Literature DB >> 15805161

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

A M Sharp, L M Messiaen, G Page, C Antignac, M-C Gubler, L F Onuchic, S Somlo, G G Germino, L M Guay-Woodford.   

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Year:  2005        PMID： 15805161      PMCID： PMC1736033          DOI： 10.1136/jmg.2004.024489

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


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  39 in total

1.  Autosomal recessive polycystic kidney disease: the importance of autopsy of suspected cases and genetic counselling.

Authors:  Rana K Sherwani; Amit Kumar; Khaliqur Rahman; Tamkin Rabbani
Journal:  BMJ Case Rep       Date:  2010-09-09

2.  Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.

Authors:  Meral Gunay-Aygun; Ellis D Avner; Robert L Bacallao; Peter L Choyke; Joseph T Flynn; Gregory G Germino; Lisa Guay-Woodford; Peter Harris; Theo Heller; Julie Ingelfinger; Frederick Kaskel; Robert Kleta; Nicholas F LaRusso; Parvathi Mohan; Gregory J Pazour; Benjamin L Shneider; Vicente E Torres; Patricia Wilson; Colleen Zak; Jing Zhou; William A Gahl
Journal:  J Pediatr       Date:  2006-08       Impact factor: 4.406

3.  Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Authors:  Tamás Szabó; Petronella Orosz; Eszter Balogh; Eszter Jávorszky; István Máttyus; Csaba Bereczki; Zoltán Maróti; Tibor Kalmár; Attila J Szabó; George Reusz; Ildikó Várkonyi; Erzsébet Marián; Éva Gombos; Orsolya Orosz; László Madar; György Balla; János Kappelmayer; Kálmán Tory; István Balogh
Journal:  Pediatr Nephrol       Date:  2018-06-28       Impact factor: 3.714

Review 4.  Diagnosis and management of childhood polycystic kidney disease.

Authors:  William E Sweeney; Ellis D Avner
Journal:  Pediatr Nephrol       Date:  2010-10-29       Impact factor: 3.714

5.  Posterior reversible encephalopathy syndrome in a uremic patient with autosomal recessive polycystic kidney disease.

Authors:  Tadashi Yoshida; Ken Hiratsuka; Maho Yamashita; Ayumi Matsui; Matsuhiko Hayashi
Journal:  CEN Case Rep       Date:  2015-04-01

6.  A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.

Authors:  Patricia Outeda; Luis Menezes; Erum A Hartung; Stacey Bridges; Fang Zhou; Xianjun Zhu; Hangxue Xu; Qiong Huang; Qin Yao; Feng Qian; Gregory G Germino; Terry Watnick
Journal:  Kidney Int       Date:  2017-07-18       Impact factor: 10.612

7.  Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Authors:  Miguel A Garcia-Gonzalez; Jeffrey G Jones; Susan K Allen; Christopher M Palatucci; Sat D Batish; William K Seltzer; Zheng Lan; Erica Allen; Feng Qian; Xose M Lens; York Pei; Gregory G Germino; Terry J Watnick
Journal:  Mol Genet Metab       Date:  2007-06-18       Impact factor: 4.797

8.  Polyductin undergoes notch-like processing and regulated release from primary cilia.

Authors:  Jun-ya Kaimori; Yasuyuki Nagasawa; Luis F Menezes; Miguel A Garcia-Gonzalez; Jie Deng; Enyu Imai; Luiz F Onuchic; Lisa M Guay-Woodford; Gregory G Germino
Journal:  Hum Mol Genet       Date:  2007-04-15       Impact factor: 6.150

9.  Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

Authors:  Yong-Qing Tong; Bei Liu; Chao-Hong Fu; Hong-Yun Zheng; Jian Gu; Hang Liu; Hong-Bo Luo; Yan Li
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2016-10-18

10.  Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.

Authors:  Anna-Rachel Gallagher; Ernie L Esquivel; Tiffany S Briere; Xin Tian; Michihiro Mitobe; Luis F Menezes; Glen S Markowitz; Dhanpat Jain; Luiz F Onuchic; Stefan Somlo
Journal:  Am J Pathol       Date:  2008-01-17       Impact factor: 4.307
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