Results 161 to 170 of about 104,561 (316)

Ergonomic Trends in Endoscopic Skull-Base Surgeons: A Survey to the North American Skull Base Society. [PDF]

open access: yesOTO Open
Mandloi S   +8 more
europepmc   +1 more source

3D Anatomy of the Orbit and Skull Base (video)

open access: yes, 2016
This symposium will take atendees on a tour of the anatomy of the skull base and orbit, using 3D projecton and glasses. The review will include the bones, vasculature, nerves, and sof tssue structures contained in and around the orbit, sphenoid bone ...
Juan C. Fernandez-Miranda, MD
core  

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George   +11 more
wiley   +1 more source

Anterior skull base reconstruction: easy and efficient with autoclaved autologous bone flap

open access: yes
Reconstruction: easy and efficient with autoclaved autologous bone flap (Presentation abstract in 3rd European Skull Base Congress, London, 9-11 April ...
Sáiz-Sapena, Nieves   +1 more
core  

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

Pre-operative embolization of skull base meningiomas. [PDF]

open access: yesNeurooncol Adv
Ashraf O   +5 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Petroclival meningioma. The role of skull base approaches in their surgical management.

open access: yes, 1997
31 cases of petroclival meningioma have been operated on during a 4-year period using two different philosophies as far as the approach. Group A patients ( 13 cases) have been operated on using mostly either a subtemporal transtentorial or a retrosigmoid
Konovalov, AN   +5 more
core  

Home - About - Disclaimer - Privacy