Literature DB >> 12471214

Behavioural phenotype of Bardet-Biedl syndrome.

S Barnett, S Reilly, L Carr, I Ojo, P L Beales, T Charman.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 12471214      PMCID： PMC1757216          DOI： 10.1136/jmg.39.12.e76

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  14 in total

1.  Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Authors:  Susan J Moore; Jane S Green; Yanli Fan; Ashvinder K Bhogal; Elizabeth Dicks; Bridget A Fernandez; Mark Stefanelli; Christopher Murphy; Benvon C Cramer; John C S Dean; Philip L Beales; Nicholas Katsanis; Anne S Bassett; William S Davidson; Patrick S Parfrey
Journal:  Am J Med Genet A       Date:  2005-02-01       Impact factor: 2.802

2.  Characterization of Functional Primary Cilia in Human Induced Pluripotent Stem Cell-Derived Neurons.

Authors:  Daisuke Miki; Yuki Kobayashi; Tomoya Okada; Tatuso Miyamoto; Nobuyuki Takei; Yuko Sekino; Noriko Koganezawa; Tomoaki Shirao; Yumiko Saito
Journal:  Neurochem Res       Date:  2019-04-29       Impact factor: 3.996

3.  Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins.

Authors:  Jacqueline S Domire; Jill A Green; Kirsten G Lee; Andrew D Johnson; Candice C Askwith; Kirk Mykytyn
Journal:  Cell Mol Life Sci       Date:  2010-12-09       Impact factor: 9.261

4.  Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Authors:  Danielle D Brinckman; Kim M Keppler-Noreuil; Catherine Blumhorst; Leslie G Biesecker; Julie C Sapp; Jennifer J Johnston; Edythe A Wiggs
Journal:  Am J Med Genet A       Date:  2013-11-05       Impact factor: 2.802

5.  Autism: a rare presentation of Bardet-Biedl syndrome.

Authors:  Seshadri Sekhar Chatterjee; Prathama Guha; Arunansu Talukdar; Gargi Dasgupta
Journal:  BMJ Case Rep       Date:  2014-06-04

6.  BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.

Authors:  Qihong Zhang; Darryl Nishimura; Tim Vogel; Jianqiang Shao; Ruth Swiderski; Terry Yin; Charles Searby; Calvin S Carter; Gunhee Kim; Kevin Bugge; Edwin M Stone; Val C Sheffield
Journal:  J Cell Sci       Date:  2013-04-09       Impact factor: 5.285

7.  Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Authors:  Erica R Eichers; Muhammad M Abd-El-Barr; Richard Paylor; Richard Alan Lewis; Weimin Bi; Xiaodi Lin; Thomas P Meehan; David W Stockton; Samuel M Wu; Elizabeth Lindsay; Monica J Justice; Philip L Beales; Nicholas Katsanis; James R Lupski
Journal:  Hum Genet       Date:  2006-06-23       Impact factor: 4.132

8.  TRIM32 is an E3 ubiquitin ligase for dysbindin.

Authors:  Matthew Locke; Caroline L Tinsley; Matthew A Benson; Derek J Blake
Journal:  Hum Mol Genet       Date:  2009-04-06       Impact factor: 6.150

9.  Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.

Authors:  Khristofor Agassandian; Milan Patel; Marianna Agassandian; Karina E Steren; Kamal Rahmouni; Val C Sheffield; J Patrick Card
Journal:  PLoS One       Date:  2014-04-02       Impact factor: 3.240

10.  [Etiologic profile of severe and profound sensorineural hearing loss in children in the region of north-central Morocco].

Authors:  Mohammed Ridal; Naouar Outtasi; Zainab Taybi; Redouan Boulouiz; Sanae Chaouki; Meryem Boubou; Mustapha Maaroufi; Najib Benmansour; Zouheir Zaki; Karim Ouldim; Hamid Barakat; Mustapha Hida; Siham Tizniti; Mohamed Noreddine El Alami
Journal:  Pan Afr Med J       Date:  2014-02-08
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.