Literature DB >> 7158637

Hepatic involvement in the Bardet-Biedl syndrome.

R A Pagon, J E Haas, A H Bunt, K A Rodaway.   

Abstract

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Year:  1982        PMID： 7158637     DOI： 10.1002/ajmg.1320130405

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  5 in total

1.  Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Authors:  Jiwon M Lee; Yo Han Ahn; Hee Gyung Kang; I I Soo Ha; Kyoungbun Lee; Kyung Chul Moon; Joo Hoon Lee; Young Seo Park; Yong Mee Cho; Jun-Seok Bae; Nayoung K D Kim; Woong-Yang Park; Hae I I Cheong
Journal:  Pediatr Nephrol       Date:  2015-03-01       Impact factor: 3.714

Review 2.  Liver and kidney disease in ciliopathies.

Authors:  Meral Gunay-Aygun
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

3.  Hepatorenal fibrocystic diseases in children.

Authors:  Eujin Park; Jiwon M Lee; Yo Han Ahn; Hee Gyung Kang; I I Soo Ha; Joo Hoon Lee; Young Seo Park; Nayoung K D Kim; Woong-Yang Park; Hae Ii Cheong
Journal:  Pediatr Nephrol       Date:  2015-08-11       Impact factor: 3.714

4.  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

5.  Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.

Authors:  Kentaro Horiuchi; Tomomi Kogiso; Takaomi Sagawa; Taito Ito; Makiko Taniai; Kenichiro Miura; Motoshi Hattori; Naoya Morisada; Etsuko Hashimoto; Katsutoshi Tokushige
Journal:  Intern Med       Date:  2020-11-01       Impact factor: 1.271
  5 in total

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