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    Double outlet right ventricle with giant pulmonary artery aneurysm and severe aortic coarctation: diagnosis with multislice CT
    (Turkish J Pediatrics, 2009) Hasanefendioglu-Bayrak, Aylin; Ozturkmen-Akay, Hatice; Kervancioglu, Mehmet; Akgul-Ozmen, Cihan; Senturk, Senem; Nazaroglu, Hasan
    Complex cardiovascular pathologies in the pediatric population are usually evaluated with echocardiography and catheter angiography as initial and advanced imaging of choice, respectively. Echocardiography may pose some difficulties in the diagnosis of complex cardiovascular pathologies. Due to short acquisition times, detailed imaging by the use of post-processing techniques, reduced radiation exposure compared to catheter angiography, and additional information obtained on lung parenchyma, multi-slice computed tomography (CT) is the advanced imaging method of choice in selected cases. The present report describes a 14-year-old symptomatic case with complex cardiovascular pathology, whose vascular architecture could be properly demonstrated by multi-slice CT.
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    Evidence for genotype-phenotype correlation for OTOF mutations
    (Elsevier Ireland Ltd, 2014) Yildirim-Baylan, Muzeyyen; Bademci, Guney; Duman, Duygu; Ozturkmen-Akay, Hatice; Tokgoz-Yilmaz, Suna; Tekin, Mustafa
    Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
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    Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
    (Elsevier Ireland Ltd, 2009) Sirmaci, Asli; Duman, Duygu; Ozturkmen-Akay, Hatice; Erbek, Seyra; Incesulu, Armagan; Ozturk-Hismi, Burcu; Arici, Z. Serap
    Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family. Mutation analysis was performed in families showing co-segregation Of autosomal recessive SNHL with haplotypes at the DFNB7/11 locus. A total of six different mutations in seven families were identified, including novel missense alterations, p.G444R (c.1330G > A), p.R445C (c.1333C > T), and p.1677T (c.2030T > C), one novel splice site mutation IVS6+2 T > A (c.64+2T > A), and a novel large deletion ofapproximately 31 kb at the 3' region of the gene including exons 19-24, as well as a previously reported nonsense mutation, p.R34X (c.100C > T). All identified Mutations co-segregated with autosomal recessive SNHL in all families and were not found in Turkish hearing controls. These results expand the mutation spectrum of TMC1 with five novel mutations and provide data for the significant contribution of TMC1 mutations in hearing loss. (c) 2009 Elsevier Ireland Ltd. All rights reserved.