Ara
Toplam kayıt 19, listelenen: 11-19
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
(Wolters Kluwer Medknow Publications, 2022)
Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, ...
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
(Elsevier Masson s.r.l., 2022)
Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with ...
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia
(Wiley, 2022)
Background PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Observation ...
Chronic neutropenia in childhood: Laboratory and clinical features
(Springer India, 2022)
Objectives To describe the clinical characteristics of patients with chronic neutropenia. Methods Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, ...
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
(Wiley, 2022)
Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is ...
COVID-19 pozitif hastalarda SARS-CoV-2 varyantlarının prevalansı
(DOC Design and Informatics Co. Ltd., 2022)
Amaç: Dünya Sağlık Örgütü (DSÖ) tarafından alfa (B.1.1.7), beta (B.1.351), gamma (P.1), delta (B.1.617.2) ve omic - ron (B.1.1.529) endişe verici varyantlar (“variants of concern – VOCs”) olarak sınıflandırılmıştır. ...
Genetic and clinical profiling of mendelian susceptibility to mycobacterial disease patients; singlecenter experience
(Istanbul University, 2022)
Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The ...
Diagnostic value of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies and some candidate genes for autism: Experience of two centers
(Galenos Publishing House, 2022)
Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some ...
Preoperative screening for COVID-19: Results from a clinical diagnostic laboratory
(Istanbul University, 2022)
Objective: The study aimed to determine what proportion of Turkiye’s preoperative patient population has tested positive for COVID-19 and to ascertain whether the increasing or decreasing trend in the numbers of positive ...