PubMed for id: 79659

Year	Number of Results
1993	1
1994	1
1996	2
1997	2
1998	1
2002	4
2003	1
2004	1
2005	1
2006	2
2008	1
2009	4
2010	2
2011	3
2012	2
2013	3
2014	5
2015	12
2016	5
2017	2
2018	6
2019	10
2020	3
2021	6
2022	6
2023	5
2024	0

1

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.

2

Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.

Xia CL, Xiao SQ, Yang X, Liu CX, Qiu H, Jiang HK, Li-Ling J, Lyu Y. Xia CL, et al. Mol Med Rep. 2021 Jun;23(6):426. doi: 10.3892/mmr.2021.12065. Epub 2021 Apr 13. Mol Med Rep. 2021. PMID: 33846808

3

DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.

Lee J, Lee H, Lee YM, Kuht HJ, Thomas MG, Kim SJ, Lee ST, Han J. Lee J, et al. Clin Genet. 2021 Jul;100(1):111-113. doi: 10.1111/cge.13958. Epub 2021 Mar 23. Clin Genet. 2021. PMID: 33755199 No abstract available.

4

Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.

Thakur S, Gupta R, Bansal D, Singh C, Agarwal D, Saxena KK. Thakur S, et al. Clin Genet. 2021 Jun;99(6):853-854. doi: 10.1111/cge.13953. Epub 2021 Mar 11. Clin Genet. 2021. PMID: 33694158 No abstract available.

5

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.

6

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. Čechová A, et al. Prague Med Rep. 2019;120(4):124-130. doi: 10.14712/23362936.2019.17. Prague Med Rep. 2019. PMID: 31935347 Free article.

7

Acquired temozolomide resistance in MGMT-deficient glioblastoma cells is associated with regulation of DNA repair by DHC2.

Yi GZ, Huang G, Guo M, Zhang X, Wang H, Deng S, Li Y, Xiang W, Chen Z, Pan J, Li Z, Yu L, Lei B, Liu Y, Qi S. Yi GZ, et al. Brain. 2019 Aug 1;142(8):2352-2366. doi: 10.1093/brain/awz202. Brain. 2019. PMID: 31347685 Free PMC article.

8

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.

Deng L, Cheung SW, Schmitt ES, Xiong S, Yuan M, Chen Z, Chen L, Sun L. Deng L, et al. Birth Defects Res. 2018 Mar 1;110(4):364-371. doi: 10.1002/bdr2.1146. Epub 2018 Jan 23. Birth Defects Res. 2018. PMID: 29359448

9

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; University of Washington Center for Mendelian Genomics; Bamshad M, Nickerson D, Cohn DH, Krakow D. Badiner N, et al. Clin Genet. 2017 Aug;92(2):158-165. doi: 10.1111/cge.12947. Epub 2017 Mar 13. Clin Genet. 2017. PMID: 27925158 Free PMC article.

10

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing.

Chen LS, Shi SJ, Zou PS, Ma M, Chen XH, Cao DH. Chen LS, et al. Genet Mol Res. 2016 Jun 3;15(2). doi: 10.4238/gmr.15028134. Genet Mol Res. 2016. PMID: 27323140 Free article.

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