Results 161 to 170 of about 2,522,918 (175)

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis

American Journal of Medical Genetics, Part A, 2005
Tadashi Ariga, Katsumi Horiuchi, Tsuneki Sugihara   +2 more
exaly  

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome

Molecular Genetics and Genomics, 2014
Zhi-Chun Feng
exaly  

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature†

Human Mutation, 2005
Cibele Masotti, M Rita Passos-Bueno
exaly  

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

European Journal of Human Genetics, 2012
Tracy Lester
exaly  

Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene

Clinical Genetics, 2012
exaly  

Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome

Frontiers in Pediatrics
Yahong Liu
exaly  

Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1

Pediatrics International, 2008
Tadashi Ariga, Makoto Otsu, Katsumi Horiuchi   +2 more
exaly  

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Human Mutation, 2000
Decio Brunoni, Denise Pontes Cavalcanti, Luis G. Alonso   +2 more
exaly  

Novel mutation in exon 13 of the TCOF1 gene in the patient with Treacher-Collins syndrome

European Journal of Human Genetics, 2014
Bożena Marszałek-Kruk, Śmigiel, Robert, Sąsiadek, Maria   +2 more
openaire   +1 more source

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome

Cleft Palate-Craniofacial Journal
Zhong-Lin Jia, Yansong Lin, Bing Shi
exaly