167 related articles for article (PubMed ID: 37684519)
1. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Bilal M; Khan H; Khan MJ; Haack TB; Buchert R; Liaqat K; Ullah K; Ahmed S; Bharadwaj T; Acharya A; Peralta S; Najumuddin ; Ali H; Hasni MS; Schrauwen I; Ullah A; Ahmad W; Leal SM
Eur J Hum Genet; 2023 Nov; 31(11):1270-1274. PubMed ID: 37684519
[TBL] [Abstract][Full Text] [Related]
2. EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.
Pusapati GV; Hughes CE; Dorn KV; Zhang D; Sugianto P; Aravind L; Rohatgi R
Dev Cell; 2014 Mar; 28(5):483-96. PubMed ID: 24582806
[TBL] [Abstract][Full Text] [Related]
3. Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
Umair M; Wasif N; Albalawi AM; Ramzan K; Alfadhel M; Ahmad W; Basit S
Mol Genet Genomic Med; 2019 Jul; 7(7):e00627. PubMed ID: 31115189
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
Yousaf M; Ullah A; Azeem Z; Isani Majeed A; Memon MI; Ghous T; Basit S; Ahmad W
Congenit Anom (Kyoto); 2020 Jul; 60(4):115-119. PubMed ID: 31621941
[TBL] [Abstract][Full Text] [Related]
6. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A; Martínez-Fernández ML; Altunoglu U; Soto-Bielicka P; Torres A; Marín P; Aller E; Şentürk L; Berköz Ö; Yıldıran M; Kayserili H; Gil-Camarero E; Colli-Lista G; Sanchís-Calvo A; Carretero A; ; Guillén-Navarro E; López-González V; Ballesta-Martínez M; Rosell J; Aglan MS; Temtamy S; Otaify GA; Cuevas-Catalina L; Torres-Saavedra MN; Nevado J; Tenorio J; Lapunzina P; Bermejo-Sánchez E; Ruiz-Pérez VL
Hum Mutat; 2020 Jan; 41(1):265-276. PubMed ID: 31549748
[TBL] [Abstract][Full Text] [Related]
7. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Nguyen TQ; Saitoh M; Trinh HT; Doan NM; Mizuno Y; Seki M; Sato Y; Ogawa S; Mizuguchi M
Congenit Anom (Kyoto); 2016 Sep; 56(5):209-16. PubMed ID: 26748586
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Ullah I; Kakar N; Schrauwen I; Hussain S; Chakchouk I; Liaqat K; Acharya A; Wasif N; Santos-Cortez RLP; Khan S; Aziz A; Lee K; Couthouis J; Horn D; Kragesteen BK; Spielmann M; Thiele H; Nickerson DA; Bamshad MJ; Gitler AD; Ahmad J; Ansar M; Borck G; Ahmad W; Leal SM
Hum Genet; 2019 Jun; 138(6):593-600. PubMed ID: 30982135
[TBL] [Abstract][Full Text] [Related]
10. A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes.
Bakar A; Ullah A; Bibi N; Khan H; Rahman AU; Ahmad W; Khan B
Eur J Med Genet; 2022 Oct; 65(10):104599. PubMed ID: 36067927
[TBL] [Abstract][Full Text] [Related]
11. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Estrada-Cuzcano A; Etard C; Delvallée C; Stoetzel C; Schaefer E; Scheidecker S; Geoffroy V; Schneider A; Studer F; Mattioli F; Chennen K; Sigaudy S; Plassard D; Poch O; Piton A; Strahle U; Muller J; Dollfus H
Hum Mutat; 2020 Jan; 41(1):240-254. PubMed ID: 31549751
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Schrauwen I; Giese AP; Aziz A; Lafont DT; Chakchouk I; Santos-Cortez RLP; Lee K; Acharya A; Khan FS; Ullah A; Nickerson DA; Bamshad MJ; Ali G; Riazuddin S; Ansar M; Ahmad W; Ahmed ZM; Leal SM
J Bone Miner Res; 2019 Feb; 34(2):375-386. PubMed ID: 30395363
[TBL] [Abstract][Full Text] [Related]
14. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
Barbeito P; Martin-Morales R; Palencia-Campos A; Cerrolaza J; Rivas-Santos C; Gallego-Colastra L; Caparros-Martin JA; Martin-Bravo C; Martin-Hurtado A; Sánchez-Bellver L; Marfany G; Ruiz-Perez VL; Garcia-Gonzalo FR
Front Cell Dev Biol; 2023; 11():1190258. PubMed ID: 37576597
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Palencia-Campos A; Ullah A; Nevado J; Yildirim R; Unal E; Ciorraga M; Barruz P; Chico L; Piceci-Sparascio F; Guida V; De Luca A; Kayserili H; Ullah I; Burmeister M; Lapunzina P; Ahmad W; Morales AV; Ruiz-Perez VL
Hum Mol Genet; 2017 Dec; 26(23):4556-4571. PubMed ID: 28973407
[TBL] [Abstract][Full Text] [Related]
17. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Ruiz-Perez VL; Goodship JA
Am J Med Genet C Semin Med Genet; 2009 Nov; 151C(4):341-51. PubMed ID: 19876929
[TBL] [Abstract][Full Text] [Related]
18. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Ye X; Song G; Fan M; Shi L; Jabs EW; Huang S; Guo R; Bian Z
Hum Genet; 2006 Mar; 119(1-2):199-205. PubMed ID: 16404586
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Identification of
Ahmad S; Ali MZ; Muzammal M; Khan AU; Ikram M; Muurinen M; Hussain S; Loid P; Khan MA; Mäkitie O
Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107627
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
