Search Results - "Yildirim, Selman"

A rare giant congenital left atrial appendage aneurysm in a 1‐day‐old newborn by Aydin Sahin, Derya, Vefa Yildirim, Selman, Ozkan, Murat

“…Congenital left atrial appendage aneurysm (LAAA) is a very rare condition and occurs as a result of congenital dysplasia of musculi pectinate. These patients…”
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A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature by Aypar, Ebru, Yildirim, M. Selman, Sert, Ahmet, Ciftci, Ilhan, Odabas, Dursun

“…Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly…”
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A rare case in literature: Isochromosome Xq in Klinefelter syndrome by Simsek, Levent, Zamani, Ayse Gul, Taskapu, Hakan Hakkı, Yildirim, Mahmut Selman

“…Background Klinefelter syndrome(KS), affecting 1 in 500–1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary…”
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Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene by Turan, Betül, Göktaş, Emine, Sönmez, F. Mujgan, Aydin, Halil Ibrahim, Aydogdu, Demet, Zamani, Ayse Gul, Yildirim, Mahmut Selman

“…Cerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that…”
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A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation by Okur Altindas, Betul, Zamani, Ayse Gul, Oflaz, Mehmet Burhan, Gunes, Muhammed, Yildirim, Mahmut Selman

“…Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in…”
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Evaluation of immunological abnormalities in patients with rare syndromes by Gul, Yahya, Kapaklı, Hasan, Aytekin, Selma Erol, Guner, Şukru Nail, Keles, Sevgi, Zamani, Ayşe Gül, Yıldırım, Mahmut Selman, Reisli, Ïsmail

“…Recurrent infections are important problems in syndromic patients. This study aimed to evaluate immunological abnormalities in patients who presented with…”
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Generalized aggressive periodontitis in a child with 92, XXYY / 46,XY mosaicism: report of a second case by Olgun-Erdemir, Ebru, Yildirim, M Selman, Karşiyaka, Meltem

“…The present case report describes the oral features of tetraploid/diploid mosaicism. An 11-year-old boy with severe periodontal destruction is presented in…”
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Case Report: Seizures in a Child Caused by a Large Venous Angioma by Gümüs, Ayten, Vefa Yildirim, Selman, Kizilkiliç, Osman, Cengiz, Nurcan, Cemil, Tuba

“…Cerebral venous angioma is a congenital anomaly of the medullary vein, the vessel that drains into the transparenchymal venous stem. This lesion is also…”
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Duplicate Mitral Valve in an Infant With Shone's Anomaly by Turkoz, Rıza, MD, Ayabakan, Canan, MD, Vuran, Can, MD, Omay, Oğuz, MD, Yildirim, Selman Vefa, MD, Tokel, N. Kurşad, MD

“…Duplication of mitral valve is a very rare anomaly. It is characterized by two independent mitral valve apparatuses (leaflets and annulus) and subvalvular…”
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Psychometric properties of Turkish Orthorexia Nervosa Inventory in a clinical adolescent sample by Turan, Bahadir, Yıldırım, Selman, Bilginer, Samiye Çilem, Akıncı, Mehmet Akif

“…Purpose Orthorexic tendencies are increasingly prevalent among children and adolescents. This study set out to investigate the reliability and validity of the…”
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Relationship between Glutathione S-transferase gene polymorphisms and clinical features of psoriasis: A case-control study in the Turkish population by Dursun, Hatice Gül, Dursun, Recep, Çınar Ayan, ilknur, Zamani, Ayşe Gül, Yıldırım, Mahmur Selman

“…Background and Design: In this study, we investigated whether Glutathione S-transferase Mu 1 (GSTM1) and Glutathione S-transferase Pi 1 (GSTP1) gene…”
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Congenital pulmonary venous stenosis combined with valvular aortic stenosis: a very rare case by Vefa Yildirim, Selman, Kervancioglu, Mehmet, Varan, Birgul, Tokel, Kursad

“…Congenital pulmonary venous stenosis is a rare condition leads to progressive pulmonary hypertension and heart failure. It may be isolated or associated with…”
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Assessment of left ventricular diastolic function by Doppler tissue imaging in children with end-stage renal disease by SAYGILI, Arda, VEFA YILDIRIM, Selman, CENGIZ, Nurcan, USLU, Yasemin, TOKEL, Kürsat, SAATCI, Ümit

“…To evaluate left ventricular (LV) diastolic function in children with end-stage renal disease (ESRD) using conventional pulsed-Doppler echocardiography and…”
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The XRCC1 and TP53 gene polymorphisms are associated with advanced-stage disease and early distant metastasis at diagnosis in non-small cell lung cancer by Karaağaç, Mustafa, Geredeli, Çağlayan, Yıldırım, Mahmut, Altınok, Tamer, Dede, İsa, İnal, Ali, Zamani, Ayşe, Kaya, Buğra, Demirkazık, Ahmet, Artaç, Mehmet

“…Background: Studies on single nucleotide polymorphisms (SNPs) in non-small cell lung cancer (NSCLC) suggest that DNA repair capacity may have prognostic…”
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Investigation of the relationship between ischemic stroke and endothelial nitric oxide synthase gene polymorphisms [G894T, intron 4 VNTR and T786C] by Anlıaçık, Süleyman Ömer, Tokgöz, Serhat, Zamani, Ayşe Gül, Yıldırım, Mahmut Selman, İyisoy, Mehmet Sinan

“…We aimed to investigate the associations between endothelial nitric oxide synthase(eNOS) gene polymorphisms [G894T (rs1799983)], intron 4 (27-bpTR) variable…”
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Exploring Methylphenidate-Induced Intraocular Pressure: A Cautionary Tale in Pediatric ADHD Management by Yıldırım, Selman, Özel, Mahya, Günay, Murat, Hoşoğlu, Esra, Turan, Bahadir

“…This case report explores the intricate relationship between methylphenidate (MTX) use and increased intraocular pressure (IOP) in a pediatric patient with a…”
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Electromyographic analysis of an ergonomic risk factor: overhead work by Kinali, Gulsah, Kara, Sadık, Yıldırım, Mustafa Selman

“…[Purpose] Repetitive upper extremity exercises result in overuse injuries. However, it is challenging to identify the specific causative movements. This study…”
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Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature by Yıldırım, Mahmut Selman, Arslan, Ahmet Burak, Zamani, Ayşe Gül

“…Interchromosomal effect is a controversial phenomenon postulating that during gametogenesis of translocation carriers, aside from the unbalanced segregation of…”
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome by Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. Selman, Bozkurt, Banu, Zamani, Ayse Gul, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.

“…GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it…”
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Examination of symptoms related to cognitive disengagement syndrome in a clinical cohort of school-aged children by Yildirim, Selman

“…Objective: At the intersection of child neuropsychiatry, a distinct focus emerges on the intricate interplay between neurodevelopmental conditions and…”
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