Cargando…

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature

(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a comp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Neagu, Alexandra-Cristina, Budișteanu, Magdalena, Gheorghe, Dan-Cristian, Mocanu, Adela-Ioana, Mocanu, Horia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501263/ https://www.ncbi.nlm.nih.gov/pubmed/36143929 http://dx.doi.org/10.3390/medicina58091252

Ejemplares similares

Rare and unusual benign tumors of the sinonasal tract and pharynx: Case series and literature review
por: Mocanu, Horia, et al.
Publicado: (2022)

The Influence of Clinical and Environmental Risk Factors in the Etiology of Congenital Sensorineural Hearing Loss in the Romanian Population
por: MOCANU, Horia, et al.
Publicado: (2019)

Long-term histological results of ossicular chain reconstruction using bioceramic implants
por: Mocanu, Horia, et al.
Publicado: (2021)

Materials for ossicular chain reconstruction: History and evolution (Review)
por: Mocanu, Horia, et al.
Publicado: (2023)

Perceived Academic Self-Efficacy among Romanian Upper Secondary Education Students
por: Zamfir, Ana-Maria, et al.
Publicado: (2020)

Some Manifestations of Tuberculosis in Otorhinolaryngology – Case Series and a Short Review of Related Data from South-Eastern Europe
por: Mocanu, Adela-Ioana, et al.
Publicado: (2022)

Analysis of long-term functional results of radical mastoidectomy
por: Mocanu, Horia, et al.
Publicado: (2021)

Analysis of long-term anatomic results of radical mastoidectomy
por: Mocanu, Horia, et al.
Publicado: (2022)

Combining Supervised and Unsupervised Learning Algorithms for Human Activity Recognition
por: Budisteanu, Elena-Alexandra, et al.
Publicado: (2021)

Intraoperative flap-related complications in FemtoLASIK surgeries performed with Visumax(®) femtosecond laser: A ten-year Romanian experience
por: Tăbăcaru, Bogdana, et al.
Publicado: (2020)

Floating-Harbor Syndrome: Presentation of The First Romanian Patient with a SRCAP Mutation and Review of The Literature
por: Budisteanu, M, et al.
Publicado: (2018)

What Encourages Longer Educational Careers in Tertiary Education? A Three-Level Approach for the Case of Romanian Universities
por: Zamfir, Ana-Maria, et al.
Publicado: (2021)

Predictors of Economic Outcomes among Romanian Youth: The Influence of Education—An Empirical Approach Based on Elastic Net Regression
por: Zamfir, Ana-Maria, et al.
Publicado: (2022)

Magnetic resonance imaging of brain anomalies in adult and pediatric schizophrenia patients: Experience of a Romanian tertiary hospital
por: Iliuta, Floris Petru, et al.
Publicado: (2021)

Sphingomonas paucimobilis keratitis in a patient with neurotrophic keratopathy and severe neurosensory hypoacusis: Treatment with penetrating keratoplasty and amniotic membrane grafting
por: Roca, Manuel, et al.
Publicado: (2018)

Uncommon erythema multiforme in small children: experience of a single Romanian pediatric unit: Two case reports
por: Mocanu, Adriana, et al.
Publicado: (2019)

Inflammatory bowel diseases: a burden in pediatrics: Case series and a review of the literature
por: Mărginean, Cristina Oana, et al.
Publicado: (2017)

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies—Data from a Romanian Cohort
por: Riza, Anca-Lelia, et al.
Publicado: (2022)

Diagnosis stability and outcome of psychotic episodes in a Romanian group of children and adolescents
por: Rad, Florina, et al.
Publicado: (2022)

Clinical Features and Paraclinical Findings in Patients with SARS CoV-2 Pneumonia and the Impact of Pulmonary Rehabilitation on the Instrumental Activities of Daily Living in POST-COVID-19 Patients
por: Postolache, Paraschiva A., et al.
Publicado: (2023)

The Burden of Cerebral Venous Thrombosis in a Romanian Population across a 5-Year Period
por: Stan, Adina, et al.
Publicado: (2022)

Clinical, histopathological and immunohistochemical changes of the superficial marginal periodontium caused by orthodontic treatment with fixed metallic orthodontic appliances
por: Katta, Mahmoud, et al.
Publicado: (2022)

A rare case of iron-pill induced gastritis in a female teenager: A case report and a review of the literature
por: Meliţ, Lorena Elena, et al.
Publicado: (2017)

Particular evolution of newborns exposed to HIV/AIDS in the Romanian cohort
por: Mărdărescu, Mariana, et al.
Publicado: (2013)

Individual Characteristics as Prognostic Factors of the Evolution of Hospitalized COVID-19 Romanian Patients: A Comparative Observational Study between the First and Second Waves Based on Gaussian Graphical Models and Structural Equation Modeling
por: Mocanu, Alexandra, et al.
Publicado: (2021)

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population
por: Gug, Cristina, et al.
Publicado: (2022)

Evaluation of Vibrant(®) Soundbridge™ positioning and results with laser doppler vibrometry and the finite element model
por: Mocanu, Horia, et al.
Publicado: (2021)

Mining TCGA Database for Genes with Prognostic Value in Breast Cancer
por: Filippi, Alexandru, et al.
Publicado: (2023)

Analysis of Risk Factors for the Development of Gestational Diabetes Mellitus in a Group of Romanian Patients
por: Preda, Agnesa, et al.
Publicado: (2022)

Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report
por: Gug, Cristina, et al.
Publicado: (2018)

Romanian Inventory of Depression and Anxiety Symptoms (IDAS-II)
por: Petre, Ligiana Mihaela, et al.
Publicado: (2023)

Polyphenols and Cardiometabolic Health: Knowledge and Concern among Romanian People
por: Haș, Ioana Mariana, et al.
Publicado: (2023)

Determinants of Suicide Ideation in the Romanian Population
por: Vuscan, Mihaela Elvira, et al.
Publicado: (2022)

Alcohol use disorder with comorbid anxiety disorder: a case report and focused literature review
por: Mocanu, Victor, et al.
Publicado: (2022)

Strategies for Improving Bioavailability, Bioactivity, and Physical-Chemical Behavior of Curcumin
por: Racz, Levente Zsolt, et al.
Publicado: (2022)

Intellectual Capital and the Romanian organization performance in Ophthalmology
por: Gheorghe, Consuela Mădălina
Publicado: (2020)

Rib Exostoses Presenting as Mediastinal Masses: A Rare Presentation and Minireview of the Literature
por: Butcovan, Doina, et al.
Publicado: (2020)

Post Placement and Restoration of Endodontically Treated Canines: A Finite Element Analysis Study
por: Popescu, Alexandru Dan, et al.
Publicado: (2022)

Abdominal Radical Trachelectomy: A Romanian Series
por: Căpîlna, Mihai Emil, et al.
Publicado: (2014)

Psychometric properties of the Romanian version of the female sexual function index (FSFI-RO)
por: Daescu, Ana-Maria Cristina, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_ng4th6qt2p3ga7rkgebm9c1tst