Results 171 to 180 of about 55,611 (300)

Hearing Outcomes Following Ventriculoperitoneal Shunt Placement: A Scoping Review. [PDF]

J Clin Med
Vibhute M, Zhang R, Bareiss A, Mangan AR, Nguyen K, Goodman E, Dornhoffer J, Saadi RA.   +7 more
europepmc   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Assessment of Vestibular Function in Patients with Congenital Bilateral Sensorineural Hearing Loss: A Case-Control Study. [PDF]

J Clin Med
Piechocka M, Markowski J, Śpiewak P, Dobosz P, Kopeć-Gołdyn S, Piechocki M.   +5 more
europepmc   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, EarlyView.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

When hearing loss mimics autism: Enlarged vestibular aqueduct syndrome in an 11-year-old child-A case report. [PDF]

J Int Med Res
Alras A, Alfandi A, Khattab K, Hejaze B, Almoazen S, AlHourani AA, Abo Al Shamat A, Jumaa A, Alsharef Y, Alras T, Almukbel R, Othman H.   +11 more
europepmc   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Early Auditory Stimulation, Not Device Type: Comparable Cortical Maturation in Children Using Cochlear Implants or Hearing Aids. [PDF]

Children (Basel)
Tumuklu K, Gunsoy B.
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Economic evaluation of hearing aid use and quality of life in older adults with hearing impairment in India. [PDF]

Front Med Technol
Sahoo RK, Sahoo KC, Pattanayak U, Sinha A, Jena A, Aimol LW, Rajsekar K, Bhattacharya D, Pati S.   +8 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source