Literature DB >> 30369365

[Joubert syndrome caused by INPP5E mutations: report of a family].

Fang Chen1, Su-Zhen Sun, Hong-Xia Tang, Rong-Pin Li, Wei Wang, Kang Liu, Ya-Kun DU.   

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Year:  2018        PMID： 30369365      PMCID： PMC7389035     

Source DB:  PubMed          Journal:  Zhongguo Dang Dai Er Ke Za Zhi        ISSN： 1008-8830


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  12 in total

1.  [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].

Authors:  Yanhua Su; Jiansheng Xie; Shanshan Yu; Hongyu Luo; Weiqing Wu; Zhiyong Xu
Journal:  Zhonghua Er Ke Za Zhi       Date:  2015-06

2.  Mutations in CSPP1 lead to classical Joubert syndrome.

Authors:  Naiara Akizu; Jennifer L Silhavy; Rasim Ozgur Rosti; Eric Scott; Ali G Fenstermaker; Jana Schroth; Maha S Zaki; Henry Sanchez; Neerja Gupta; Madhulika Kabra; Majdi Kara; Tawfeg Ben-Omran; Basak Rosti; Alicia Guemez-Gamboa; Emily Spencer; Roger Pan; Na Cai; Mostafa Abdellateef; Stacey Gabriel; Jan Halbritter; Friedhelm Hildebrandt; Hans van Bokhoven; Murat Gunel; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2013-12-19       Impact factor: 11.025

3.  Mechanism and dynamics of INPP5E transport into and inside the ciliary compartment.

Authors:  Stefanie Kristine Kösling; Eyad Kalawy Fansa; Stefano Maffini; Alfred Wittinghofer
Journal:  Biol Chem       Date:  2018-02-23       Impact factor: 3.915

4.  Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Authors:  M Joubert; J J Eisenring; J P Robb; F Andermann
Journal:  Neurology       Date:  1969-09       Impact factor: 9.910

5.  A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.

Authors:  Mitesh Shetty; Nimmy Ramdas; Shubhi Sahni; Nandita Mullapudi; Sridevi Hegde
Journal:  Mol Syndromol       Date:  2017-09-08

6.  [Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation].

Authors:  C Meng; K H Zhang; J Ma; X Gao; K Yu; H Y Zhang; Y Wang; Z X Zhang; W G Li; Y Liu; Z T Gai
Journal:  Zhonghua Er Ke Za Zhi       Date:  2017-02-02

Review 7.  Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

Authors:  Christian de Goede; Wyatt W Yue; Guanhua Yan; Shyamala Ariyaratnam; Kate E Chandler; Laura Downes; Nasaim Khan; Meyyammai Mohan; Martin Lowe; Siddharth Banka
Journal:  Eur J Paediatr Neurol       Date:  2015-12-18       Impact factor: 3.140

Review 8.  Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Authors:  Marta Romani; Alessia Micalizzi; Enza Maria Valente
Journal:  Lancet Neurol       Date:  2013-07-17       Impact factor: 44.182

Review 9.  Joubert syndrome: a review.

Authors:  J M Saraiva; M Baraitser
Journal:  Am J Med Genet       Date:  1992-07-01

10.  Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Authors:  Heon Yung Gee; Edgar A Otto; Toby W Hurd; Shazia Ashraf; Moumita Chaki; Andrew Cluckey; Virginia Vega-Warner; Pawaree Saisawat; Katrina A Diaz; Humphrey Fang; Stefan Kohl; Susan J Allen; Rannar Airik; Weibin Zhou; Gokul Ramaswami; Sabine Janssen; Clementine Fu; Jamie L Innis; Stefanie Weber; Udo Vester; Erica E Davis; Nicholas Katsanis; Hanan M Fathy; Nikola Jeck; Gunther Klaus; Ahmet Nayir; Khawla A Rahim; Ibrahim Al Attrach; Ibrahim Al Hassoun; Savas Ozturk; Dorota Drozdz; Udo Helmchen; John F O'Toole; Massimo Attanasio; Richard A Lewis; Gudrun Nürnberg; Peter Nürnberg; Joseph Washburn; James MacDonald; Jeffrey W Innis; Shawn Levy; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2013-11-20       Impact factor: 10.612
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