PubMed for id: 57545

Year	Number of Results
1993	2
2000	1
2002	1
2003	2
2004	1
2005	1
2006	1
2008	5
2009	2
2010	3
2011	4
2012	3
2014	1
2015	2
2016	1
2017	3
2018	1
2019	2
2020	3
2021	4
2022	1
2023	2
2024	0

1

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Cabrita Pinto RL, Viaggi S, Canale E, Martinez Popple M, Capra V, Conteduca G, Testa B, Coviello D, Covone AE. Cabrita Pinto RL, et al. Genes (Basel). 2023 Mar 28;14(4):810. doi: 10.3390/genes14040810. Genes (Basel). 2023. PMID: 37107568 Free PMC article.

2

New insights into CC2D2A-related Joubert syndrome.

Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078

3

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

Khan MI, Latif M, Saif M, Ahmad H, Khan AU, Naseer MI, Hussain HMJ, Jelani M. Khan MI, et al. J Gene Med. 2021 Jan;23(1):e3279. doi: 10.1002/jgm.3279. Epub 2020 Oct 27. J Gene Med. 2021. PMID: 32989887

4

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.

Méjécase C, Hummel A, Mohand-Saïd S, Andrieu C, El Shamieh S, Antonio A, Condroyer C, Boyard F, Foussard M, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Zeitz C, Audo I. Méjécase C, et al. Clin Genet. 2019 Feb;95(2):329-333. doi: 10.1111/cge.13453. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30267408

5

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Takenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2017 May;173(5):1353-1357. doi: 10.1002/ajmg.a.38167. Epub 2017 Apr 4. Am J Med Genet A. 2017. PMID: 28374938

6

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.

Al-Hamed MH, Kurdi W, Alsahan N, Alabdullah Z, Abudraz R, Tulbah M, Alnemer M, Khan R, Al-Jurayb H, Alahmed A, Tahir AI, Khalil D, Edwards N, Al Abdulaziz B, Binhumaid FS, Majid S, Faquih T, El-Kalioby M, Abouelhoda M, Altassan N, Monies D, Meyer B, Sayer JA, Albaqumi M. Al-Hamed MH, et al. J Med Genet. 2016 May;53(5):338-47. doi: 10.1136/jmedgenet-2015-103469. Epub 2016 Feb 9. J Med Genet. 2016. PMID: 26862157 Free PMC article.

7

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.

8

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M. Tallila J, et al. Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004. Am J Hum Genet. 2008. PMID: 18513680 Free PMC article.

9

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. Noor A, et al. Am J Hum Genet. 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021. Am J Hum Genet. 2008. PMID: 18387594 Free PMC article.

10

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA. Barroso-Gil M, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1603. doi: 10.1002/mgg3.1603. Epub 2021 Jan 24. Mol Genet Genomic Med. 2021. PMID: 33486889 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

32 results

Results by year