Literature DB >> 15689444

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini.   

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Year:  2005        PMID： 15689444      PMCID： PMC1735997          DOI： 10.1136/jmg.2004.027375

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


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  34 in total

Review 1.  Novel approaches to studying the genetic basis of cerebellar development.

Authors:  Samin A Sajan; Kathryn E Waimey; Kathleen J Millen
Journal:  Cerebellum       Date:  2010-09       Impact factor: 3.847

Review 2.  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

3.  AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Authors:  M A Parisi; D Doherty; M L Eckert; D W W Shaw; H Ozyurek; S Aysun; O Giray; A Al Swaid; S Al Shahwan; N Dohayan; E Bakhsh; O S Indridason; W B Dobyns; C L Bennett; P F Chance; I A Glass
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

4.  Diffusion tensor imaging in Joubert syndrome.

Authors:  A Poretti; E Boltshauser; T Loenneker; E M Valente; F Brancati; K Il'yasov; T A G M Huisman
Journal:  AJNR Am J Neuroradiol       Date:  2007-09-26       Impact factor: 3.825

5.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

6.  RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Authors:  F Brancati; L Travaglini; D Zablocka; E Boltshauser; P Accorsi; G Montagna; J L Silhavy; G Barrano; E Bertini; F Emma; L Rigoli; B Dallapiccola; J G Gleeson; E M Valente
Journal:  Clin Genet       Date:  2008-06-28       Impact factor: 4.438

7.  Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Authors:  Lorena Travaglini; Francesco Brancati; Jennifer Silhavy; Miriam Iannicelli; Elizabeth Nickerson; Nadia Elkhartoufi; Eric Scott; Emily Spencer; Stacey Gabriel; Sophie Thomas; Bruria Ben-Zeev; Enrico Bertini; Eugen Boltshauser; Malika Chaouch; Maria Roberta Cilio; Mirjam M de Jong; Hulya Kayserili; Gonul Ogur; Andrea Poretti; Sabrina Signorini; Graziella Uziel; Maha S Zaki; Colin Johnson; Tania Attié-Bitach; Joseph G Gleeson; Enza Maria Valente
Journal:  Eur J Hum Genet       Date:  2013-02-06       Impact factor: 4.246

Review 8.  Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Authors:  Dan Doherty
Journal:  Semin Pediatr Neurol       Date:  2009-09       Impact factor: 1.636

9.  Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.

Authors:  Neil A Duldulao; Sunjin Lee; Zhaoxia Sun
Journal:  Development       Date:  2009-12       Impact factor: 6.868

10.  Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Authors:  Luis E Kolb; Zulfikar Arlier; Cengiz Yalcinkaya; Ali K Ozturk; Jennifer A Moliterno; Ozdem Erturk; Fatih Bayrakli; Baris Korkmaz; Michael L DiLuna; Katsuhito Yasuno; Kaya Bilguvar; Tayfun Ozcelik; Beyhan Tuysuz; Matthew W State; Murat Gunel
Journal:  Neurogenetics       Date:  2010-01-15       Impact factor: 2.660
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