Results 181 to 190 of about 164,845 (267)

Long term effects of middle ear problems on learning and behaviour: an investigation into the long term effects of the fluctuating, conductive hearing loss caused by otitis media with effusion for adolescent students [PDF]

, 2010
Janice Stenton
openalex  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Comparative evaluation of flat-panel volume CT protocols for high-resolution visualization of middle ear anatomy in human skull specimens. [PDF]

Sci Rep
Müller-Graff FT, von Düring J, Spahn B, Weick S, Richter A, Grunz JP, Neun T, Hackenberg S, Rak K.   +8 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Jugulotympanic Glomus: A Case Report on a Rare Presentation of a Vascular Middle Ear Tumor. [PDF]

Cureus
Heredia MJ, Lopez-Zamarron KY, Leon Figueredo E, Ligori Vasquez EK, Enriquez Chavez D, Jarquin Cervantes MI.   +5 more
europepmc   +1 more source

Spontaneous resolution of brain abscess by rupture into middle ear

, 2019
Mohit Agrawal, Manoj Phalak, Smriti Panda, Shashank Sharad Kale   +3 more
openalex   +1 more source

PRIMARY RESONANCE ANALYSIS OF MIDDLE EAR SYSTEM SUBJECTED TO NARROW-BAND RANDOM EXCITATION

Jixie qiangdu
Taking the middle ear system as the research object,the nonlinear vibration characteristics of the human ear under narrow-band random acoustic excitation were studied.According to the three-degree-of-freedom nonlinear model of the middle ear,the ...
doaj  

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Effects of inner ear abnormalities on middle ear mechanics: Findings from adults with MD and LVAS. [PDF]

Braz J Otorhinolaryngol
Jiang W, Mu Y, Lin H, Shen C, Zhang H, Zhao F, Qiao Y, Li X, Liu W.   +8 more
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source