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Chondroectodermal Syndrome.
Jan AU, Ahmad S, Cheema TA, Ullah F, Waqar M, Hussain B. Jan AU, et al. J Ayub Med Coll Abbottabad. 2018 Jul-Sep;30(3):473-475. J Ayub Med Coll Abbottabad. 2018. PMID: 30465389 Free article.
Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van Creveld in 1940. ...
Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Ri …
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (CED) phenotypes. To identify new genes and define the spectrum of mutation …
These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-v …
Enterovirus detection in stool samples from Mozambican children with acute gastroenteritis.
Bero DM, da Silva EE, Júnior IPS, Nhassengo SA, Machado RS, Bauhofer AFL, Chilaúle JJ, Munlela B, Guimarães E, Cossa-Moiane I, Sambo J, Anapakala E, Cassocera M, Coutinho-Manhique L, Chissaque A, Langa JS, Burlandy F, de Deus N. Bero DM, et al. Acta Trop. 2023 Feb;238:106755. doi: 10.1016/j.actatropica.2022.106755. Epub 2022 Nov 12. Acta Trop. 2023. PMID: 36379257
A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.
Wang J, Wang X, Jia Y, Li X, Liu G, Sa R, Yu H. Wang J, et al. Mol Genet Genomic Med. 2023 Aug;11(8):e2183. doi: 10.1002/mgg3.2183. Epub 2023 May 9. Mol Genet Genomic Med. 2023. PMID: 37157924 Free PMC article.
BACKGROUND: Ellis-van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical phenotype is highly diverse. EvC syndrome is rarely reported in prenatal stages because its presentation overlaps with other diseases. …
BACKGROUND: Ellis-van Creveld (EvC) syndrome, caused by variants in EVC, is a rare genetic skeletal dysplasia. Its clinical ph …
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
Thomas DC, Moorthy JD, Prabhakar V, Ajayakumar A, Pitchumani PK. Thomas DC, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):36-46. doi: 10.1002/ajmg.c.31969. Epub 2022 Apr 8. Am J Med Genet C Semin Med Genet. 2022. PMID: 35393766 Review.
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The syndrome is caused by mutations in the EVC gene on chromosome 4p16, and EVC2 gene, located clos …
Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 gene …
Genetic Factors Involved in Mandibular Prognathism.
Doraczynska-Kowalik A, Nelke KH, Pawlak W, Sasiadek MM, Gerber H. Doraczynska-Kowalik A, et al. J Craniofac Surg. 2017 Jul;28(5):e422-e431. doi: 10.1097/SCS.0000000000003627. J Craniofac Surg. 2017. PMID: 28570402 Review.
The following appear among candidate genes: MATN1, EPB41, growth hormone receptor, COL2A1, COL1A1, MYO1H, DUSP6, ARHGAP21, ADAMTS1, FGF23, FGFR2, TBX5, ALPL, HSPG2, EVC, EVC2, the HoxC gene cluster, insulin-like growth factor 1, PLXNA2, SSX2IP, TGFB3, LTBP2, MMP13/CLG3, KR …
The following appear among candidate genes: MATN1, EPB41, growth hormone receptor, COL2A1, COL1A1, MYO1H, DUSP6, ARHGAP21, ADAMTS1, FGF23, F …
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T; Clinical Contributors; Cormier-Daire V. Aubert-Mucca M, et al. J Med Genet. 2023 Apr;60(4):337-345. doi: 10.1136/jmg-2022-108435. Epub 2022 Aug 4. J Med Genet. 2023. PMID: 35927022
METHODS: The aim of this study was the analysis of 50 clinically identified EVC cases from 45 families to further define the phenotype and molecular bases of EVC. ...CONCLUSION: We confirmed that EVC and EVC2 are the major genes involved in the EVC phe …
METHODS: The aim of this study was the analysis of 50 clinically identified EVC cases from 45 families to further define the phenotyp …
Identification of previously untypable RD cell line isolates and detection of EV-A71 genotype C1 in a child with AFP in Nigeria.
Adewumi OM, Faleye TOC, Okeowo CO, Oladapo AM, Oyathelemhi J, Olaniyi OA, Isola OC, Adeniji JA. Adewumi OM, et al. Pathog Glob Health. 2018 Dec;112(8):421-427. doi: 10.1080/20477724.2018.1548117. Epub 2018 Nov 26. Pathog Glob Health. 2018. PMID: 30474520 Free PMC article.
These belong to 11 EV (one EVA, nine EVB and one EVC) types which were EVA71 genotype C1 (1 strain), CVB3 (7 strains), CVB5 (1 strain), E5 (2 strain), E11 (3 strains), E13 (2 strain), E19 (1 strain), E20 (1 strain), E24 (2 strains), EVB75 (1 strain) and EVC99 (2 strains). …
These belong to 11 EV (one EVA, nine EVB and one EVC) types which were EVA71 genotype C1 (1 strain), CVB3 (7 strains), CVB5 (1 strain …
Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.
León-Madero LF, Fregoso-Ron CH, De León-Carbajal JC, Valdés-Miranda JM. León-Madero LF, et al. Mol Genet Genomic Med. 2024 May;12(5):e2451. doi: 10.1002/mgg3.2451. Mol Genet Genomic Med. 2024. PMID: 38760995 Free PMC article.
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genoty …
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex sub …
79 results