Literature DB >> 24611592

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

M Álvarez-Satta1, S Castro-Sánchez, I Pereiro, T Piñeiro-Gallego, M Baiget, C Ayuso, D Valverde.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24611592     DOI： 10.1111/cge.12334

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  10 in total

Review 1.  Bardet-Biedl Syndrome.

Authors:  Evgeny N Suspitsin; Evgeny N Imyanitov
Journal:  Mol Syndromol       Date:  2016-04-15

Review 2.  Genetic Determinants of Childhood Obesity.

Authors:  Sheridan H Littleton; Robert I Berkowitz; Struan F A Grant
Journal:  Mol Diagn Ther       Date:  2020-10-01       Impact factor: 4.074

Review 3.  Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).

Authors:  María Álvarez-Satta; Sheila Castro-Sánchez; Diana Valverde
Journal:  Front Mol Biosci       Date:  2017-07-31

4.  Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

Authors:  María Álvarez-Satta; Sheila Castro-Sánchez; Guillermo Pousada; Diana Valverde
Journal:  J Cell Mol Med       Date:  2017-05-13       Impact factor: 5.310

5.  Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

Authors:  Sheila Castro-Sánchez; María Álvarez-Satta; Mohamed A Tohamy; Sergi Beltran; Sophia Derdak; Diana Valverde
Journal:  PLoS One       Date:  2017-08-11       Impact factor: 3.240

6.  A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

Authors:  Gabriel A Guardiola; Fabiola Ramos; Natalio J Izquierdo; Armando L Oliver
Journal:  Clin Ophthalmol       Date:  2021-09-07

7.  Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Authors:  Irene Perea-Romero; Carlos Solarat; Fiona Blanco-Kelly; Iker Sanchez-Navarro; Brais Bea-Mascato; Eduardo Martin-Salazar; Isabel Lorda-Sanchez; Saoud Tahsin Swafiri; Almudena Avila-Fernandez; Inmaculada Martin-Merida; Maria Jose Trujillo-Tiebas; Ester Carreño; Belen Jimenez-Rolando; Blanca Garcia-Sandoval; Pablo Minguez; Marta Corton; Diana Valverde; Carmen Ayuso
Journal:  NPJ Genom Med       Date:  2022-07-14       Impact factor: 6.083

8.  Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Authors:  Iker Sanchez-Navarro; Luciana R J da Silva; Fiona Blanco-Kelly; Olga Zurita; Noelia Sanchez-Bolivar; Cristina Villaverde; Maria Isabel Lopez-Molina; Blanca Garcia-Sandoval; Saoud Tahsin-Swafiri; Pablo Minguez; Rosa Riveiro-Alvarez; Isabel Lorda; Rocío Sanchez-Alcudia; Raquel Perez-Carro; Diana Valverde; Yichuan Liu; Lifeng Tian; Hakon Hakonarson; Almudena Avila-Fernandez; Marta Corton; Carmen Ayuso
Journal:  Sci Rep       Date:  2018-03-27       Impact factor: 4.379

9.  Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Authors:  Monika K Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L Vincent; Tomas S Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P Leroy; Jason T Maynes; Francis L Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-12-01       Impact factor: 4.799

Review 10.  Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.

Authors:  Laura Florea; Lavinia Caba; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-08-29       Impact factor: 4.096
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.