Cargando…

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthalmic examination including visual acuity and color vi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nasser, Fadi, Kohl, Susanne, Kurtenbach, Anne, Kempf, Melanie, Biskup, Saskia, Zuleger, Theresia, Haack, Tobias B., Weisschuh, Nicole, Stingl, Katarina, Zrenner, Eberhart
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322102/ https://www.ncbi.nlm.nih.gov/pubmed/35886001 http://dx.doi.org/10.3390/genes13071218

Ejemplares similares

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
por: Kuehlewein, Laura, et al.
Publicado: (2021)

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies
por: Nowomiejska, Katarzyna, et al.
Publicado: (2022)

Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome
por: Kamme, Christina, et al.
Publicado: (2016)

Bardet–Biedl Syndrome in an Ethiopian
por: Tsegaw, Asamere, et al.
Publicado: (2021)

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
por: Zobor, Ditta, et al.
Publicado: (2023)

Bardet-Biedl and Alström syndromes in Spain
por: Valverde, D, et al.
Publicado: (2012)

Bardet–Biedl syndrome: beyond the cilium
por: Tobin, Jonathan L., et al.
Publicado: (2007)

Kidney failure in Bardet–Biedl syndrome
por: Meyer, Jennifer R., et al.
Publicado: (2022)

Bardet–Biedl Syndrome Presenting in Adulthood
por: Ankleshwaria, Chinmay, et al.
Publicado: (2022)

Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns
por: Kortuem, Friederike C., et al.
Publicado: (2022)

Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions
por: Righetti, Giulia, et al.
Publicado: (2021)

Managing Bardet–Biedl Syndrome—Now and in the Future
por: Forsythe, Elizabeth, et al.
Publicado: (2018)

A rare case of Bardet–Biedl syndrome
por: Shrinkhal,, et al.
Publicado: (2019)

Laurence-moon-biedl-bardet syndrome: An overview
por: Rissardo, Jamir Pitton, et al.
Publicado: (2020)

Bardet–Biedl syndrome: a case series
por: Elawad, Omer Ali Mohamed Ahmed, et al.
Publicado: (2022)

Bangladeshi Case Series of Bardet–Biedl Syndrome
por: Osman, Fariah, et al.
Publicado: (2023)

Laurence-Moon-Bardet Biedl Syndrome With Cholelithiasis
por: Kaleem, Safa, et al.
Publicado: (2023)

Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome
por: Forsythe, E, et al.
Publicado: (2015)

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
por: Chiu, Cynthia S., et al.
Publicado: (2015)

Bardet-Biedl Syndrome with End Stage Renal Disease
por: Parakh, Rajendrakumar, et al.
Publicado: (2016)

Reproduction Function in Male Patients With Bardet Biedl Syndrome
por: Koscinski, Isabelle, et al.
Publicado: (2020)

Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes
por: Smyczynska, Urszula, et al.
Publicado: (2022)

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
por: Melluso, Andrea, et al.
Publicado: (2023)

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
por: Ullah, Asmat, et al.
Publicado: (2017)

Visual Evoked Potentials Used to Evaluate a Commercially Available Superabsorbent Polymer as a Cheap and Efficient Material for Preparation-Free Electrodes for Recording Electrical Potentials of the Human Visual Cortex
por: Straßer, Torsten, et al.
Publicado: (2019)

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
por: Gupta, Neha, et al.
Publicado: (2022)

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
por: Bodenbender, Jan-Philipp, et al.
Publicado: (2023)

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations
por: Stingl, Krunoslav T., et al.
Publicado: (2019)

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
por: Seo, Seongjin, et al.
Publicado: (2009)

Visual acuity and retinal function in patients with Bardet-Biedl syndrome
por: Berezovsky, Adriana, et al.
Publicado: (2012)

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins
por: Starks, Rachel D., et al.
Publicado: (2015)

Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome
por: Singh, K. K., et al.
Publicado: (2015)

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
por: Priya, Sathya, et al.
Publicado: (2016)

The Laurence-Moon-Bardet-Biedl Syndrome. Report of Two Cases
por: Rao, K. Someswara
Publicado: (1950)

A rare case of obesity. Can it be Bardet‐Biedl Syndrome?
por: Shrestha, Sandeep, et al.
Publicado: (2019)

Toni Mochty: Bardet Biedl syndrome “avant la lettre”
por: de Herder, Wouter
Publicado: (2020)

Laurence-Moon-Bardet-Biedl Syndrome: A Case Report
por: Khan, Bilal Ahmed, et al.
Publicado: (2019)

Erratum to: “Reproduction Function in Male Patients With Bardet Biedl Syndrome”
Publicado: (2020)

Prenatal diagnosis of Bardet Biedl Syndrome: A case report
por: Arora, Ena, et al.
Publicado: (2022)

Bardet-Biedl syndrome: The longer we miss, the worse is the outcome
por: Edwar, Michael, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_hdqjbspscar95qr4fn105e51a3