Results 41 to 50 of about 11,048 (255)

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 more sources

Artificial intelligence for assessing the severity of microtia via deep convolutional neural networks

Frontiers in Surgery, 2022
Background Microtia is a congenital abnormality varying from slightly structural abnormalities to the complete absence of the external ear. However, there is no gold standard for assessing the severity of microtia.
Dawei Wang, Xue Chen, Yiping Wu, Hong-bo Tang, P. Deng   +4 more
semanticscholar   +1 more source

Association of drug treatments in pregnant women with the risk of external ear congenital abnormalities in their offspring: a population-based case-control study [PDF]

, 2014
The objective of this study was to evaluate the possible association of drug treatments in pregnant women with a higher risk of congenital abnormalities of the external ear, particularly microtia/anotia, in their children.
Bánhidy Ferenc, Czeizel Endre, Paput László   +2 more
core   +1 more source

Characteristics of sound localization in children with unilateral microtia and atresia and predictors of localization improvement when using a bone conduction device

Frontiers in Neuroscience, 2022
This study aimed to determine the characteristics of sound localization in children with unilateral microtia and atresia (UMA) and the influence of a non-surgical bone conduction device (BCD). Hearing benefits were evaluated by the word recognition score
Yujie Liu, Chunli Zhao, Lin Yang, Peiwei Chen, Jinsong Yang, Danni Wang, R. Ren, Y. Li, Shouqin Zhao, S. Gong   +9 more
semanticscholar   +1 more source

The study of expanded tri-lobed flap in a rabbit model: possible flap model in ear reconstruction? [PDF]

, 2003
Background Local flaps are widely used in reconstructive surgery. Tri-lobed skin flap is a relatively new flap and there has been no experimental model of this flap.
T Harashina, H Weerda, H Ohtsuka, HY Tanabe, S Pompei, M Ao, E Copcu, C Park, C Radovan, Y Hata, N Iida, N Iida, JFS Esser, JC McGregor, JL Cook, LG Farkas, EF Aguilar 3rd, S Nagata, RC Tanzer, B Brent, B Brent, JK Masson, A Renard, CG Neumann, B Brent, R Tanino, AM Danino   +26 more
core   +1 more source

BMP signaling maintains auricular chondrocyte identity and prevents microtia development by inhibiting protein kinase A

bioRxiv
Elastic cartilage constitutes a major component of the external ear, which functions to guide sound to the middle and inner ears. Defects in auricle development cause congenital microtia, which affects hearing and appearance in patients.
Ruichen Yang, Hongshang Chu, Hua Yue, Yuji Mishina, Zhenlin Zhang, Huijuan Liu, Baojie Li   +6 more
semanticscholar   +1 more source

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. [PDF]

, 2015
We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373).
Bonafé, L., Campos-Xavier, B., Castillo-Taucher, S., Chae, J.H., Cho, T.J., Choi, M., Dikoglu, E., Girardi, E., Kim, O.H., Moreno-Salinas, R., Rivolta, C., Royer-Bertrand, B., Superti-Furga, A., Superti-Furga, G., Unger, S.   +14 more
core   +3 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Co-culture of RhoA-overexpressed Microtia Chondrocytes and Adipose-Derived Stem Cells in the Construction of Tissue-engineered Ear-shaped Cartilage.

Stem Cells
Microtia is a congenital auricle dysplasia with a high incidence and tissue engineering technology provides a promising strategy to reconstruct auricles.
Yi Wu, Jian Wang, Xiu Li, Kang Wang, Zonglin Huang, Qian Wang, Xin Fu, Haiyue Jiang, Bo Pan, Ran Xiao   +9 more
semanticscholar   +1 more source

Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey Study

The Cleft Palate-Craniofacial Journal, 2022
Objectives To (1) appraise current international classification and clinical management strategies for craniofacial microsomia (CFM) and microtia, and (2) to assess agreement with the European Reference Network “European Guideline Craniofacial ...
E.M. Ronde, J. Nolte, F. Kruisinga, S. Maas, O. Lapid, F. Ebbens, A. Becking, C. Breugem   +7 more
semanticscholar   +1 more source