Results 201 to 210 of about 4,375,853 (312)

Hearing Preservation and Spatial Hearing Outcomes After Cochlear Implantation in Children With TMPRSS3 Mutations. [PDF]

Otol Neurotol, 2023
Peng ZE, Garcia A, Godar SP, Holt JR, Lee DJ, Litovsky RY.   +5 more
europepmc   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Impact of Fenestration Size and Prosthesis Diameter on Hearing Outcomes After Stapedotomy: A Review. [PDF]

Cureus
B H S, G D.
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Long-Term Hearing Outcomes Following Cochlear Implantation in Far Advanced Otosclerosis. [PDF]

Otolaryngol Head Neck Surg
Quatre R, Eklöf M, Wales J, Bonnard Å.
europepmc   +1 more source

Discriminant Analysis of the Prognostic Factors for Hearing Outcomes in Patients with Idiopathic Sudden Sensorineural Hearing Loss. [PDF]

J Int Adv Otol, 2023
Askar AA, Ghonim MR, Shabana YK.
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Impact of prosthesis position on hearing outcomes in otosclerosis patients based on ultra-high-resolution CT. [PDF]

Braz J Otorhinolaryngol
Yang C, Ding H, Zhang T, Zhao P, Wang Z, Gong S, Xie J.   +6 more
europepmc   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Corticosteroid Burden and Hearing Outcomes in Eosinophilic Otitis Media with and without Biologic Therapy: A Pilot Retrospective Cohort Study.

ORL J Otorhinolaryngol Relat Spec
Wada T, Arai Y, Aizawa Y, Sakasai K, Hatakeyama H, Oridate N.   +5 more
europepmc   +1 more source