Literature DB >> 14985390

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.

D Jeganathan, R Chodhari, M Meeks, O Faeroe, D Smyth, K Nielsen, I Amirav, A S Luder, H Bisgaard, R M Gardiner, E M K Chung, H M Mitchison.   

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Year:  2004        PMID： 14985390      PMCID： PMC1735711          DOI： 10.1136/jmg.2003.014084

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


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  17 in total

1.  Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

Authors:  M Geremek; E Zietkiewicz; S R Diehl; B Z Alizadeh; C Wijmenga; M Witt
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

2.  Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Authors:  Masha Mazor; Soliman Alkrinawi; Vered Chalifa-Caspi; Esther Manor; Val C Sheffield; Micha Aviram; Ruti Parvari
Journal:  Am J Hum Genet       Date:  2011-04-14       Impact factor: 11.025

3.  Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

Authors:  Heike Olbrich; Miriam Schmidts; Claudius Werner; Alexandros Onoufriadis; Niki T Loges; Johanna Raidt; Nora Fanni Banki; Amelia Shoemark; Tom Burgoyne; Saeed Al Turki; Matthew E Hurles; Gabriele Köhler; Josef Schroeder; Gudrun Nürnberg; Peter Nürnberg; Eddie M K Chung; Richard Reinhardt; June K Marthin; Kim G Nielsen; Hannah M Mitchison; Heymut Omran
Journal:  Am J Hum Genet       Date:  2012-09-27       Impact factor: 11.025

4.  Radial spoke proteins of Chlamydomonas flagella.

Authors:  Pinfen Yang; Dennis R Diener; Chun Yang; Takahiro Kohno; Gregory J Pazour; Jennifer M Dienes; Nathan S Agrin; Stephen M King; Winfield S Sale; Ritsu Kamiya; Joel L Rosenbaum; George B Witman
Journal:  J Cell Sci       Date:  2006-02-28       Impact factor: 5.285

5.  Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

Authors:  G J Pazour; N Agrin; B L Walker; G B Witman
Journal:  J Med Genet       Date:  2005-06-03       Impact factor: 6.318

6.  Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population.

Authors:  Jónrit Halling; Maria S Petersen; Per Damkier; Flemming Nielsen; Philippe Grandjean; Pál Weihe; Stefan Lundgren; Mia Sandberg Lundblad; Kim Brøsen
Journal:  Eur J Clin Pharmacol       Date:  2005-07-16       Impact factor: 2.953

7.  A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

Authors:  Bénédicte Duriez; Philippe Duquesnoy; Estelle Escudier; Anne-Marie Bridoux; Denise Escalier; Isabelle Rayet; Elisabeth Marcos; Anne-Marie Vojtek; Jean-François Bercher; Serge Amselem
Journal:  Proc Natl Acad Sci U S A       Date:  2007-02-20       Impact factor: 11.205

8.  Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.

Authors:  Orit Reish; Montgomery Slatkin; Daphne Chapman-Shimshoni; Arnon Elizur; Barry Chioza; Victoria Castleman; Hannah M Mitchison
Journal:  Ann Hum Genet       Date:  2010-01-08       Impact factor: 1.670

9.  Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Authors:  Jillian P Casey; Paul A McGettigan; Fiona Healy; Claire Hogg; Alison Reynolds; Breandan N Kennedy; Sean Ennis; Dubhfeasa Slattery; Sally A Lynch
Journal:  Eur J Hum Genet       Date:  2014-05-14       Impact factor: 4.246

10.  Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Authors:  Victoria H Castleman; Leila Romio; Rahul Chodhari; Robert A Hirst; Sandra C P de Castro; Keith A Parker; Patricia Ybot-Gonzalez; Richard D Emes; Stephen W Wilson; Colin Wallis; Colin A Johnson; Rene J Herrera; Andrew Rutman; Mellisa Dixon; Amelia Shoemark; Andrew Bush; Claire Hogg; R Mark Gardiner; Orit Reish; Nicholas D E Greene; Christopher O'Callaghan; Saul Purton; Eddie M K Chung; Hannah M Mitchison
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025
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