Results 151 to 160 of about 47,990 (266)

Human versus AI in audiological practice: A comparative evaluation of ChatGPT and physician treatment decisions in idiopathic sudden sensorineural hearing loss. [PDF]

PLoS One
Caragli V, Pellegrino M, Pingani L, Galeazzi GM, Soloperto D, Genovese E, de Filippis C, Marioni G, Franz L.   +8 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, Volume 110, Issue 3, Page 363-368, September 2026.
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

Statement of Retraction: MiR-106a facilitates the sensorineural hearing loss induced by oxidative stress by targeting connexin-43. [PDF]

Bioengineered
europepmc   +1 more source

Coexistence of Proteinase 3 (PR3)-Positive Granulomatosis With Polyangiitis and Genetically Confirmed Alport Syndrome in a 31-Year-Old Female Patient: A Diagnostic and Management Challenge. [PDF]

Cureus
Valdes L, Ludena A, Pantoja Miranda JC, Ortiz J, Angly S.   +4 more
europepmc   +1 more source

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

Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
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

From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring. [PDF]

Diseases
Kovacevic G, Cirkovic S, Petrovic G, Stanojevic M, Lalic T, Ilic N, Ostojic S, Siljic M, Alimpic B, Tesic M, Ilic P, Krstic J, Cirkovic J, Sarajlija A.   +13 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
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

Sensorineural hearing loss after pediatric cranial radiotherapy: a multicenter analysis of dosimetric and clinical risk factors. [PDF]

Support Care Cancer
Gehin W, Ollivier L, Jouglar E, Dossun C, Jolnerovski M, Bernier-Chastagner V.   +5 more
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 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