Literature DB >> 23403901

Clinical utility gene card for: Joubert syndrome--update 2013.

Enza Maria Valente1, Francesco Brancati, Eugen Boltshauser, Bruno Dallapiccola.   

Abstract

Mesh：

Year:  2013        PMID： 23403901      PMCID： PMC3778348          DOI： 10.1038/ejhg.2013.10

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  3 in total

Review 1.  Joubert Syndrome and related disorders.

Authors:  Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2010-07-08       Impact factor: 4.123

Review 2.  Genotypes and phenotypes of Joubert syndrome and related disorders.

Authors:  Enza Maria Valente; Francesco Brancati; Bruno Dallapiccola
Journal:  Eur J Med Genet       Date:  2007-11-23       Impact factor: 2.708

Review 3.  The role of primary cilia in neuronal function.

Authors:  Jeong Ho Lee; Joseph G Gleeson
Journal:  Neurobiol Dis       Date:  2010-01-22       Impact factor: 5.996
  3 in total
  10 in total

1.  Joubert syndrome: genotyping a Northern European patient cohort.

Authors:  Hester Y Kroes; Glen R Monroe; Bert van der Zwaag; Karen J Duran; Carolien G de Kovel; Mark J van Roosmalen; Magdalena Harakalova; Ies J Nijman; Wigard P Kloosterman; Rachel H Giles; Nine V A M Knoers; Gijs van Haaften
Journal:  Eur J Hum Genet       Date:  2015-04-29       Impact factor: 4.246

2.  Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

Authors:  Chihiro Ohba; Hitoshi Osaka; Mizue Iai; Sumimasa Yamashita; Yume Suzuki; Noriko Aida; Nobuyuki Shimozawa; Ayumi Takamura; Hiroshi Doi; Atsuko Tomita-Katsumoto; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Yoshikatsu Eto; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Neurogenetics       Date:  2013-10-04       Impact factor: 2.660

3.  DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

Authors:  Gisela G Slaats; Joshua C Saldivar; Julien Bacal; Michelle K Zeman; Andrew C Kile; Ann Marie Hynes; Shalabh Srivastava; Jekaterina Nazmutdinova; Krista den Ouden; Miriam S Zagers; Veronica Foletto; Marianne C Verhaar; Colin Miles; John A Sayer; Karlene A Cimprich; Rachel H Giles
Journal:  J Clin Invest       Date:  2015-08-24       Impact factor: 14.808

4.  Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.

Authors:  Shingo Koyama; Hidenori Sato; Manabu Wada; Toru Kawanami; Mitsuru Emi; Takeo Kato
Journal:  BMC Med Genet       Date:  2017-03-27       Impact factor: 2.103

Review 5.  Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Authors:  Kao-Jung Chang; Hsin-Yu Wu; Aliaksandr A Yarmishyn; Cheng-Yi Li; Yu-Jer Hsiao; Yi-Chun Chi; Tzu-Chen Lo; He-Jhen Dai; Yi-Chiang Yang; Ding-Hao Liu; De-Kuang Hwang; Shih-Jen Chen; Chih-Chien Hsu; Chung-Lan Kao
Journal:  Int J Mol Sci       Date:  2022-08-26       Impact factor: 6.208

6.  Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Authors:  Brian P Brooks; Wadih M Zein; Amy H Thompson; Maryam Mokhtarzadeh; Daniel A Doherty; Melissa Parisi; Ian A Glass; May C Malicdan; Thierry Vilboux; Meghana Vemulapalli; James C Mullikin; William A Gahl; Meral Gunay-Aygun
Journal:  Ophthalmology       Date:  2018-07-25       Impact factor: 12.079

7.  Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.

Authors:  Simon Ramsbottom; Colin Miles; John Sayer
Journal:  F1000Res       Date:  2015-08-20

Review 8.  Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences.

Authors:  M Albert Basson; Richard J Wingate
Journal:  Front Neuroanat       Date:  2013-09-03       Impact factor: 3.856

9.  Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Authors:  Simon A Ramsbottom; Elisa Molinari; Shalabh Srivastava; Flora Silberman; Charline Henry; Sumaya Alkanderi; Laura A Devlin; Kathryn White; David H Steel; Sophie Saunier; Colin G Miles; John A Sayer
Journal:  Proc Natl Acad Sci U S A       Date:  2018-11-16       Impact factor: 11.205

10.  A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Authors:  Shalabh Srivastava; Simon A Ramsbottom; Elisa Molinari; Sumaya Alkanderi; Andrew Filby; Kathryn White; Charline Henry; Sophie Saunier; Colin G Miles; John A Sayer
Journal:  Hum Mol Genet       Date:  2017-12-01       Impact factor: 6.150
  10 in total

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