedgehog Signaling Pathway Studies
- Genetic Syndromes and Imprinting
- Soft tissue tumor case studies
Istanbul University-Cerrahpaşa
2021-2023
Istanbul University
2022
The Beckwith-Wiedemann spectrum (BWSp) ranges from isolated lateralized overgrowth (ILO) to classic phenotypes. In this broad clinical spectrum, an epigenetic alteration on chromosome 11p15.5 can be detected. risk for embryonal tumors is high, especially in patients with (LO). aim of study investigate alterations and tumor 87 children LO. methylation level was examined the blood all skin samples or buccal swabs 40 negative tests; 63.2% were compatible ILO phenotype, 18.4% atypical, classic....
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders characterised by susceptibility to fractures, primarily due defects in type 1 collagen. The aim this study present novel OI phenotype and its causative candidate gene.Whole-exome sequencing clinical evaluation were performed five patients from two unrelated families. PHLDB1 mRNA expression blood fibroblasts was investigated real-time PCR, western blot analysis further on skin fibroblasts.The common findings among...
Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability (ID) caused mutation in KMT2D (56%-76%) or KDM6A (5%-8%). Thirty-seven children aged 1-16 years who followed for median of 6.8 were included this study, which aimed to investigate the genetic clinical characteristics KS patients. evaluated sequencing multiplex-ligation-dependent probe amplification 32 Twenty-one pathogenic variants KMT2D, 17 truncated nine novel, one...
Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening the middle and distal segments limbs. Recently, biallelic PRKG2 variants have been reported to cause new type AMD. We detected novel variant (c.1635-1G > C) in two brothers with mild severe short stature, limbs, cubitus varus, brachydactyly. Radiological examination showed platyspondyly anterior beaking vertebral bodies, stubby long bones metaphyseal flaring moderate brachydactyly cone-shaped...
To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).We retrospectively investigated clinical molecular data of 138 NF1 patients from 129 families who had been followed-up for median 3.9 (1.25-18.5) years.NF1 sequencing revealed 73 different intragenic variants, 19 which were novel. Seven large deletions detected by multiplex ligation-dependent probe amplification (MLPA) analyses. The total detection rate pathogenic...
Williams syndrome is caused by a microdeletion at 7q11.23 and characterized distinctive face, cardiovascular disease, intellectual disability with specific cognitive behavioral profile. This study aims to evaluate the clinical features obtain important information that can guide early diagnoses correct follow-up.The included 78 patients whose were confirmed fluorescent in situ hybridization. Facial features, anthropometric measurements, neurocognitive, endocrine, urinary system evaluations...
Kasap, Busra; Guclu-Geyik, Filiz; Uludag Alkaya, Dilek; Cetin, Güven; Tuysuz, Beyhan Author Information