252 related articles for article (PubMed ID: 17024374)
21. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U; Palencia-Campos A; Güneş N; Turgut GT; Nevado J; Lapunzina P; Valencia M; Iturrate A; Otaify G; Elhossini R; Ashour A; K Amin A; Elnahas RF; Fernandez-Nuñez E; Flores CL; Arias P; Tenorio J; Chamorro Fernández CI; Güven Y; Özsu E; Eklioğlu BS; Ibarra-Ramirez M; Diness BR; Burnyte B; Ajmi H; Yüksel Z; Yıldırım R; Ünal E; Abdalla E; Aglan M; Kayserili H; Tuysuz B; Ruiz-Pérez V
J Med Genet; 2024 Jun; 61(7):633-644. PubMed ID: 38531627
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F; Palencia-Campos A; Soto-Bielicka P; D'Anzi A; Guida V; Rosati J; Caparros-Martin JA; Torrente I; D'Asdia MC; Versacci P; Briuglia S; Lapunzina P; Tartaglia M; Marino B; Digilio MC; Ruiz-Perez VL; De Luca A
Hum Mutat; 2020 Dec; 41(12):2087-2093. PubMed ID: 32906221
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M; Margiotti K; Digilio MC; Guida V; Bruselles A; Pizzi S; Ferraris A; Memo L; Laforgia N; Dentici ML; Consoli F; Torrente I; Ruiz-Perez VL; Dallapiccola B; Marino B; De Luca A; Tartaglia M
Clin Genet; 2018 Mar; 93(3):632-639. PubMed ID: 28857138
[TBL] [Abstract][Full Text] [Related]
26. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.
Hills CB; Kochilas L; Schimmenti LA; Moller JH
Pediatr Cardiol; 2011 Oct; 32(7):977-82. PubMed ID: 21533779
[TBL] [Abstract][Full Text] [Related]
27. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL; Ide SE; Strom TM; Lorenz B; Wilson D; Woods K; King L; Francomano C; Freisinger P; Spranger S; Marino B; Dallapiccola B; Wright M; Meitinger T; Polymeropoulos MH; Goodship J
Nat Genet; 2000 Mar; 24(3):283-6. PubMed ID: 10700184
[TBL] [Abstract][Full Text] [Related]
28. Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.
Badri MK; Zhang H; Ohyama Y; Venkitapathi S; Kamiya N; Takeda H; Ray M; Scott G; Tsuji T; Kunieda T; Mishina Y; Mochida Y
Anat Rec (Hoboken); 2016 Aug; 299(8):1110-20. PubMed ID: 27090777
[TBL] [Abstract][Full Text] [Related]
29. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA; De Luca A; Cartault F; Aglan M; Temtamy S; Otaify GA; Mehrez M; Valencia M; Vázquez L; Alessandri JL; Nevado J; Rueda-Arenas I; Heath KE; Digilio MC; Dallapiccola B; Goodship JA; Mill P; Lapunzina P; Ruiz-Perez VL
Hum Mol Genet; 2015 Jul; 24(14):4126-37. PubMed ID: 25908617
[TBL] [Abstract][Full Text] [Related]
30. 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
Mol Genet Genomic Med; 2023 Aug; 11(8):e2183. PubMed ID: 37157924
[TBL] [Abstract][Full Text] [Related]
31. Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
Umair M; Seidel H; Ahmed I; Ullah A; Haack TB; Alhaddad B; Jan A; Rafique A; Strom TM; Ahmad F; Meitinger T; Ahmad W
J Genet; 2017 Dec; 96(6):1005-1014. PubMed ID: 29321360
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
Zhang H; Kamiya N; Tsuji T; Takeda H; Scott G; Rajderkar S; Ray MK; Mochida Y; Allen B; Lefebvre V; Hung IH; Ornitz DM; Kunieda T; Mishina Y
PLoS Genet; 2016 Dec; 12(12):e1006510. PubMed ID: 28027321
[TBL] [Abstract][Full Text] [Related]
34. Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.
Iwakura H; Fujii K; Furutani Y; Takatani T; Ebata R; Nakanishi T; Mitsunaga T; Saito T; Kishimoto T; Yoshida H; Shimojo N
Pediatr Int; 2016 Jan; 58(1):64-6. PubMed ID: 26818569
[TBL] [Abstract][Full Text] [Related]
35. 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; ; Cormier-Daire V
J Med Genet; 2023 Apr; 60(4):337-345. PubMed ID: 35927022
[TBL] [Abstract][Full Text] [Related]
36. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
Blair HJ; Tompson S; Liu YN; Campbell J; MacArthur K; Ponting CP; Ruiz-Perez VL; Goodship JA
BMC Biol; 2011 Feb; 9():14. PubMed ID: 21356043
[TBL] [Abstract][Full Text] [Related]
37. Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.
Peraita-Ezcurra M; Martínez-García M; Ruiz-Pérez VL; Sánchez-Gutiérrez ME; Fenollar-Cortés M; Vélez-Monsalve C; Ramos-Corrales C; Pastor I; Santonja C; Trujillo-Tiebas MJ
Gene; 2012 May; 499(1):223-5. PubMed ID: 22406498
[TBL] [Abstract][Full Text] [Related]
38. The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
Kwon EK; Louie K; Kulkarni A; Yatabe M; Ruellas ACO; Snider TN; Mochida Y; Cevidanes LHS; Mishina Y; Zhang H
Anat Rec (Hoboken); 2018 Jan; 301(1):46-55. PubMed ID: 28950429
[TBL] [Abstract][Full Text] [Related]
39. Ellis-van Creveld syndrome: Report of a case and recurrent variant.
Eftekhariyazdi M; Meshkani M; Moslem A; Hakimi P; Safari S; Khaligh A; Zare-Abdollahi D
J Gene Med; 2020 Jun; 22(6):e3175. PubMed ID: 32072716
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]