Results 121 to 130 of about 74,884 (346)

A CDH23 missense variant in Beauceron dogs with non‐syndromic deafness

Animal Genetics, Volume 54, Issue 1, Page 73-77, February 2023., 2023
Abstract Congenital coat‐colour‐related deafness is common among certain canine breeds especially those exhibiting extreme white spotting or merle patterning. We identified a non‐syndromic deafness in Beauceron dogs characterised by a bilateral hearing loss in puppies that is not linked to coat colour. Pedigree analysis suggested an autosomal recessive
Marie Abitbol, Vidhya Jagannathan, Marie Lopez, Ambre Courtin, Caroline Dufaure de Citres, Vincent Gache, Tosso Leeb   +6 more
wiley   +1 more source

Comorbidities in aging patients with sickle cell disease. [PDF]

, 2018
Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing ...
Ballas, Samir K.
core   +2 more sources

Upward Spread of Masking in Normal and Sensorineural Subjects [PDF]

, 1968
J. M. Pickett, Ellen S. Martin
openalex   +1 more source

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient

Oman Medical Journal
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare autosomal recessive multisystemic disease with a prevalence of < 1/1 000 000.
Hasan M. Isa, Sara D. Khalaf, Sara Janahi, Mohamed M. Naser, Noor Al Hamad, Hasan Alhaddar, Maryam Busehail   +6 more
doaj   +1 more source

Effect of Sensorineural Damage upon the Cat's Intensity-Difference Threshold [PDF]

, 1964
Donald N. Elliott
openalex   +1 more source

The Effect of Rivaroxaban in the Complementary Therapy of Sudden Sensorineural Hearing Loss

Advanced Biomedical Research
Background: Due to the importance of sudden sensorineural hearing loss (SSNHL) and the possible role of blood coagulation in its mechanism and the likely therapeutic effect of anticoagulants and also the lack of studies in this field, this study aimed to
Mehrdad Rogha, Ehsan Moshtaghi
doaj   +1 more source

DPOAE in HIV infected adults [PDF]

, 2008
HIV infection is associated with impairment of hearing function, at any stage of disease causing complication to the external, middle, inner ear and CNS.
Bhat, Jayashree S, Ranjan, Rajesh
core  

Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies

Biomedicines
Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has ...
Nam K. Lee, Kristin M. Uhler, Patricia J. Yoon, Regie Lyn P. Santos-Cortez   +3 more
doaj   +1 more source

Congenital Rubella and CNS Defects

Pediatric Neurology Briefs, 1987
The University Department of Pediatrics and Child Health, Leeds, and the Department of Microbiology, Hospital for Sick Children, London, collaborated in a study of the time relations between maternal rubella infection in pregnancy and the presence and ...
J Gordon Millichap
doaj   +1 more source

When alarm bells ring: emergency tinnitus [PDF]

, 2016
OBJECTIVE: The aim of this study is to develop a diagnostic-therapeutic algorithm for those suffering from tinnitus who seek emergency aid. MATERIALS AND METHODS: A literature review has been performed on articles from the last 30 years. RESULTS: It is
Altissimi, Giancarlo, Cianfrone, Giancarlo, Ciofalo, Andrea, Greco, Antonio, Marinelli, C, Mazzei, F, Orlando, Maria Patrizia, Salviati, M, Testugini, C, Turchetta, Rosaria, Vincentiis, M. DE   +10 more
core