Results 41 to 50 of about 1,362 (197)

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

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

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

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  

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, Giulia, Avila-Fernandez, Almudena, Ayuso, Carmen, Benaglio, Paola, Berson, Eliot L., Hamel, Christian, Harper, Shyana, Manes, Gaël, Rivolta, Carlo, San Jose, Patricia Fernandez   +9 more
core   +7 more sources

Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement [PDF]

, 2008
No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/61218/1/2074_ftp ...
Aylsworth, Benson, Chemke, Danziger, Halal, Hall, Le Merrer, Nager, Paladini, Sulik   +9 more
core   +1 more source

A familial case of cleidocranial dysostosis presenting upper limb ischemia

São Paulo Medical Journal
CONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented ...
Walter Campos Júnior, Roberta Murasaki Cardoso, Ronald Fidelis, Erasmo Simão da Silva, Rodrigo Ramos   +4 more
doaj   +1 more source

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

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

First and second branchial arch syndromes: multimodality approach [PDF]

, 2018
First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches.
Gudinchet, François, Jaques, Bertrand, Laswed, Tarek, Maestre, Leonor, Meuli, Reto, Meuwly, Jean-Yves, Senggen, Elodie   +6 more
core