Cargando…

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

Bardet–Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal r...

Descripción completa

Detalles Bibliográficos
Autores principales:	González-del Pozo, María, Méndez-Vidal, Cristina, Santoyo-Lopez, Javier, Vela-Boza, Alicia, Bravo-Gil, Nereida, Rueda, Antonio, García-Alonso, Luz, Vázquez-Marouschek, Carmen, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley Periodicals, Inc. 2014
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960054/ https://www.ncbi.nlm.nih.gov/pubmed/24689075 http://dx.doi.org/10.1002/mgg3.50

Ejemplares similares

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
por: Pozo, María González-del, et al.
Publicado: (2014)

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
por: Méndez-Vidal, Cristina, et al.
Publicado: (2013)

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
por: Méndez-Vidal, Cristina, et al.
Publicado: (2014)

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

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)

Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing
por: Xing, Dong-Jun, et al.
Publicado: (2014)

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
por: Bravo-Gil, Nereida, et al.
Publicado: (2016)

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping
por: Pereiro, Ines, et al.
Publicado: (2010)

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
por: Tous, Cristina, et al.
Publicado: (2023)

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)

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
por: Dopazo, Joaquín, et al.
Publicado: (2016)

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)

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)

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
por: Xin-Yi, Zou, et al.
Publicado: (2023)

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
por: Ajmal, Muhammad, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_6bprklbe7lu4i8el3sup291i9o