Results 41 to 50 of about 1,356 (192)

Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]

, 1997
Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty, Christian Lanctôt, Debra Gilbert, Jacques Drouin, Jacques J. Tremblay, Michael J. Crawford, Montréal Québec Hw, Nancy Jenkins, Neal Copel   +8 more
core   +4 more sources

Clinical spectrum of Treacher Collins syndrome

Journal of Oral Biology and Craniofacial Research, 2011
: Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra, Mahdi Hasan, Rahul Pandey, Sumit Kumar   +3 more
doaj   +1 more source

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. [PDF]

, 2017
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly ...
A Dauber, A Ramu, Alex Henderson, Angus Clarke, C Wells, CA Martin, CF Wright, D D D Study, D Lehalle, D Trujillano, David R FitzPatrick, Fiona Stewart, Franziska Roessler, HV Firth, J Thevenon, Jane Hurst, JBGM Verheij, Jonathan Zonana, Julie Vogt, Julien Thevenon, Kaja K Selmer, Karen J Low, Katrina Tatton-Brown, Kory Keller, M Ansari, M Kircher, M Tooley, Magnus D Vigeland, Marjolaine Willems, Mark Greenslade, MD Vigeland, Michael C Schneider, ML Hastings, Morad Ansari, Paul Kuentz, Rami Abou Jamra, S El Chehadeh, Salima El Chehadeh, Sarah F Smithson, SB Patel, Trine Prescott   +40 more
core   +3 more sources

An Acrofacial Dysostosis Case of Rodriguez Type [PDF]

, 2010
Acrofacial dysostosis (AFD) is an extremely rare syndrome, characterized by severe mandibulofacial dysostosis and various limb anomalies. Based on the variation in limb deformities, two major types are recognized: (1) Nager?type AFD, presenting ...
Asututi, Ida ayu, Fujiwara, Kumiko, Inoue, Sayaka, Natsume, Nagato, Noguchi, Makoto, Ruslin, Muhammad, Zhou, Zhibo   +6 more
core   +1 more source

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later [PDF]

, 2017
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant condition that was first described in 2006. The causative gene, EFTUD2, identified in 2012.
A Verloes, C Shaw-Smith, CLM Marcelis, DL Baker, G Meroni, J Celli, JL Berliner, L Huang, LE Vissers, Linford A. Williams, M Lines, MA Lines, MD Graf, ML Guion-Almeida, ML Guion-Almeida, N Carstens, NA Quaderi, P Fabrizio, P Hsu, PA Deverka, R Combs, Shane C. Quinonez, SM Weissman, SR Lalani, TY Tan, Wendy R. Uhlmann, WR Uhlmann   +26 more
core   +1 more source

Franceschetti syndrome (mandibulo-facial dysostosis) at a newborn [PDF]

Саратовский научно-медицинский журнал, 2015
The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis) resulting from defeat of the structures proceeding from the first branchial arch.
Nechaev V.N., Tereshenko V.A., Stasova Yu.V., Chernenkov Yu.V.   +3 more
doaj  

Treacher Collins syndrome and implications in the oral cavity [PDF]

, 2020
Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as ...
Cardoso, Inês Lopes, Duque, C.
core   +1 more source

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. [PDF]

, 2014
PURPOSE: Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP).
Ascari, G., Avila-Fernandez, A., Ayuso, C., Benaglio, P., Berson, E.L., Hamel, C., Harper, S., Manes, G., Rivolta, C., San Jose, P.F.   +9 more
core   +7 more sources

The Role of the U5 snRNP in Genetic Disorders and Cancer

Frontiers in Genetics, 2021
Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors.
Katherine A. Wood, Katherine A. Wood, Megan A. Eadsforth, William G. Newman, William G. Newman, Raymond T. O’Keefe   +5 more
doaj   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source