Results 211 to 220 of about 450,985 (343)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Precision medicine: a new era for inner ear diseases. [PDF]

Front Pharmacol
Tavazzani E, Spaiardi P, Contini D, Sancini G, Russo G, Masetto S.   +5 more
europepmc   +1 more source

Diseases of the Nose, Throat and Ear. Medical and Surgical [PDF]

, 1943

openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Corrigendum: Precision medicine: a new era for inner ear diseases. [PDF]

Front Pharmacol
Tavazzani E, Spaiardi P, Contini D, Sancini G, Russo G, Masetto S.   +5 more
europepmc   +1 more source

Diseases of the Throat, Nose and Ear. By Dan McKenzie, M. D., F. R. C. S. E., Surgeon, Central London Throat and Ear Hospital; Oto‐Laryngologist to the French Hospital, London; Hon. Cons. Laryngologist to the Emergency Hospital, Ilford; Editor of “The Journal of Laryngology, Rhinology and Otology.” With two coloured Plates and 199 Figures in the Text. C. V. Mosby Co., St. Louis

, 1921
Dan McKenzie
openalex   +1 more source

Middle-Ear Disease in School Children [PDF]

, 1937
F. J. G. Lishman
openalex   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Exploring the Significance of Vitamin D Levels as a Biomarker in Ear Diseases: A Narrative Review. [PDF]

Cureus
Hamayal M, Khurshied S, Zahid MA, Khurshid N, Shahid W, Ali M, Ahmed H, Nisa M.   +7 more
europepmc   +1 more source

Diseases of the Nose, Throat and Ear [PDF]

, 1937
J Simson Hall
openalex   +1 more source