[PDF][PDF] Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

…, D Aktas, M Alikasifoglu, E Tuncbilek, D Orhan… - The American Journal of …, 2010 - cell.com
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder
that results from defects in the synthesis, structure, or posttranslational modification of type I …

[PDF][PDF] Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

…, CA Sewry, L Feng, G Haliloglu, D Orhan… - The American Journal of …, 2013 - cell.com
Mutations in several known or putative glycosyltransferases cause glycosylation defects in α-dystroglycan
(α-DG), an integral component of the dystrophin glycoprotein complex. The …

[PDF][PDF] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

…, C Kiraly-Borri, G Haliloglu, B Talim, D Orhan… - The American Journal of …, 2013 - cell.com
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the
NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal …

Detection of ectopic gastric mucosa using 99mTc pertechnetate: review of the literature

PO Kiratli, T Aksoy, MF Bozkurt, D Orhan - Annals of nuclear medicine, 2009 - Springer
Technetium-99m ( 99m Tc) pertechnetate scintigraphy in a child with acute gastrointestinal
bleeding of unknown origin suggests ectopic gastric mucosa caused by Meckel’s …

Lipoblastoma in children: review of 12 cases

…, F Cahit Tanyel, M Haliloglu, D Orhan… - Pediatrics …, 2017 - Wiley Online Library
Background Lipoblastoma is a rare benign mesenchymal tumor of infancy and early childhood.
Symptoms vary depending on localization, and signs of compression of adjacent organs …

Diversity in serine/threonine protein kinase-4 deficiency and review of the literature

…, B Balcı-Hayta, A Ayhan, A Uner, D Orhan… - The Journal of Allergy …, 2021 - Elsevier
… Arzu Ayhan, Aysegul Uner, and Diclehan Orhan contributed to the pathologic evaluation of
patients. Kaan Boztug conducted the molecular genetic analysis of one of the patients. Rezan …

[HTML][HTML] Thymosin β4 and its degradation product, Ac-SDKP, are novel reparative factors in renal fibrosis

…, B Chun, SA Potthoff, N Kazi, TJ Brolin, D Orhan… - Kidney international, 2013 - Elsevier
Previously, we found thymosin β4 (Tβ4) is upregulated in glomerulosclerosis and required
for angiotensin II–induced expression of plasminogen activator inhibitor-1 (PAI-1) in …

Risk factors for progression in children and young adults with IgA nephropathy: an analysis of 261 cases from the VALIGA European cohort

…, C Giannakakis, M Soderberg, D Orhan… - Pediatric …, 2017 - Springer
Background There is a need for early identification of children with immunoglobulin A
nephropathy (IgAN) at risk of progression of kidney disease. Methods Data on 261 young patients […

Fulminant COVID-19-related myocarditis in an infant

S Kesici, HH Aykan, D Orhan… - European heart …, 2020 - academic.oup.com
A 2-year-old, otherwise healthy boy with a history of COVID-19-positive patient contact was
hospitalized with nausea, vomiting, and poor oral intake. Physical examination was normal. …

A retrospective analysis of children with Henoch–Schonlein purpura and re-evaluation of renal pathologies using Oxford classification

…, FK Eroğlu, T Güngör, N Arda, D Orhan… - Clinical and …, 2019 - Springer
Background Henoch–Schönlein purpura (HSP) is the most common vasculitis in childhood.
The long-term prognosis is variable and depends on renal involvement. The aims of this …