Elif Yılmaz Güleç
A5043269529- Connective tissue disorders research
- Genetic and Kidney Cyst Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Protein Tyrosine Phosphatases
- Neurogenetic and Muscular Disorders Research
- Sexual Differentiation and Disorders
- Genomics and Rare Diseases
- Galectins and Cancer Biology
- Bone and Dental Protein Studies
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- RNA regulation and disease
- Congenital heart defects research
- Peptidase Inhibition and Analysis
- Cystic Fibrosis Research Advances
- Protease and Inhibitor Mechanisms
- Renal and related cancers
- Sperm and Testicular Function
- Kruppel-like factors research
- Cancer-related gene regulation
- Wnt/β-catenin signaling in development and cancer
Sağlık Bilimleri Üniversitesi
2018-2025
Ministry of Health
2021-2025
Istanbul Medeniyet University
2022-2024
İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi
2014-2023
University of Freiburg
2022
University Medical Center Freiburg
2022
Istanbul Eye Hospital
2022
Istanbul University
2006-2020
Fatih University
2020
Dysfunction of motile monocilia, altering the leftward flow at embryonic node essential for determination left-right body asymmetry, is a major cause laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple cilia airway and responsible destructive disease. Outer dynein arms (ODAs) ciliary beat generation, human respiratory contain different ODA heavy chains (HCs): panaxonemally distributed γ-HC DNAH5, proximally located...
Abstract De novo variants in DDX 3X account for 1–3% of unexplained intellectual disability ( ID ) cases and are amongst the most common causes especially females. Forty‐seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique variants, including 30 postnatal with complex clinical presentations developmental delay or , one fetus abnormal ultrasound findings. Rare novel phenotypes observed include respiratory problems, congenital...
Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% individuals with hypergonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, congenital disorders affecting development function, well syndromic nonsyndromic single gene suggesting POI represents complex trait. To characterize contribution known...
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations five individuals from four consanguineous families: 1) a homozygous nonsense mutation p.Arg242* males with 2) p.Gln203* one female recurrent infections additionally carrying DNAH5....
Reliable and rapid detection of severe acute respiratory syndrome coronavirus 2 in laboratory setting is critical to control the pandemic. We aimed an evaluated polymerase chain reaction (PCR) efficiency nasopharyngeal swabs stored viral transport medium (VTM) different temperatures. Ninety taken into VTM were analyzed at first hour, then divided two groups with similar numbers positive negative samples. Positive samples each group also subgrouped according Fam CT values as low (<25),...
Recently, de novo variants in an 18 nucleotide region the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted affect tens thousands individuals worldwide. non-protein-coding gene transcribed into U4 small nuclear RNA (snRNA) component major spliceosome. syndrome disrupt spliceosome function and alter 5' splice site selection. Here, we performed saturation genome editing (SGE) identify functional clinical impact across entire...
ABSTRACT Purpose The fetal liver plays a crucial role in growth, with the hepatic artery (HA) supplying 10% of its blood to liver. HA growth and pregnancy complications is underexplored. This study investigates Doppler gestational diabetes mellitus (GDM) relationship HbA1c, comparing results healthy pregnancies. Methods prospective case–control included 63 pregnant women (30 insulin‐treated GDM, 33 without GDM) between 32 36 weeks gestation (Figure 1). umbilical (UA), middle cerebral (MCA),...
<title>Abstract</title> Objective The aim of this study was to investigate the relationship between breastfeeding and precancerous cervical lesions. Materials Methods This prospective descriptive conducted at a tertiary training research hospital September 1, 2023, November 2023. A total 229 patients who attended gynecology outpatient clinic provided information regarding their experiences were included in study. Patients with abnormal cytology composed group (n = 98), whereas those normal...
Rapid and reliable detection of severe acute respiratory syndrome coronavirus 2 mutations are significant to control the contagion spread rate virus. We aimed evaluate N501Y mutation in randomly chosen positive patients with polymerase chain reaction (PCR). The evaluation analysis data a retrospective approach cases mutations, terms public health, will contribute literature on global pandemic that affects our society. Public health authorities take necessary precautions current situation....
Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial intrafamilial heterogeneity highlight complexity of underlying genetic pathogenesis these developmental anomalies. Family-based genomics by exome sequencing (ES) rare variant analyses combined whole-genome array-based comparative genomic hybridization were implemented...
Artemis, DNA ligase IV, protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, polydactyly. Firstly, she was thought Fanconi anemia spontaneous breaks were seen on chromosomal analysis. After that DEB test found to be normal excluded....
Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature and genital hypoplasia. A significant degree phenotypic variability seems to correlate with different genes/loci. Disturbances the non-canonical WNT-pathway have been identified as main cause syndrome. Biallelic variants in ROR2 an autosomal recessive form distinctive skeletal findings. Twenty-two patients clinical diagnosis were screened for using multiple molecular approaches. We...
Abstract In ATP 6V0A2 ‐related cutis laxa, the skin phenotype varies from a wrinkly to prominent laxa and typically associates with skeletal neurological manifestations. The remains incompletely characterized, especially in adult patients. Glycosylation defects reduced acidification of secretory vesicles contribute pathogenesis, but consequences at clinical level remain be determined. Moreover, morphology elastic fibres has not been studied nor its relation potential risks. We report on...
Cystic hygroma (CH) is a vascular-lymphatic malformation and can occur either as an isolated finding or part of syndrome. The incidence CH about 1:1000–1:6000 births. Ultrasonographic diagnosis usually obtained in the first trimester, lesion appear septated non-septated forms. Increased nuchal translucency have been associated with wide range structural genetic abnormalities. Most CHs are number chromosomal abnormalities especially Trisomy 21, 13, 18 Turner Besides, associations between...
In the field of rare diseases, progress in molecular diagnostics led to recognition that variants linked autosomal-dominant neurodegenerative diseases later onset can, context biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a disorder arising from TOR1A, gene heterozygous state associated with torsion dystonia-1 (DYT1 DYT-TOR1A), an early-onset dystonia...
A 45,X karyotype is one of the common chromosomal abnormalities characterized by short stature, lack development secondary sexual characteristics, webbed neck and cubitus valgus. This phenotype was described Turner in 1938 called syndrome (TS). About 40-60% patients with TS have a karyotype, rest either structurally abnormal X or Y chromosome mosaicism second cell line. Determination derivatives important for management these due to increased risk gonadoblastoma. Low level may be missed...