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6. DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. Emiralioglu N; Wallmeier J; Olbrich H; Omran H; Ozcelik U Clin Respir J; 2018 Mar; 12(3):1017-1020. PubMed ID: 28257607 [TBL] [Abstract][Full Text] [Related]
7. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Badiner N; Taylor SP; Forlenza K; Lachman RS; ; Bamshad M; Nickerson D; Cohn DH; Krakow D Clin Genet; 2017 Aug; 92(2):158-165. PubMed ID: 27925158 [TBL] [Abstract][Full Text] [Related]
8. Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in Stembalska A; Rydzanicz M; Klaniewska M; Dudarewicz L; Pollak A; Biela M; Stawinski P; Ploski R; Smigiel R Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 35893076 [TBL] [Abstract][Full Text] [Related]
9. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Halbritter J; Bizet AA; Schmidts M; Porath JD; Braun DA; Gee HY; McInerney-Leo AM; Krug P; Filhol E; Davis EE; Airik R; Czarnecki PG; Lehman AM; Trnka P; Nitschké P; Bole-Feysot C; Schueler M; Knebelmann B; Burtey S; Szabó AJ; Tory K; Leo PJ; Gardiner B; McKenzie FA; Zankl A; Brown MA; Hartley JL; Maher ER; Li C; Leroux MR; Scambler PJ; Zhan SH; Jones SJ; Kayserili H; Tuysuz B; Moorani KN; Constantinescu A; Krantz ID; Kaplan BS; Shah JV; ; Hurd TW; Doherty D; Katsanis N; Duncan EL; Otto EA; Beales PL; Mitchison HM; Saunier S; Hildebrandt F Am J Hum Genet; 2013 Nov; 93(5):915-25. PubMed ID: 24140113 [TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. Biswas P; Duncan JL; Maranhao B; Kozak I; Branham K; Gabriel L; Lin JH; Barteselli G; Navani M; Suk J; Parke M; Schlechter C; Weleber RG; Heckenlively JR; Dagnelie G; Lee P; Riazuddin SA; Ayyagari R Physiol Genomics; 2017 Apr; 49(4):216-229. PubMed ID: 28130426 [TBL] [Abstract][Full Text] [Related]
11. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Niceta M; Margiotti K; Digilio MC; Guida V; Bruselles A; Pizzi S; Ferraris A; Memo L; Laforgia N; Dentici ML; Consoli F; Torrente I; Ruiz-Perez VL; Dallapiccola B; Marino B; De Luca A; Tartaglia M Clin Genet; 2018 Mar; 93(3):632-639. PubMed ID: 28857138 [TBL] [Abstract][Full Text] [Related]
12. A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Oestreich MA; Keller F; Bovermann X; Braun D; Schiller R; Raio L; Zweier C; Casaulta C; Usemann J; Kidszun A; Popa-Todirenchi MH Klin Padiatr; 2024 Feb; 236(2):145-147. PubMed ID: 38224688 [No Abstract] [Full Text] [Related]
13. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Tucker BA; Scheetz TE; Mullins RF; DeLuca AP; Hoffmann JM; Johnston RM; Jacobson SG; Sheffield VC; Stone EM Proc Natl Acad Sci U S A; 2011 Aug; 108(34):E569-76. PubMed ID: 21825139 [TBL] [Abstract][Full Text] [Related]
17. Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene. Čechová A; Baxová A; Zeman J; Lambert L; Honzík T; Leiská A; Čunát V; Tesařová M Prague Med Rep; 2019; 120(4):124-130. PubMed ID: 31935347 [TBL] [Abstract][Full Text] [Related]
18. Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis. Cheng C; Li X; Zhao S; Feng Q; Ren X; Chen X BMC Med Genomics; 2022 Mar; 15(1):55. PubMed ID: 35277174 [TBL] [Abstract][Full Text] [Related]
19. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Caparrós-Martín JA; De Luca A; Cartault F; Aglan M; Temtamy S; Otaify GA; Mehrez M; Valencia M; Vázquez L; Alessandri JL; Nevado J; Rueda-Arenas I; Heath KE; Digilio MC; Dallapiccola B; Goodship JA; Mill P; Lapunzina P; Ruiz-Perez VL Hum Mol Genet; 2015 Jul; 24(14):4126-37. PubMed ID: 25908617 [TBL] [Abstract][Full Text] [Related]
20. Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. Branham K; Matsui H; Biswas P; Guru AA; Hicks M; Suk JJ; Li H; Jakubosky D; Long T; Telenti A; Nariai N; Heckenlively JR; Frazer KA; Sieving PA; Ayyagari R Physiol Genomics; 2016 Dec; 48(12):922-927. PubMed ID: 27764769 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]