153 related articles for article (PubMed ID: 36932784)
1. Ellis-van Creveld syndrome in a neonate: a case report.
Asif S; Salahudeen AA; Nadeem G; Sattar A
J Pak Med Assoc; 2023 Mar; 73(3):687-689. PubMed ID: 36932784
[TBL] [Abstract][Full Text] [Related]
2. Ellis-Van Creveld Syndrome in a Neonate.
Wahid S; Aslam S; Minhas S
J Coll Physicians Surg Pak; 2018 Mar; 28(3):S44-S45. PubMed ID: 29482704
[TBL] [Abstract][Full Text] [Related]
3. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
D'Asdia MC; Torrente I; Consoli F; Ferese R; Magliozzi M; Bernardini L; Guida V; Digilio MC; Marino B; Dallapiccola B; De Luca A
Eur J Med Genet; 2013 Feb; 56(2):80-7. PubMed ID: 23220543
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
Ibarra-Ramirez M; Campos-Acevedo LD; Lugo-Trampe J; Martínez-Garza LE; Martinez-Glez V; Valencia-Benitez M; Lapunzina P; Ruiz-Peréz V
Am J Case Rep; 2017 Dec; 18():1325-1329. PubMed ID: 29229899
[TBL] [Abstract][Full Text] [Related]
5. Ellis-van Creveld syndrome.
Baujat G; Le Merrer M
Orphanet J Rare Dis; 2007 Jun; 2():27. PubMed ID: 17547743
[TBL] [Abstract][Full Text] [Related]
6. A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
Umm-E-Kalsoom ; Wasif N; Tariq M; Ahmad W
Pediatr Int; 2010 Apr; 52(2):240-6. PubMed ID: 19744229
[TBL] [Abstract][Full Text] [Related]
7. [From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].
van Hagen JM; Baart JA; Gille JJ
Ned Tijdschr Geneeskd; 2005 Apr; 149(17):929-31. PubMed ID: 15884406
[TBL] [Abstract][Full Text] [Related]
8. Ellis-van Creveld syndrome with facial hemiatrophy.
Bhat YJ; Baba AN; Manzoor S; Qayoom S; Javed S; Ajaz H
Indian J Dermatol Venereol Leprol; 2010; 76(3):266-9. PubMed ID: 20445298
[TBL] [Abstract][Full Text] [Related]
9. Ellis van Creveld syndome.
Ghanekar J; Sangrampurkar S; Hulinaykar R; Ahmer T
J Assoc Physicians India; 2009 Jul; 57():532-4. PubMed ID: 20329417
[TBL] [Abstract][Full Text] [Related]
10. Ellis-van Creveld syndrome in a patient from Tanzania.
Dekker MCJ; Sadiq AM; Jusabani MA; Mdavire VJ; Baas F; Morton DH; Hamel BCJ
Am J Med Genet A; 2019 Oct; 179(10):2034-2038. PubMed ID: 31350806
[TBL] [Abstract][Full Text] [Related]
11. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
Shen W; Han D; Zhang J; Zhao H; Feng H
Am J Med Genet A; 2011 Sep; 155A(9):2131-6. PubMed ID: 21815252
[TBL] [Abstract][Full Text] [Related]
12. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
Aziz A; Raza SI; Ali S; Ahmad W
Clin Dysmorphol; 2016 Jan; 25(1):1-6. PubMed ID: 26580685
[TBL] [Abstract][Full Text] [Related]
13. Corrected ASD: case closed?
Paiva LV; Providencia R; Sá J; Bastiaenen R; Botelho A; Mota P; Leitao-Marques A
BMJ Case Rep; 2011 Aug; 2011():. PubMed ID: 22687659
[TBL] [Abstract][Full Text] [Related]
14. Chondroectodermal Syndrome.
Jan AU; Ahmad S; Cheema TA; Ullah F; Waqar M; Hussain B
J Ayub Med Coll Abbottabad; 2018; 30(3):473-475. PubMed ID: 30465389
[TBL] [Abstract][Full Text] [Related]
15. 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
Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):36-46. PubMed ID: 35393766
[TBL] [Abstract][Full Text] [Related]
16. An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
Zaka A; Shahzad S; Rao HZ; Kanwal S; Gul A; Basit S
Am J Med Genet A; 2021 Oct; 185(10):2888-2894. PubMed ID: 34037314
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
Howard TD; Guttmacher AE; McKinnon W; Sharma M; McKusick VA; Jabs EW
Am J Hum Genet; 1997 Dec; 61(6):1405-12. PubMed ID: 9399901
[TBL] [Abstract][Full Text] [Related]
18. Ovarian endometriotic cyst in a patient with Ellis-van Creveld's syndrome: case report.
Retto G; Sturlese E; Arancio V; Palmara V; Tripodi A; Tripodi M; De Dominici R
Clin Exp Obstet Gynecol; 2008; 35(1):69-70. PubMed ID: 18390086
[TBL] [Abstract][Full Text] [Related]
19. Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review.
Ghassemi M; Goodarzi A; Seirafianpour F; Mozafarpoor S; Ziaeifar E
Dermatol Ther; 2021 Jan; 34(1):e14664. PubMed ID: 33314608
[TBL] [Abstract][Full Text] [Related]
20. Ellis-van Creveld Syndrome: a report of two cases.
Arya L; Mendiratta V; Sharma RC; Solanki RS
Pediatr Dermatol; 2001; 18(6):485-9. PubMed ID: 11841633
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]