128 related articles for article (PubMed ID: 36459431)
1. Long term ophthalmic complications of distal arthrogryposis type 5D.
Cohen D; Sloma R; Pizem H; Fedida A; Kalfon L; Ovadia R; Segal Z; Kassif Y; Falik Zaccai T
Ophthalmic Genet; 2023 Feb; 44(1):28-34. PubMed ID: 36459431
[TBL] [Abstract][Full Text] [Related]
2. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
Shaheen R; Al-Owain M; Khan AO; Zaki MS; Hossni HA; Al-Tassan R; Eyaid W; Alkuraya FS
Clin Genet; 2014 Jun; 85(6):568-72. PubMed ID: 23829171
[TBL] [Abstract][Full Text] [Related]
3. Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ; Below JE; Shively KM; Beck AE; Gildersleeve HI; Pinner J; Gogola GR; Hecht JT; Grange DK; Harris DJ; Earl DL; Jagadeesh S; Mehta SG; Robertson SP; Swanson JM; Faustman EM; Mefford HC; Shendure J; Nickerson DA; Bamshad MJ;
Am J Hum Genet; 2013 Jan; 92(1):150-6. PubMed ID: 23261301
[TBL] [Abstract][Full Text] [Related]
4. Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
Gowda M; Mohan S; Ramesh D; Chinta N
Clin Dysmorphol; 2021 Apr; 30(2):100-103. PubMed ID: 33491998
[TBL] [Abstract][Full Text] [Related]
5. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Khan AO; Shaheen R; Alkuraya FS
J AAPOS; 2014 Aug; 18(4):362-7. PubMed ID: 25173900
[TBL] [Abstract][Full Text] [Related]
6. A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Alesi V; Sessini F; Genovese S; Calvieri G; Sallicandro E; Ciocca L; Mingoia M; Novelli A; Moi P
Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33672664
[TBL] [Abstract][Full Text] [Related]
7. The Novel Compound Heterozygous Mutations of
Jin JY; Liu DY; Jiao ZJ; Dong Y; Li J; Xiang R
Biomed Res Int; 2020; 2020():2149342. PubMed ID: 32566668
[TBL] [Abstract][Full Text] [Related]
8. Biallelic Missense Mutation in the
Umair M; Khan A; Hayat A; Abbas S; Asiri A; Younus M; Amin W; Nawaz S; Khan S; Malik E; Alfadhel M; Ahmad F
Front Pediatr; 2019; 7():343. PubMed ID: 31555621
[TBL] [Abstract][Full Text] [Related]
9. ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Ullmann U; D'Argenzio L; Mathur S; Whyte T; Quinlivan R; Longman C; Farrugia ME; Manzur A; Willis T; Jungbluth H; Pitt M; Cirak S; ; Feng L; Stewart W; Mein R; Phadke R; Sewry C; Sarkozy A; Muntoni F
Neuromuscul Disord; 2018 Sep; 28(9):741-749. PubMed ID: 30131190
[TBL] [Abstract][Full Text] [Related]
10. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Stattin EL; Johansson J; Gudmundsson S; Ameur A; Lundberg S; Bondeson ML; Wilbe M
Am J Med Genet A; 2018 Jun; 176(6):1405-1410. PubMed ID: 29663639
[TBL] [Abstract][Full Text] [Related]
11. ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Ahangari N; Gholampour-Faroji N; Doosti M; Ghayour Mobarhan M; Shahrokhzadeh S; Karimiani EG; Hasani-Sabzevar B; Torbati PN; Haddad-Mashadrizeh A
Mol Genet Genomic Med; 2023 Jun; 11(6):e2153. PubMed ID: 36794879
[TBL] [Abstract][Full Text] [Related]
12. Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.
Patil SJ; Rai GK; Bhat V; Ramesh VA; Nagarajaram HA; Matalia J; Phadke SR
Am J Med Genet A; 2014 Nov; 164A(11):2857-62. PubMed ID: 25099528
[TBL] [Abstract][Full Text] [Related]
13. ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Endrakanti M; Sharma J; Ethayathulla AS; Kaur P; Khan SA; Kabra M; Gupta N
Am J Med Genet A; 2024 Apr; ():e63592. PubMed ID: 38568023
[TBL] [Abstract][Full Text] [Related]
14. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K; Quijano-Roy S; Monnier N; Zhou J; Fauré J; Smirnow DA; Carlier R; Laroche C; Marcorelles P; Mercier S; Mégarbané A; Odent S; Romero N; Sternberg D; Marty I; Estournet B; Jouk PS; Melki J; Lunardi J
Hum Mol Genet; 2013 Apr; 22(8):1483-92. PubMed ID: 23236030
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
Shaaban S; Duzcan F; Yildirim C; Chan WM; Andrews C; Akarsu NA; Engle EC
Clin Genet; 2014 Jun; 85(6):562-7. PubMed ID: 23808592
[TBL] [Abstract][Full Text] [Related]
16. Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.
Barnett CP; Todd EJ; Ong R; Davis MR; Atkinson V; Allcock R; Laing N; Ravenscroft G
Am J Med Genet A; 2014 Jul; 164A(7):1846-9. PubMed ID: 24782201
[No Abstract] [Full Text] [Related]
17. A novel compound heterozygous variant of
Jing S; Peng M; He Y; Hua Y; Li J; Li Y
Front Neurol; 2024; 15():1343025. PubMed ID: 38327621
[TBL] [Abstract][Full Text] [Related]
18. A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.
Hamzeh AR; Nair P; Mohamed M; Saif F; Tawfiq N; Khalifa M; Al-Ali MT; Bastaki F
Med Princ Pract; 2017; 26(2):195-198. PubMed ID: 28114145
[TBL] [Abstract][Full Text] [Related]
19. ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N; Le VQ; Petersen A; Skovbo P; Pedersen IS; Ernst A; Krarup H; Petersen MB
Am J Med Genet A; 2015 Apr; 167A(4):731-43. PubMed ID: 25708584
[TBL] [Abstract][Full Text] [Related]
20. Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.
Rai A; Puri RD; Phadke SR
Clin Dysmorphol; 2018 Oct; 27(4):130-134. PubMed ID: 30080694
[No Abstract] [Full Text] [Related]
[Next] [New Search]