Similar articles for PMID: 15368503

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1

Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.

Takamine Y, Krejci P, Mekikian PB, Wilcox WR. Takamine Y, et al. Am J Med Genet A. 2004 Sep 15;130A(1):96-7. doi: 10.1002/ajmg.a.20579. Am J Med Genet A. 2004. PMID: 15368503 No abstract available.

2

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.

3

SRPS associated protein WDR60 regulates the multipolar-to-bipolar transition of migrating neurons during cortical development.

Li C, Zheng Y, Zheng Y, Xu Z. Li C, et al. Cell Death Dis. 2021 Jan 12;12(1):75. doi: 10.1038/s41419-020-03363-3. Cell Death Dis. 2021. PMID: 33436552 Free PMC article.

4

Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene.

Mhatre S, Muranjan M, Karande S. Mhatre S, et al. J Postgrad Med. 2020 Oct-Dec;66(4):224-225. doi: 10.4103/jpgm.JPGM_4_20. J Postgrad Med. 2020. PMID: 33037165 Free PMC article. No abstract available.

5

Oral and craniofacial manifestations of Ellis-Van Creveld syndrome: a systematic review.

Lauritano D, Attuati S, Besana M, Rodilosso G, Quinzi V, Marzo G, Carinci F. Lauritano D, et al. Eur J Paediatr Dent. 2019 Dec;20(4):306-310. doi: 10.23804/ejpd.2019.20.04.09. Eur J Paediatr Dent. 2019. PMID: 31850774

6

Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene.

He Y, Li YJ, Xu LL, Li DZ. He Y, et al. J Obstet Gynaecol. 2020 Aug;40(6):874-876. doi: 10.1080/01443615.2019.1655722. Epub 2019 Oct 14. J Obstet Gynaecol. 2020. PMID: 31609148 No abstract available.

7

Ellis-van Creveld syndrome in a patient from Tanzania.

Dekker MCJ, Sadiq AM, Jusabani MA, Mdavire VJ, Baas F, Morton DH, Hamel BCJ. Dekker MCJ, et al. Am J Med Genet A. 2019 Oct;179(10):2034-2038. doi: 10.1002/ajmg.a.61309. Epub 2019 Jul 26. Am J Med Genet A. 2019. PMID: 31350806

8

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.

Ajmi H, Ruiz Perez VL, Hassayoun S, Mabrouk S, Mahdoui S, Boughzela E, Zouari N, Abroug S. Ajmi H, et al. Int J Pediatr Adolesc Med. 2015 Sep-Dec;2(3-4):161-165. doi: 10.1016/j.ijpam.2015.08.004. Epub 2015 Nov 21. Int J Pediatr Adolesc Med. 2015. PMID: 30805457 Free PMC article.

9

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Bizaoui V, Huber C, Kohaut E, Roume J, Bonnière M, Attié-Bitach T, Cormier-Daire V. Bizaoui V, et al. Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14. Am J Med Genet A. 2019. PMID: 30767363

10

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Boujtat K, Rouf S, Boutahar I, Skiker I, Tajir M, Latrech H. Boujtat K, et al. Pediatr Endocrinol Rev. 2018 Dec;16(2):275-283. doi: 10.17458/per.vol16.2018.ellisvananddandywaler. Pediatr Endocrinol Rev. 2018. PMID: 30556660

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