Results 71 to 80 of about 3,759 (221)

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang   +8 more
doaj   +1 more source

Silver-Russell syndrome in Hong Kong [PDF]

, 2016
published_or_final_versio
Brian HY Chung, HM Luk, Ivan FM Lo, KS Yeung, null null, Tony MF Tong, WL Wong   +6 more
core   +1 more source

Crouzon's craniofacial dysostosis in Kenya. [PDF]

British Journal of Ophthalmology, 1988
A 5-year-old child with Crouzon's disease presented with luxation of the eyeballs and advanced endophthalmitis as a result of which both the eyes had to be enucleated. This case led us to study the family pedigree. The factors influencing the pattern of clinical presentation, and hence the ultimate treatment of orbital disease, are discussed.
Chana, HS, Klauss, V
openaire   +2 more sources

Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide‐B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish

Birth Defects Research, Volume 116, Issue 11, November 2024.
ABSTRACT Background Mutations in genes encoding spliceosome components result in craniofacial structural defects in humans, referred to as spliceosomopathies. The SF3b complex is a crucial unit of the spliceosome, but model organisms generated through genetic modification of the complex do not perfectly mimic the phenotype of spliceosomopathies.
Yukiko Hoshino, Shujie Liu, Toshiko Furutera, Takahiko Yamada, Daisuke Koyabu, Yuko Nukada, Masaaki Miyazawa, Tetsuya Yoda, Koichiro Ichimura, Sachiko Iseki, Junichi Tasaki, Masaki Takechi   +11 more
wiley   +1 more source

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos, Ashokan, Bassett, Boutros, Burstyn-Cohen, Cooper, Creuzet, Dixon, Douarin, Douarin, Dudas, Ezaldein, Graham, Green, Hou, Hsu, Huang, Ibrahimi, Ishii, Ito, Jabs, Jones, Kaartinen, Lalani, Loeys, Matera, Minoux, Mishina, Miura, Nagashima, Noden, Papangeli, Pelaez, Perez-Alcala, Pingault, Reardon, Rinon, Rogers, Roscioli, Sanger, Santagati, Shprintzen, Simoes-Costa, Southard-Smith, Takahashi, Theveneau, Theveneau, Trainor, Wang, Winograd, Xu, Young   +51 more
core   +1 more source

Congenital malformation in green turtle embryos and hatchlings

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 341, Issue 8, Page 925-936, October 2024.
– We aimed to examine and characterize the congenital malformations observed in green turtle nests. – We conducted the study in 2022 and examined 907 green turtle nests on Samandağ beach, eastern Mediterranean. – We recorded a total of 2986 instances of congenital malformations, with a prevalence of 39% and a severity rate of 3.8%.
Bektaş Sönmez, Özlem Sağol
wiley   +1 more source

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

the rare bone disorders use case [PDF]

, 2015
Background Lately, ontologies have become a fundamental building block in the process of formalising and storing complex biomedical information. The community-driven ontology curation process, however, ignores the possibility of multiple communities ...
Groza, Tudor, Robinson, Peter N., Tudorache, Tania, Zankl, Andreas   +3 more
core   +1 more source

Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes

Prenatal Diagnosis, Volume 44, Issue 10, Page 1150-1158, September 2024.
Abstract Objective Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses—=CHARGE and Mandibulo‐Facial Dysostosis Guion Almeida type (MFDGA)—versus controls. Method We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes ...
Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault, Thomas Bouygues, Sandrine Marlin, Jeanne Amiel, Lucile Boutaud, Maxime Douillet, Stanislas Lyonnet, Vèronique Pingault, Arnaud Picard, Marlèe Rio, Tania Attie‐Bitach, Roman H. Khonsari, Nathalie Roux   +14 more
wiley   +1 more source

Computed tomography assessment of Apert syndrome Avaliação da síndrome de Apert por meio da tomografia computadorizada

Brazilian Oral Research, 2004
Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface ...
Marco Antônio Portela Albuquerque, Marcelo Gusmão Paraíso Cavalcanti   +1 more
doaj   +1 more source