Results 111 to 120 of about 194,711 (287)

MICROBIOLOGICAL AND THEIR ANTIMICROBIAL SUSCEPTIBILITY PATTERN IN PATIENTS WITH CHRONIC DISCHARGING EAR DISEASE

, 2015
Abhinav Paul Minj, Amit Kumar, Tarun Gurjar, Binod Sinha, Chandra Kant   +4 more
openalex   +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

Is Pattern of Acceptable Noise Level Growth for Apparently Normal Contralateral Ear Similar to Affected Ear in Unilateral Meniere’s Disease?

, 2023
Elahe Nasiri, Hamid Jalilvand, Nasrin Yazdani, Mohammad Ebrahim Mahdavi, Alireza Akbarzadeh Baghban   +4 more
openalex   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Infectious diseases of the ear, nose, throat, and bronchus

, 2019
Kamyar M. Hedayat, Jean-Claude Lapraz
openalex   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Discussion on “the Influence of Diseases and Abnormalities of the Nose on the Ear” [PDF]

, 1918
Hill
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

A Cloud-Edge Collaborative Model Training Framework for Assisted Classification of Middle Ear Diseases Based on Ultra-High-Resolution Temporal Bone CT Images [PDF]

Ting Wu, Yu Tang, Zigang Che, Juan Zhao, Jue Wang, Yanfeng Wu, Meng Wei, Shaoming He   +7 more
openalex   +1 more source

Three Cases of Middle-Ear Disease with Intracranial Complications [PDF]

, 1926
H. M. Wharry
openalex   +1 more source