Results 101 to 110 of about 1,372 (198)

Penile agenesis associated with Treacher Collins syndrome [PDF]

, 2015
No ...
Rennert, Wolfgang P
core   +1 more source

Radiological Society of North America (RSNA) 3D printing Special Interest Group (SIG): Guidelines for medical 3D printing and appropriateness for clinical scenarios [PDF]

, 2014
Este número da revista Cadernos de Estudos Sociais estava em organização quando fomos colhidos pela morte do sociólogo Ernesto Laclau. Seu falecimento em 13 de abril de 2014 surpreendeu a todos, e particularmente ao editor Joanildo Burity, que foi seu ...
Burity, Joanildo, Fonte, Isolda Belo da, Melo, Patricia Bandeira de   +2 more
core   +1 more source

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle. [PDF]

Genes (Basel), 2020
Sieck RL, Fuller AM, Bedwell PS, Ward JA, Sanders SK, Xiang SH, Peng S, Petersen JL, Steffen DJ.   +8 more
europepmc   +1 more source

The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)

Scientific Reports
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human ...
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux   +9 more
doaj   +1 more source

Microssomia otomandibular: relato de caso Otomandibular microsomia: case report

Brazilian Journal of Otorhinolaryngology, 2011
Jozinete Vieira Pereira, Luiz Guedes de Carvalho Neto, Rudyard dos Santos Oliveira, Lúcia de Fátima de Oliveira Costa, Rosemberg de Oliveira Costa   +4 more
doaj   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

The Application of Clinical Genetics
Agata Kuci&nacute;ska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 &Lstrok;ukasz Przesór,1 Dobromi&lstrok;a Bara&nacute;ska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A   +8 more
doaj  

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. [PDF]

Am J Hum Genet, 2015
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.   +32 more
europepmc   +1 more source

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. [PDF]

Am J Hum Genet, 2015
Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM.   +14 more
europepmc   +1 more source