525 related articles for article (PubMed ID: 25619595)
1. CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
Sui W; Hou X; Che W; Ou M; Sun G; Huang S; Liu F; Chen P; Wei X; Dai Y
Clin Respir J; 2016 Sep; 10(5):614-21. PubMed ID: 25619595
[TBL] [Abstract][Full Text] [Related]
2. [Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].
Wang K; Chen X; Guo CY; Liu FQ; Wang JR; Sun LF
Zhonghua Er Ke Za Zhi; 2018 Feb; 56(2):134-137. PubMed ID: 29429202
[No Abstract] [Full Text] [Related]
3. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
Blanchon S; Legendre M; Copin B; Duquesnoy P; Montantin G; Kott E; Dastot F; Jeanson L; Cachanado M; Rousseau A; Papon JF; Beydon N; Brouard J; Crestani B; Deschildre A; Désir J; Dollfus H; Leheup B; Tamalet A; Thumerelle C; Vojtek AM; Escalier D; Coste A; de Blic J; Clément A; Escudier E; Amselem S
J Med Genet; 2012 Jun; 49(6):410-6. PubMed ID: 22693285
[TBL] [Abstract][Full Text] [Related]
4. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D; Becker-Heck A; Zariwala MA; Schmidts M; Onoufriadis A; Forouhan M; Wilson R; Taylor-Cox T; Dewar A; Jackson C; Goggin P; Loges NT; Olbrich H; Jaspers M; Jorissen M; Leigh MW; Wolf WE; Daniels ML; Noone PG; Ferkol TW; Sagel SD; Rosenfeld M; Rutman A; Dixit A; O'Callaghan C; Lucas JS; Hogg C; Scambler PJ; Emes RD; ; Chung EM; Shoemark A; Knowles MR; Omran H; Mitchison HM
Hum Mutat; 2013 Mar; 34(3):462-72. PubMed ID: 23255504
[TBL] [Abstract][Full Text] [Related]
5. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
Shapiro AJ; Leigh MW
Ultrastruct Pathol; 2017; 41(6):373-385. PubMed ID: 28915070
[TBL] [Abstract][Full Text] [Related]
6. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore DJ; Onoufriadis A; Shoemark A; Simpson MA; zur Lage PI; de Castro SC; Bartoloni L; Gallone G; Petridi S; Woollard WJ; Antony D; Schmidts M; Didonna T; Makrythanasis P; Bevillard J; Mongan NP; Djakow J; Pals G; Lucas JS; Marthin JK; Nielsen KG; Santoni F; Guipponi M; Hogg C; Antonarakis SE; Emes RD; Chung EM; Greene ND; Blouin JL; Jarman AP; Mitchison HM
Am J Hum Genet; 2013 Aug; 93(2):346-56. PubMed ID: 23891471
[TBL] [Abstract][Full Text] [Related]
7. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Onoufriadis A; Shoemark A; Munye MM; James CT; Schmidts M; Patel M; Rosser EM; Bacchelli C; Beales PL; Scambler PJ; Hart SL; Danke-Roelse JE; Sloper JJ; Hull S; Hogg C; Emes RD; Pals G; Moore AT; Chung EM; ; Mitchison HM
J Med Genet; 2014 Jan; 51(1):61-7. PubMed ID: 24203976
[TBL] [Abstract][Full Text] [Related]
8. CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia.
Liu L; Zhou K; Song Y; Liu X
Medicine (Baltimore); 2021 Dec; 100(51):e28275. PubMed ID: 34941110
[TBL] [Abstract][Full Text] [Related]
9. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
Jeanson L; Thomas L; Copin B; Coste A; Sermet-Gaudelus I; Dastot-Le Moal F; Duquesnoy P; Montantin G; Collot N; Tissier S; Papon JF; Clement A; Louis B; Escudier E; Amselem S; Legendre M
Hum Mutat; 2016 Aug; 37(8):776-85. PubMed ID: 27120127
[TBL] [Abstract][Full Text] [Related]
10. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E; Thomas L; Jeanson L; Bequignon E; Vallette B; Duquesnoy P; Montantin G; Copin B; Dastot-Le Moal F; Blanchon S; Papon JF; Lorès P; Yuan L; Collot N; Tissier S; Faucon C; Gacon G; Patrat C; Wolf JP; Dulioust E; Crestani B; Escudier E; Coste A; Legendre M; Touré A; Amselem S
Am J Hum Genet; 2016 Aug; 99(2):489-500. PubMed ID: 27486783
[TBL] [Abstract][Full Text] [Related]
11. Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia.
Zhou L; Li Z; Du C; Chen C; Sun Y; Gu L; Zhou F; Song Y
Mol Med Rep; 2020 Dec; 22(6):4707-4715. PubMed ID: 33174003
[TBL] [Abstract][Full Text] [Related]
12. Clinical and Genetic Analysis of Children with Kartagener Syndrome.
Pereira R; Barbosa T; Gales L; Oliveira E; Santos R; Oliveira J; Sousa M
Cells; 2019 Aug; 8(8):. PubMed ID: 31443223
[TBL] [Abstract][Full Text] [Related]
13. Biallelic Variants in
Shi X; Geng H; Yu H; Hu X; Wang G; Yang J; Zhao H
Biomed Res Int; 2022; 2022():7130555. PubMed ID: 35795318
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
Davis SD; Ferkol TW; Rosenfeld M; Lee HS; Dell SD; Sagel SD; Milla C; Zariwala MA; Pittman JE; Shapiro AJ; Carson JL; Krischer JP; Hazucha MJ; Cooper ML; Knowles MR; Leigh MW
Am J Respir Crit Care Med; 2015 Feb; 191(3):316-24. PubMed ID: 25493340
[TBL] [Abstract][Full Text] [Related]
16. Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
Kano G; Tsujii H; Takeuchi K; Nakatani K; Ikejiri M; Ogawa S; Kubo H; Nagao M; Fujisawa T
Mol Med Rep; 2016 Dec; 14(6):5077-5083. PubMed ID: 27779714
[TBL] [Abstract][Full Text] [Related]
17. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Olbrich H; Schmidts M; Werner C; Onoufriadis A; Loges NT; Raidt J; Banki NF; Shoemark A; Burgoyne T; Al Turki S; Hurles ME; ; Köhler G; Schroeder J; Nürnberg G; Nürnberg P; Chung EM; Reinhardt R; Marthin JK; Nielsen KG; Mitchison HM; Omran H
Am J Hum Genet; 2012 Oct; 91(4):672-84. PubMed ID: 23022101
[TBL] [Abstract][Full Text] [Related]
18. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
Guichard C; Harricane MC; Lafitte JJ; Godard P; Zaegel M; Tack V; Lalau G; Bouvagnet P
Am J Hum Genet; 2001 Apr; 68(4):1030-5. PubMed ID: 11231901
[TBL] [Abstract][Full Text] [Related]
19. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck A; Zohn IE; Okabe N; Pollock A; Lenhart KB; Sullivan-Brown J; McSheene J; Loges NT; Olbrich H; Haeffner K; Fliegauf M; Horvath J; Reinhardt R; Nielsen KG; Marthin JK; Baktai G; Anderson KV; Geisler R; Niswander L; Omran H; Burdine RD
Nat Genet; 2011 Jan; 43(1):79-84. PubMed ID: 21131974
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
