Results 151 to 160 of about 76,904 (360)

Cochlear Implantation after Kidney Transplantation

open access: yesInternational Journal of Organ Transplantation Medicine, 2012
Patients with chronic renal failure may develop sensorineural hearing loss. Cochlear implantation has rarely done after organ transplantation. Herein, we report on a 33-year-old kidney transplantation recipient who underwent cochlear implantation for her
B Hasehmi, H Bahrani Fard, Z Zandifra
doaj  

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

open access: yesClinical Genetics, EarlyView.
We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman   +11 more
wiley   +1 more source

Hearing loss in Adult Women with Turner Syndrome [PDF]

open access: yes, 2013
L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner.
Andreu Castelo-Branco, Camil   +5 more
core  

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

open access: yesClinical Genetics, EarlyView.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix   +3 more
wiley   +1 more source

Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock‐In Model for Human DFNX1 Deafness

open access: yesClinical Genetics, EarlyView.
Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan   +6 more
wiley   +1 more source

Sensorineural hearing loss from quinolinic acid: A neurotoxin in middle ear effusions [PDF]

open access: bronze, 1994
Robert F. Yellon   +8 more
openalex   +1 more source

Association of serum lycopene with low-frequency hearing loss in adults in their 70s based on NHANES database

open access: yesScientific Reports
Age-related hearing loss is the third most common health condition affecting elderly individuals. The relationship between lycopene in blood and sensorineural hearing loss in elderly adults has rarely been reported.
Yuan Wang, Huifen Yang, Caiqin Huang
doaj   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

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