Results 51 to 60 of about 2,326 (188)

Mouth development [PDF]

, 2017
WIREs Developmental Biology published by Wiley Periodicals, Inc. A mouth is present in all animals, and comprises an opening from the outside into the oral cavity and the beginnings of the digestive tract to allow eating.
Adhikari, Amendt, Barlow, Barriga, Benouaiche, Boorman, Boxtel, Boyl, Boyle, Broun, Burns, Bush, Carmichael, Carmona-Fontaine, Carmona-Fontaine, Chai, Chiori, Cobourne, Couly, Couly, Crump, Dickinson, Dickinson, Dickinson, Eagleson, Fritzenwanker, Graham, Hill, Hinman, Hinman, Hobmayer, Houssin, Houssin, Hu, Huh, Jacox, Jacox, Keller, Keller, Kennedy, Khosrowshahian, Koop, Kurosaka, Lanctot, Liu, Liu, Magie, Malvasi, Martin-Duran, Martindale, Mayor, Medeiros, Minoux, Moura da Silva, Muncan, Murawski, Oliveri, Ornoy, Orup, Peter, Peter, Petersen, Poelmann, Reece, Saal, Saudemont, Scholz, Shi, Sinigaglia, Soukup, Szabo-Rogers, Tabler, Theveneau, Valdez, Van Otterloo, Veeman, Veistinen, Villavicencio, Watanabe, Waterman, Waterman, Waterman, Weichert, Yamada, Yoshikawa, Young, Yu, Zhang, Zorn   +88 more
core   +2 more sources

Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome

Pediatria Polska, 2014
AbstractTreacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The syndrome is characterized by a similar phenotype: micrognathia, microtia, midface hypoplasia, cleft lip and palate. The estimated incidence rate is 1/50000 live births.
Marszałek-Kruk, Bożena A., Śmigiel, Robert, Sąsiadek, Maria M.   +2 more
openaire   +1 more source

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

Frontiers in Genetics, 2021
PurposeThe conventional genetic screening for deafness involves 9–20 variants from four genes. This study expands screening to analyze the mutation types and frequency of hereditary deafness genes in Zhejiang, China, and explore the significance of in ...
Luhang Cai, Ya Liu, Yaping Xu, Hang Yang, Lihui Lv, Yang Li, Qiongqiong Chen, Xiaojiang Lin, Yihui Yang, Guangwei Hu, Guofeng Zheng, Jing Zhou, Qiyong Qian, Mei-ai Xu, Jin Fang, Jianjun Ding, Wei Chen, Jiong Gao   +17 more
doaj   +1 more source

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

Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction

Advanced Functional Materials, EarlyView.
Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch, Sandra Kessler, Simone Ponta, Anna Puiggalí‐Jou, Guoliang Lyu, Killian Flégeau, Anastasiya Martyts, Florian Roth, David Fercher, Filippo M. Rijli, Daniel Simmen, Eva Novoa Olivares, Thomas Linder, Marcy Zenobi‐Wong   +13 more
wiley   +1 more source

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Orphanet Journal of Rare Diseases, 2019
Background Treacher Collins syndrome (TCS, OMIM 154500) is an autosomal disorder of craniofacial development with an incidence rate of 1/50,000 live births.
Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen   +6 more
doaj   +1 more source

Associations between variants of FADS genes and omega-3 and omega-6 milk fatty acids of Canadian Holstein cows [PDF]

, 2014
BACKGROUND: Fatty acid desaturase 1 (FADS1) and 2 (FADS2) genes code respectively for the enzymes delta-5 and delta-6 desaturases which are rate limiting enzymes in the synthesis of polyunsaturated omega-3 and omega-6 fatty acids (FAs). Omega-3 and-6 FAs
Eveline M Ibeagha-Awemu, Frédéric Beaudoin, Kingsley A Akwanji, Xin Zhao   +3 more
core   +1 more source

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability [PDF]

European Journal of Human Genetics, 2013
Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene.
Marie, Vincent, Corinne, Collet, Alain, Verloes, Laetitia, Lambert, Christian, Herlin, Catherine, Blanchet, Elodie, Sanchez, Séverine, Drunat, Jacqueline, Vigneron, Jean-Louis, Laplanche, Jacques, Puechberty, Pierre, Sarda, David, Geneviève   +12 more
openaire   +2 more sources

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam, Mengmeng Shi, Zirui Dong, Kwong Wai Choy, Tak Yeung Leung, Ye Cao   +5 more
wiley   +1 more source

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Molecular Genetics & Genomic Medicine, 2021
Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and feet that ...
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali   +17 more
doaj   +1 more source