Literature DB >> 31089940

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.

Antony Terance Benjamin1, Ram Ganesh1, Balan Louis Gaspar2, Jane Lucas3, Claire Jackson3, Marie Legendre4, Rahma Mani4, Estelle Escudier4.   

Abstract

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Year:  2019        PMID： 31089940     DOI： 10.1007/s12098-019-02970-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Authors:  Tamara Paff; Irsan E Kooi; Youssef Moutaouakil; Elise Riesebos; Erik A Sistermans; Hans J M A Daniels; Janneke M M Weiss; Hans H W M Niessen; Eric G Haarman; Gerard Pals; Dimitra Micha
Journal:  Hum Mutat       Date:  2018-03-09       Impact factor: 4.878

2.  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

Review 3.  Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.

Authors:  Michael R Knowles; Leigh Anne Daniels; Stephanie D Davis; Maimoona A Zariwala; Margaret W Leigh
Journal:  Am J Respir Crit Care Med       Date:  2013-10-15       Impact factor: 21.405

4.  European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.

Authors:  Jane S Lucas; Angelo Barbato; Samuel A Collins; Myrofora Goutaki; Laura Behan; Daan Caudri; Sharon Dell; Ernst Eber; Estelle Escudier; Robert A Hirst; Claire Hogg; Mark Jorissen; Philipp Latzin; Marie Legendre; Margaret W Leigh; Fabio Midulla; Kim G Nielsen; Heymut Omran; Jean-Francois Papon; Petr Pohunek; Beatrice Redfern; David Rigau; Bernhard Rindlisbacher; Francesca Santamaria; Amelia Shoemark; Deborah Snijders; Thomy Tonia; Andrea Titieni; Woolf T Walker; Claudius Werner; Andrew Bush; Claudia E Kuehni
Journal:  Eur Respir J       Date:  2017-01-04       Impact factor: 16.671

5.  PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia.

Authors:  Laura Behan; Borislav D Dimitrov; Claudia E Kuehni; Claire Hogg; Mary Carroll; Hazel J Evans; Myrofora Goutaki; Amanda Harris; Samantha Packham; Woolf T Walker; Jane S Lucas
Journal:  Eur Respir J       Date:  2016-02-25       Impact factor: 16.671
  5 in total
  1 in total

1.  A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia.

Authors:  Rahma Mani; JihèNe Bouguila; Salma Ben Ameur; Mongia Hachicha; Zohra Soua; Imed Mabrouk
Journal:  J Genet       Date:  2020       Impact factor: 1.166
  1 in total

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