Results 11 to 20 of about 4,886 (203)
Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome
Disease Models & Mechanisms, 2015 Microtia is a congenital malformation of the outer ears. Although both genetic and environmental components have been implicated in microtia, the genetic causes of this innate disorder are poorly understood.
Ruimin Qiao +9 more
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Identification of sequence variants associated with severe microtia-astresia by targeted sequencing
BMC Medical Genomics, 2019 Background Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities.
Pu Wang +8 more
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Integrated microtia and aural atresia management [PDF]
Frontiers in Surgery, 2022 ObjectivesTo present recommendations for the coordinated evaluation and management of the hearing and reconstructive needs of patients with microtia and aural atresia.MethodsA national working group of 9 experts on microtia and atresia evaluated a ...
Mai Thy Truong +10 more
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Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes
Scientific ReportsMicrotia is a congenital malformation characterized by underdevelopment of the external ear. While chondrocyte dysfunction has been implicated in microtia, the specific cellular abnormalities remain poorly understood.
Xinyu Li, Datao Li, Ruhong Zhang
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PLoS ONE, 2014 Microtia is a congenital deformity where the external ear is underdeveloped. Genetic investigations have identified many susceptibility genes of microtia-related syndromes.
Xin Li +7 more
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Genotype-phenotype associations in microtia: a systematic review [PDF]
Orphanet Journal of Rare DiseasesBackground Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini +6 more
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A simple ear splint for microtia patients
Indian Journal of Dental Research, 2015 Microtia is a congenital anomaly of the ear can occur as an isolated birth defect or as part of a spectrum of anomalies or as a syndrome. Microtia is often associated with impaired hearing and or total loss of hearing.
C J Venkata Krishnan +2 more
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Higher incidence of hematuria was observed in female children with microtia
Scientific Reports, 2023 The goals of this study were to investigate the incidence and characteristics of hematuria in patients with microtia, and to clarify that more attention should be paid to renal dysfunction in patients with microtia.
Na Sun +5 more
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HRCT evaluation of microtia: A retrospective study
Indian Journal of Radiology and Imaging, 2012 Purpose: To determine external, middle, and inner ear abnormalities on high-resolution computed tomography (HRCT) of temporal bone in patients with microtia and to predict anatomic external and middle ear anomalies as well as the degree of functional ...
Aruna R Patil +6 more
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The Turkish Journal of Pediatrics, 2001 Familial microtia with external ear canal atresia and conductive deafness is rarely reported. Autosomal dominant and recessive inheritance have been suggested depending on various family reports.
S Balci, K Boduroğlu, S Kaya
doaj +3 more sources