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Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
It is found that the development of the inner ear is completely disturbed at a very early stage--or the otic vesicle is not induced at all--in all of the affected individuals who carried two mutant FGF3 alleles. Expand
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
The mutation spectrum of TMC1 is expanded with five novel mutations and data for the significant contribution of T MC1 mutations in hearing loss is provided. Expand
Bilateral maxillary dentigerous cysts: a case report.
The radiologic findings of bilateral impacted maxillary cuspids with dentigerous cysts displacing the maxillary sinuses in a nonsyndromic patient, a condition that, to the authors' knowledge, has not been previously reported, are presented. Expand
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
The screening of 168 patients coming from independent Turkish families with prelingual sensorineural non-syndromic deafness revealed three deaf children with A1555G but no examples of A7445G. Expand
Magnetic resonance cholangiopancreatography of biliary system abnormalities in children.
OBJECTIVE The aim of this study was to assess the usefulness of magnetic resonance cholangiopancreatography (MRCP) with a single-shot fast spin-echo sequence as a noninvasive method to evaluate theExpand
Abdominal confluence of lymph trunks: detectability and morphology on heavily T2-weighted images.
Abdominal confluence of lymphatics seems to be present on most of the heavily T2-weighted images and its morphologic details and extensions can be visualized on images reconstructed with a maximum-intensity-projection algorithm. Expand
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT
This study suggests that genetic mechanisms might be very important in the pathogenesis of apparently sporadic CAKUT and identification of the underlying gene mutations will provide further insights into the knowledge of the kidney and urinary tract development and pathogenesis. Expand
Radiographic, CT, and MRI findings in primary pulmonary angiosarcoma.
A rare instance of primary pulmonary angiosarcoma presenting as a large solitary mass in the left upper lobe with mediastinal invasion with magnetic resonance (MR) imaging features is reported, rendering the lesion a cauliflower-like appearance especially on T2-weighted images. Expand
Takayasu arteritis in children.
Hypertension is the most common clinical feature at presentation in children with Takayasu arteritis in Turkey and corticosteroid and immunosuppressive therapy was effective in the control of disease activity. Expand
Efficacy of transrectal ultrasonography in the evaluation of hematospermia.
Transrectal ultrasonography should be the first radiological investigation to be performed in patients presenting with hematospermia and is believed to be a noninvasive, safe method for the investigation of causes of hematOSpermia. Expand