Similar articles for PMID: 25398053

Year	Number of Results
1957	2
1962	1
1963	1
1970	1
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1998	2
2000	3
2002	3
2003	2
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2016	13
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2018	13
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2022	7
2023	3
2024	1

1

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.

Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Boyden LM, et al. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14. J Invest Dermatol. 2015. PMID: 25398053 Free PMC article.

2

Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.

Duchatelet S, Hovnanian A. Duchatelet S, et al. J Invest Dermatol. 2015 Jun;135(6):1475-1478. doi: 10.1038/jid.2014.535. J Invest Dermatol. 2015. PMID: 25964267 Free article.

3

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.

Li C, Liang J, Chen P, Zeng K, Xue R, Tian X, Liang L, Wang Q, Shi M, Zhang X. Li C, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e670. doi: 10.1002/mgg3.670. Epub 2019 Mar 29. Mol Genet Genomic Med. 2019. PMID: 30924322 Free PMC article.

4

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Jamsheer A, Sowińska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bieleńska A. Jamsheer A, et al. Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6. Gene. 2014. PMID: 24508941

5

[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].

Zeng H, Xie L, Tang M, Yang Y, Tan Z. Zeng H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):268-271. doi: 10.3760/cma.j.issn.1003-9406.2018.02.028. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29653008 Chinese.

6

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.

Lucaciu SA, Shao Q, Figliuzzi R, Barr K, Bai D, Laird DW. Lucaciu SA, et al. Int J Mol Sci. 2022 Jan 1;23(1):486. doi: 10.3390/ijms23010486. Int J Mol Sci. 2022. PMID: 35008913 Free PMC article.

7

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. Hu Y, et al. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013. PLoS One. 2013. PMID: 23951358 Free PMC article.

8

Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.

Dwarakanathan A, Bhat M, Gn S, Shetty S. Dwarakanathan A, et al. Clin Dysmorphol. 2015 Oct;24(4):159-62. doi: 10.1097/MCD.0000000000000094. Clin Dysmorphol. 2015. PMID: 26087145 No abstract available.

9

Two novel GJA1 variants in oculodentodigital dysplasia.

Pace NP, Benoit V, Agius D, Grima MA, Parascandalo R, Hilbert P, Borg I. Pace NP, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e882. doi: 10.1002/mgg3.882. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347275 Free PMC article. Clinical Trial.

10

Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43.

Kogame T, Dainichi T, Shimomura Y, Tanioka M, Kabashima K, Miyachi Y. Kogame T, et al. J Dermatol. 2014 Dec;41(12):1095-7. doi: 10.1111/1346-8138.12682. Epub 2014 Nov 12. J Dermatol. 2014. PMID: 25388818

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