A5101473315- Connective tissue disorders research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Bone health and treatments
- Metabolism and Genetic Disorders
- Craniofacial Disorders and Treatments
- Hedgehog Signaling Pathway Studies
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Congenital Heart Disease Studies
- Congenital limb and hand anomalies
- Genetic Syndromes and Imprinting
- Wnt/β-catenin signaling in development and cancer
- Renal function and acid-base balance
- Rabies epidemiology and control
- Veterinary Orthopedics and Neurology
- Bone and Dental Protein Studies
- Connective Tissue Growth Factor Research
- Human-Animal Interaction Studies
- Genetic and rare skin diseases.
- Fibroblast Growth Factor Research
- Mitochondrial Function and Pathology
- Congenital gastrointestinal and neural anomalies
- Congenital Anomalies and Fetal Surgery
Sağlık Bilimleri Üniversitesi
2018-2025
University of Health Science
2024
Bilkent University
2024
Ankara Bilkent City Hospital
2023
Çankaya University
2021
Ministry of Health
2018
Hacettepe University
2012-2013
Introduction: Beckwith-Wiedemann syndrome (BWS, MIM#130650) is an overgrowth characterized by macroglossia, omphalocele, macrosomia, and a predisposition to neoplasia. The etiology of BWS involves genetic epigenetic alterations in the 11p15 region genome. In this study, we investigated how International Consensus Clinical Scoring System (BWSICS) score can be used clinical molecular evaluations examined its contribution diagnostic processes. Methods: This retrospective study included patients...
ABSTRACT Hajdu–Cheney syndrome (HCS), caused by a heterozygous gain of function variant the NOTCH2 gene, is rare skeletal dysplasia. Although main presentation acro‐osteolysis, osteoporosis, and facial dysmorphism, having wide range clinical manifestations creates diagnostic difficulties. Here, 15‐year‐old male patient with HCS who had no complaints until this age except for two short bone fractures one vertebral collapse fracture due to fall was reported. The presented anomalies, skull...
Introduction: Nager acrofacial dysostosis (#154400) is a rare and mostly sporadic malformation syndrome characterized by craniofacial extremity findings. In the study, new case diagnosed in neonatal period will be presented. Case presentation: The intensive care unit consulted to our pediatrics genetic clinic for 2-week-old male patient, who was being followed up their unit, due his dysmorphic findings defects. physical examination, downward palpebral fissures, zygomatic bone hypoplasia,...
Skeletal dysplasias are quite a heterogeneous group of disorders, characterized by bone and cartilage abnormalities. Although each them is individually rare, collectively the birth incidence approximately 1 in 5000 live births. Due to clinical heterogeneity, patients with skeletal can apply different departments many complaints or even lethal perinatal period. The establishment precise diagnosis provide proper management patient, confirmed molecular prevent recurrence disorder next...
Linkeropathies are a group of rare multi-systemic genetic disorders primarily affecting the skeletal and cardiac systems due to defects in enzymes responsible for proteoglycan synthesis.
Floating-Harbor syndrome is a sporadic autosomal dominantly inherited malformation characterized by typical craniofacial findings, proportional short stature, significantly delayed bone age, expressive language, speech, and normal head circumference. It caused heterozygous mutations in the SNF2-associated CBP activator protein gene (SRCAP) located on chromosome 16. Here, we report 9 years 4 months old male patient who presented to pediatric genetics outpatient clinic with retardation early...
Weaver syndrome, rare syndromic cause of tall stature, presents with overgrowth, accelerated skeletal maturation, dysmorphic features, and camptodactly. Despite expanding knowledge widespread use genetic tests, differential diagnosis statue may be challenging, complicating follow-up. Here we describe a patient variant in EZH2, underlining presenting features natural course. Twenty-month-old girl consulted for stature was born at term (birthweight: 2,600 g [-0.8 SDS], birth length: 54 cm [2.4...
Thauvin-Robinet-Faivre syndrome (#617107) is a rare autosomal recessive overgrowth characterized by intellectual disability, facial dysmorphism, macrocephaly, and variable congenital malformations. It caused homozygous or compound heterozygous FIBP gene mutations. The located on the 11q13.1 region codes acidic fibroblast growth factor intracellular binding protein, which involved in (FGF) signaling pathway. FGF required for neurogenesis neuronal precursor proliferation. controls cell...
ABS TRACTTriple X syndrome (trisomy X) is a sex chromosomal anomaly caused by the presence of an extra chromosome.The patients with Triple have wide range phenotypic variability.Some individuals are only mildly affected or asymptomatic.Epicanthal folds, clinodactyly, tall stature and hypotonia most commom features.Patients also may seizures, genitourinary abnormalities premature ovarian failure.We report patient cleft palate.By describing this case, we want to draw attention association...
Abstract Objectives Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations NPR2 , which encodes a cartilage regulator C-type natriuretic peptide receptor B. impair growth. It rare dwarfism characterized shortening the middle and distal segments limbs with spondylar dysplasia. Methods We performed detailed clinical radiological evaluation sequence analysis for . Results Herein, we report nine patients from eight...
Objective: Organic acidemias are intoxication-type inborn errors of the metabolism with multiple organ involvement. Patients organic acidemia usually present in neonatal or infantile period high anion gap metabolic acidosis and hyperammonemia. The study investigates presence congenital heart defects secondary diseases patients acidemia. Material Methods: Included were 31 whom 14 diagnosed methylmalonic (MMA), 11 propionic six isovaleric cardiac findings all included evaluated. Results: Of...
Abstract Background Pediatric acute liver failure (PALF) with undetermined etiology is associated higher transplantation and lower spontaneous recovery (transplant‐free) rates. The diagnostic odyssey in PALF cases hinders appropriate management follow‐up after transplantation. Advances whole exome sequencing analysis have already been successful at identifying new genetic causes of PALF. Case Presentation We report a 17‐year‐old girl who underwent the age 7 months due to presented later...
Mikrosefali bir hastalık değildir, klinik bulgudur ve öğrenme güçlüğü ile sıklıkla ilişkili olan azalmış intrakranyal beyin hacmini tahmin etmemizi sağlar. İntrauterin nöronal gelişimdeki anormal süreç primer mikrosefaliye sebep olur. Sekonder mikrosefali doğumdan sonra gelişir beyaz cevher hastalıkları ilişkilidir. Mikrosefalinin altında yatan etyolojik sebepler kompleks veya multifaktöriyel olabilir. Bu sebepler, mitotik iplikcik yapısı, sentrozomal protein bozuk siliyer fonksiyon, DNA...
Bu yazıda intrauterin gelişme geriliği, dismorfik yüz bulguları ve konjenital kalp anomalisine sahip bir yenidoğanda tespit edilen kısmi trizomi 14 22 vakası tartışılmıştır. Canlı doğumlarda anomali görülme sıklığı %2-6 olup, bunların %60-80’inden genetik nedenlerin sorumlu olduğu düşünülmektedir. Kromozomal değişiklikler, anomalilerin %25-35’inde görülür. Resiprokal translokasyonlar, bu kromozomal yeniden düzenlemelerin en yaygın nedenidir. Yapılan incelemelerde hastanın tekrarlayan düşük...