Literature DB >> 29133352

Primary ciliary dyskinesia: keep it on your radar.

Margaret Rosenfeld1, Lawrence E Ostrowski2,3, Maimoona A Zariwala4.   

Abstract

Entities:  

Keywords:  paediatric lung disaese

Mesh：

Year:  2017        PMID： 29133352      PMCID： PMC6040643          DOI： 10.1136/thoraxjnl-2017-210776

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


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  15 in total

1.  High prevalence of primary ciliary dyskinesia in a British Asian population.

Authors:  C O'Callaghan; P Chetcuti; E Moya
Journal:  Arch Dis Child       Date:  2009-08-30       Impact factor: 3.791

2.  The oligomeric outer dynein arm assembly factor CCDC103 is tightly integrated within the ciliary axoneme and exhibits periodic binding to microtubules.

Authors:  Stephen M King; Ramila S Patel-King
Journal:  J Biol Chem       Date:  2015-01-08       Impact factor: 5.157

3.  Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

Authors:  Elma El Khouri; Lucie Thomas; Ludovic Jeanson; Emilie Bequignon; Benoit Vallette; Philippe Duquesnoy; Guy Montantin; Bruno Copin; Florence Dastot-Le Moal; Sylvain Blanchon; Jean François Papon; Patrick Lorès; Li Yuan; Nathalie Collot; Sylvie Tissier; Catherine Faucon; Gérard Gacon; Catherine Patrat; Jean Philippe Wolf; Emmanuel Dulioust; Bruno Crestani; Estelle Escudier; André Coste; Marie Legendre; Aminata Touré; Serge Amselem
Journal:  Am J Hum Genet       Date:  2016-08-04       Impact factor: 11.025

4.  Variant Interpretation: Functional Assays to the Rescue.

Authors:  Lea M Starita; Nadav Ahituv; Maitreya J Dunham; Jacob O Kitzman; Frederick P Roth; Georg Seelig; Jay Shendure; Douglas M Fowler
Journal:  Am J Hum Genet       Date:  2017-09-07       Impact factor: 11.025

Review 5.  Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis.

Authors:  Adam J Shapiro; Maureen Josephson; Margaret Rosenfeld; Ozge Yilmaz; Stephanie D Davis; Deepika Polineni; Elena Guadagno; Margaret W Leigh; Valery Lavergne
Journal:  Ann Am Thorac Soc       Date:  2017-07

6.  Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.

Authors:  Christine Edelbusch; Sandra Cindrić; Gerard W Dougherty; Niki T Loges; Heike Olbrich; Joseph Rivlin; Julia Wallmeier; Petra Pennekamp; Israel Amirav; Heymut Omran
Journal:  Hum Mutat       Date:  2017-06-15       Impact factor: 4.878

7.  Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

Authors:  Thomas W Ferkol; Erik G Puffenberger; Hauw Lie; Cynthia Helms; Kevin A Strauss; Anne Bowcock; John L Carson; Milan Hazucha; D Holmes Morton; Anand C Patel; Margaret W Leigh; Michael R Knowles; Maimoona A Zariwala
Journal:  J Pediatr       Date:  2013-03-07       Impact factor: 4.406

8.  Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.

Authors:  Margaret W Leigh; Thomas W Ferkol; Stephanie D Davis; Hye-Seung Lee; Margaret Rosenfeld; Sharon D Dell; Scott D Sagel; Carlos Milla; Kenneth N Olivier; Kelli M Sullivan; Maimoona A Zariwala; Jessica E Pittman; Adam J Shapiro; Johnny L Carson; Jeffrey Krischer; Milan J Hazucha; Michael R Knowles
Journal:  Ann Am Thorac Soc       Date:  2016-08

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

Authors:  Tamara Paff; Niki T Loges; Isabella Aprea; Kaman Wu; Zeineb Bakey; Eric G Haarman; Johannes M A Daniels; Erik A Sistermans; Natalija Bogunovic; Gerard W Dougherty; Inga M Höben; Jörg Große-Onnebrink; Anja Matter; Heike Olbrich; Claudius Werner; Gerard Pals; Miriam Schmidts; Heymut Omran; Dimitra Micha
Journal:  Am J Hum Genet       Date:  2016-12-29       Impact factor: 11.025
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  3 in total

1.  Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene.

Authors:  Badriah G Alasmari; Muhammad Saeed; Mohammed A Alomari; Mohammad Alsumaili; Ali M Tahir
Journal:  Cureus       Date:  2022-08-27

2.  A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.

Authors:  Maria Santa Rocca; Gioia Piatti; Angela Michelucci; Raffaella Guazzo; Veronica Bertini; Cinzia Vinanzi; Maria Adelaide Caligo; Angelo Valetto; Carlo Foresta
Journal:  BMC Med Genet       Date:  2020-11-10       Impact factor: 2.103

3.  Dysplasia of the fibrous sheath with axonemal and centriolar defects combined with lack of mitochondrial activity as associated factors of ICSI failure in primary ciliary dyskinesia syndrome.

Authors:  Juliana R Pariz; Caroline Rané; Joel Drevet; Jorge Hallak
Journal:  Int Braz J Urol       Date:  2021 May-Jun       Impact factor: 1.541
  3 in total

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