Results 91 to 100 of about 130,744 (316)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

An epistatic explanation

eLife, 2016
Interactions between two gene variants that rarely cause midline craniosynostosis on their own make the development of the disorder a certainty.
Yoshihiro Komatsu, Yuji Mishina
doaj   +1 more source

Complications in craniofacial surgery: The Turkish experience

, 2000
The records of 71 patients who underwent 75 consecutive craniofacial procedures involving a transcranial component have been analyzed retrospectively to assess the incidence and type of complications encountered during the 14-year period of 1985 to 1998 ...
Guner, U, Ozek, C, Gurler, T, Celik, N, Songur, E, Kececi, Y, Mutluer, S   +6 more
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Preservation of Olfaction after Unilateral Endoscopic Approach for Resection of Esthesioneuroblastoma

Journal of Neurological Surgery Reports, 2014
Objectives We present a case of olfactory preservation after a unilateral transcribriform transethmoidal endoscopic resection of esthesioneuroblastoma.
Aaron Wessell, Ameet Singh, Zachary Litvack   +2 more
doaj   +1 more source

Craniofacial Implants Success in Facial Rehabilitation

, 2011
The use of craniofacial implants is an effective treatment for patients with deformities, burns, and cancer sequelae. The sites with the most successful implants are the auricular, nasal, and orbital regions.
Stefan Fiúza de Carvalho Dekon, Amália Moreno, Goiato, Marcelo Coelho, Dekon, Stefan Fiuza de Carvalho [UNESP], Pellizzer, Eduardo Piza, Eduardo Piza Pellizzer, Santiago, Joel Ferreira, Santos, Daniela Micheline dos, Moreno, Amalia, Daniela Micheline dos Santos, Joel Ferreira Santiago, Pellizzer, Eduardo Piza [UNESP], Dekon, Stefan Fiuza de Carvalho, Marcelo Coelho Goiato, Santos, Daniela Micheline dos [UNESP], Goiato, Marcelo Coelho [UNESP]   +15 more
core   +1 more source

DISPLASIA KRANIOFASIAL AKIBAT GANGGUAN TUMBUH KEMBANG MENURUT PATOMORFOGENESIS

Journal of Dentistry Indonesia, 2015
Craniofacial dysplasias are rarely found, but the frequency of cleft lip and palate in Indonesia is quite high. Accurate observation and identification this dysplasia should be done before treatment.
Miesje Karmiati Purwanegara
doaj   +1 more source

Control mechanisms in craniofacial growth : proceedings of a sponsored symposium honoring Professor Robert E. Moyers held April 26th and 27th, 1974 in Ann Arbor, Michigan.

, 1975
http://babel.hathitrust.org/cgi/pt?id=mdp.39015007423828;view=2up;ui=fullscreen#page/n0/mode ...
Symposium on Craniofacial Growth
core  

Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome

, 2014
Oropharyngeal teratoma may occur by itself or together with other craniofacial malformations, most commonly cleft palate. Oropharyngeal teratoma may be also seen in association with frontonasal dysplasia and/or various degrees of craniofacial duplication.
LAINO, LUIGI, POLIMENI, Antonella, PAPOFF, PAOLA, CASTORI, MARCO, Servadei F, ROGGINI, Mario, GIANCOTTI, Antonella, MANGANARO, Lucia, CASCONE, PIERO, TARANI, Luigi, PIZZUTI, Antonio, GRAMMATICO, Paola, LENZI, JACOPO, Pediatric Craniofacial Malformation Study Group, SILVESTRI, ALESSANDRO   +14 more
core   +1 more source

Sports-Related Craniofacial Injuries Among Pediatric and Adolescent Females: A National Electronic Injury Surveillance System Database Study

, 2021
Number of female athletes continues to exponentially increase in all sports; however, available literature detailing craniofacial injuries remains scarce. Compared to male athletes, female athletes may experience different types of injuries. These may be
Kim, Minji, Minji Kim, Seth R. Thaller, Thaller, Seth R, Moeller, Ellie, Ellie Moeller   +5 more
core   +1 more source