Cargando…

Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome

Detalles Bibliográficos
Autores principales:	Kamme, Christina, Mayer, Anja Kathrin, Strom, Tim M., Andréasson, Sten, Weisschuh, Nicole
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412861/ https://www.ncbi.nlm.nih.gov/pubmed/27879052 http://dx.doi.org/10.1111/aos.13293

Ejemplares similares

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

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

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

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

Laurence-Moon-Biedl Syndrome
por: Nandi, A. K.
Publicado: (1949)

Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population
por: Khan, Omair A, et al.
Publicado: (2019)

Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review
por: Kumar, Aneel, et al.
Publicado: (2020)

Nystagmus in Laurence-Moon-Biedl Syndrome
por: Janati, A. Bruce, et al.
Publicado: (2015)

Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children
por: Thadchanamoorthy, Vijayakumary, et al.
Publicado: (2021)

Commentary: Retinitis pigmentosa in Laurence–Moon–Bardet–Biedl syndrome: Genomic sequencing, gene therapy, and gene editing
por: Bansal, Mayank
Publicado: (2022)

LAURENCE-MOON-BIEDL SYNDROME WITH SCHIZOPHRENIA (A CASE REPORT)
por: Jain, K. C., et al.
Publicado: (1981)

Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
por: Qadar, Laila Tul, et al.
Publicado: (2019)

Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II
por: Parameswarappa, Deepika C, et al.
Publicado: (2022)

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

Anaesthetic management of a patient with Laurence Moon Biedl syndrome undergoing ostium primum atrial septal defect closure
por: Dhulkhed, Vithal K., et al.
Publicado: (2013)

A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
por: Guardiola, Gabriel A, et al.
Publicado: (2021)

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

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
por: Nasser, Fadi, et al.
Publicado: (2022)

Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype–Phenotype Correlations
por: Florea, Laura, 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)

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
por: Sloboda, Natacha, et al.
Publicado: (2022)

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)

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)

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
por: González-del Pozo, María, et al.
Publicado: (2014)

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)

Crohn’s Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?
por: Zuidhof, Margot L., et al.
Publicado: (2023)

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

Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles
por: Volz, Ann-Kathrin, et al.
Publicado: (2021)

Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype
por: Catrinoiu, D, et al.
Publicado: (2009)

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)

Cannot write session to /tmp/vufind_sessions/sess_dm5tsajfbn28m13pa85alab4rk