Results 61 to 70 of about 66,726 (167)
HYPOPARATHYROIDISM, DEAFNESS, AND RENAL DYSPLASIA
, 2014 Background. HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia caused by mutation of the GATA3 ...
COSKUN, H. +5 more
core +1 more source
Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness [PDF]
, 2013 Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the ...
Saraiva, JM +5 more
core +2 more sources
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Background Certain blood components, including blood lipids, coagulation parameters, and homocysteine, have been suggested to correlate with the incidence and prognosis of sudden sensorineural hearing loss (SSNHL). However, the nature of these associations remains controversial.
Feng‐Xin Yang +8 more
wiley +1 more source
The Role of A Surgeon in Restoring the Senses & in Biomedical Engineering
ANZ Journal of Surgery, EarlyView.ABSTRACT This review is based on my 2025 Jepson Lecture and outlines my personal journey to restore hearing in people with a severe sensorineural hearing loss. My dream started as a 5‐year‐old as I told my kindergarten teacher when I grow up ‘I want to fix ears’ because my father is deaf. The journey resulted in a career in surgery followed by auditory
Graeme M. Clark
wiley +1 more source
, 2001 A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure
Roper, HP +11 more
core +1 more source
Eeyore: a novel mouse model of hereditary deafness. [PDF]
PLoS ONE, 2013 Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a ...
Kerry A Miller +3 more
doaj +1 more source
Acta Ophthalmologica, EarlyView.Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa +5 more
wiley +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim To investigate parent‐reported psychiatric, neurodevelopmental and adaptive functioning outcomes in children with congenital cytomegalovirus (cCMV)‐related sensorineural hearing loss. Methods Parents of children aged 5–12 years were recruited nationwide in Sweden into three groups: children with congenital cytomegalovirus‐related ...
A. Michel Sandström +2 more
wiley +1 more source
Case of Waardenburg Shah syndrome in a family with review of literature
Journal of Otology, 2018 Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah
Setty.L.N. Chandra Mohan
doaj +1 more source
Clinical Genetics, EarlyView.Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund +5 more
wiley +1 more source