630 related articles for article (PubMed ID: 19410201)
1. Ciliary defects and genetics of primary ciliary dyskinesia.
Escudier E; Duquesnoy P; Papon JF; Amselem S
Paediatr Respir Rev; 2009 Jun; 10(2):51-4. PubMed ID: 19410201
[TBL] [Abstract][Full Text] [Related]
2. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT; Antony D; Maver A; Deardorff MA; Güleç EY; Gezdirici A; Nöthe-Menchen T; Höben IM; Jelten L; Frank D; Werner C; Tebbe J; Wu K; Goldmuntz E; Čuturilo G; Krock B; Ritter A; Hjeij R; Bakey Z; Pennekamp P; Dworniczak B; Brunner H; Peterlin B; Tanidir C; Olbrich H; Omran H; Schmidts M
Am J Hum Genet; 2018 Dec; 103(6):995-1008. PubMed ID: 30471718
[TBL] [Abstract][Full Text] [Related]
3. Genetic defects in ciliary structure and function.
Zariwala MA; Knowles MR; Omran H
Annu Rev Physiol; 2007; 69():423-50. PubMed ID: 17059358
[TBL] [Abstract][Full Text] [Related]
4. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Fassad MR; Shoemark A; Legendre M; Hirst RA; Koll F; le Borgne P; Louis B; Daudvohra F; Patel MP; Thomas L; Dixon M; Burgoyne T; Hayes J; Nicholson AG; Cullup T; Jenkins L; Carr SB; Aurora P; Lemullois M; Aubusson-Fleury A; Papon JF; O'Callaghan C; Amselem S; Hogg C; Escudier E; Tassin AM; Mitchison HM
Am J Hum Genet; 2018 Dec; 103(6):984-994. PubMed ID: 30471717
[TBL] [Abstract][Full Text] [Related]
5. Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.
Storm van's Gravesande K; Omran H
Ann Med; 2005; 37(6):439-49. PubMed ID: 16203616
[TBL] [Abstract][Full Text] [Related]
6. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
Fliegauf M; Olbrich H; Horvath J; Wildhaber JH; Zariwala MA; Kennedy M; Knowles MR; Omran H
Am J Respir Crit Care Med; 2005 Jun; 171(12):1343-9. PubMed ID: 15750039
[TBL] [Abstract][Full Text] [Related]
7. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.
Olbrich H; Horváth J; Fekete A; Loges NT; Storm van's Gravesande K; Blum A; Hörmann K; Omran H
Pediatr Res; 2006 Mar; 59(3):418-22. PubMed ID: 16492982
[TBL] [Abstract][Full Text] [Related]
8. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
Bartoloni L; Blouin JL; Maiti AK; Sainsbury A; Rossier C; Gehrig C; She JX; Marron MP; Lander ES; Meeks M; Chung E; Armengot M; Jorissen M; Scott HS; Delozier-Blanchet CD; Gardiner RM; Antonarakis SE
Genomics; 2001 Feb; 72(1):21-33. PubMed ID: 11247663
[TBL] [Abstract][Full Text] [Related]
9. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M; Bartoloni L; Letourneau A; Munoz A; Falconnet E; Rossier C; de Santi MM; Santamaria F; Sacco O; DeLozier-Blanchet CD; Lazor R; Blouin JL
J Med Genet; 2009 Apr; 46(4):281-6. PubMed ID: 19357118
[TBL] [Abstract][Full Text] [Related]
10. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Knowles MR; Leigh MW; Carson JL; Davis SD; Dell SD; Ferkol TW; Olivier KN; Sagel SD; Rosenfeld M; Burns KA; Minnix SL; Armstrong MC; Lori A; Hazucha MJ; Loges NT; Olbrich H; Becker-Heck A; Schmidts M; Werner C; Omran H; Zariwala MA;
Thorax; 2012 May; 67(5):433-41. PubMed ID: 22184204
[TBL] [Abstract][Full Text] [Related]
11. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR; Ostrowski LE; Loges NT; Hurd T; Leigh MW; Huang L; Wolf WE; Carson JL; Hazucha MJ; Yin W; Davis SD; Dell SD; Ferkol TW; Sagel SD; Olivier KN; Jahnke C; Olbrich H; Werner C; Raidt J; Wallmeier J; Pennekamp P; Dougherty GW; Hjeij R; Gee HY; Otto EA; Halbritter J; Chaki M; Diaz KA; Braun DA; Porath JD; Schueler M; Baktai G; Griese M; Turner EH; Lewis AP; Bamshad MJ; Nickerson DA; Hildebrandt F; Shendure J; Omran H; Zariwala MA
Am J Hum Genet; 2013 Oct; 93(4):711-20. PubMed ID: 24055112
[TBL] [Abstract][Full Text] [Related]
12. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
Zariwala M; Noone PG; Sannuti A; Minnix S; Zhou Z; Leigh MW; Hazucha M; Carson JL; Knowles MR
Am J Respir Cell Mol Biol; 2001 Nov; 25(5):577-83. PubMed ID: 11713099
[TBL] [Abstract][Full Text] [Related]
13. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
Pennarun G; Escudier E; Chapelin C; Bridoux AM; Cacheux V; Roger G; Clément A; Goossens M; Amselem S; Duriez B
Am J Hum Genet; 1999 Dec; 65(6):1508-19. PubMed ID: 10577904
[TBL] [Abstract][Full Text] [Related]
14. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT; Olbrich H; Fenske L; Mussaffi H; Horvath J; Fliegauf M; Kuhl H; Baktai G; Peterffy E; Chodhari R; Chung EM; Rutman A; O'Callaghan C; Blau H; Tiszlavicz L; Voelkel K; Witt M; Zietkiewicz E; Neesen J; Reinhardt R; Mitchison HM; Omran H
Am J Hum Genet; 2008 Nov; 83(5):547-58. PubMed ID: 18950741
[TBL] [Abstract][Full Text] [Related]
15. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Blanchon S; Legendre M; Bottier M; Tamalet A; Montantin G; Collot N; Faucon C; Dastot F; Copin B; Clement A; Filoche M; Coste A; Amselem S; Escudier E; Papon JF; Louis B
J Med Genet; 2020 Apr; 57(4):237-244. PubMed ID: 31772028
[TBL] [Abstract][Full Text] [Related]
16. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.
Moore A; Escudier E; Roger G; Tamalet A; Pelosse B; Marlin S; Clément A; Geremek M; Delaisi B; Bridoux AM; Coste A; Witt M; Duriez B; Amselem S
J Med Genet; 2006 Apr; 43(4):326-33. PubMed ID: 16055928
[TBL] [Abstract][Full Text] [Related]
17. Genetic causes of bronchiectasis: primary ciliary dyskinesia.
Morillas HN; Zariwala M; Knowles MR
Respiration; 2007; 74(3):252-63. PubMed ID: 17534128
[TBL] [Abstract][Full Text] [Related]
18. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
Rocca MS; Piatti G; Michelucci A; Guazzo R; Bertini V; Vinanzi C; Caligo MA; Valetto A; Foresta C
BMC Med Genet; 2020 Nov; 21(1):220. PubMed ID: 33167880
[TBL] [Abstract][Full Text] [Related]
19. DNAI1 mutations explain only 2% of primary ciliary dykinesia.
Failly M; Saitta A; Muñoz A; Falconnet E; Rossier C; Santamaria F; de Santi MM; Lazor R; DeLozier-Blanchet CD; Bartoloni L; Blouin JL
Respiration; 2008; 76(2):198-204. PubMed ID: 18434704
[TBL] [Abstract][Full Text] [Related]
20. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.
Omran H; Häffner K; Völkel A; Kuehr J; Ketelsen UP; Ross UH; Konietzko N; Wienker T; Brandis M; Hildebrandt F
Am J Respir Cell Mol Biol; 2000 Nov; 23(5):696-702. PubMed ID: 11062149
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
