130 related articles for article (PubMed ID: 16497570)
21. 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]
22. Genetics of arthrogryposis: linkage analysis approach.
Narkis G; Landau D; Manor E; Ofir R; Birk OS
Clin Orthop Relat Res; 2007 Mar; 456():30-5. PubMed ID: 17195815
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
Li X; Zhong B; Han W; Zhao N; Liu W; Sui Y; Wang Y; Lu Y; Wang H; Li J; Jiang M
PLoS One; 2015; 10(2):e0117158. PubMed ID: 25679999
[TBL] [Abstract][Full Text] [Related]
25. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N; Jiang M; Han W; Bian C; Li X; Huang F; Kong Q; Li J
Eur J Med Genet; 2011; 54(3):351-3. PubMed ID: 21402185
[TBL] [Abstract][Full Text] [Related]
26. Distal arthrogryposis type II: a family with varying congenital abnormalities.
Reiss JA; Sheffield LJ
Am J Med Genet; 1986 Jun; 24(2):255-67. PubMed ID: 3717209
[TBL] [Abstract][Full Text] [Related]
27. Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia.
Beals RK; Weleber RG
Am J Med Genet A; 2004 Nov; 131(1):67-70. PubMed ID: 15389706
[TBL] [Abstract][Full Text] [Related]
28. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
Tajsharghi H; Kimber E; Kroksmark AK; Jerre R; Tulinius M; Oldfors A
Arch Neurol; 2008 Aug; 65(8):1083-90. PubMed ID: 18695058
[TBL] [Abstract][Full Text] [Related]
29. Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB; Kong LC; Zuo RT; Kang QL
Mol Med Rep; 2020 Jan; 21(1):438-444. PubMed ID: 31746383
[TBL] [Abstract][Full Text] [Related]
30. A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Xu Y; Kang QL; Zhang ZL
Neuromuscul Disord; 2018 May; 28(5):456-462. PubMed ID: 29625835
[TBL] [Abstract][Full Text] [Related]
31. A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.
Jin JY; Wu PF; Fan LL; Yu F; Li JJ; Fan XF; Huang H; Zeng L; Tang JY; Xiang R
Int J Clin Exp Pathol; 2017; 10(11):11137-11142. PubMed ID: 31966463
[TBL] [Abstract][Full Text] [Related]
32. Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.
Serra G; Antona V; Cannata C; Giuffrè M; Piro E; Schierz IAM; Corsello G
Ital J Pediatr; 2022 Jul; 48(1):133. PubMed ID: 35906671
[TBL] [Abstract][Full Text] [Related]
33. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM; Buchan JG; Gurnett CA; Dobbs MB
J Bone Joint Surg Am; 2011 Jun; 93(11):1045-50. PubMed ID: 21531865
[TBL] [Abstract][Full Text] [Related]
34. An unusual distal arthrogryposis.
Kawira EL; Bender HA
Am J Med Genet; 1985 Mar; 20(3):425-9. PubMed ID: 3993671
[TBL] [Abstract][Full Text] [Related]
35. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
Krakowiak PA; Bohnsack JF; Carey JC; Bamshad M
Am J Med Genet; 1998 Feb; 76(1):93-8. PubMed ID: 9508073
[TBL] [Abstract][Full Text] [Related]
36. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA; Alaee F; Desruisseau D; Boehm S; Dobbs MB
Clin Orthop Relat Res; 2009 May; 467(5):1195-200. PubMed ID: 19142688
[TBL] [Abstract][Full Text] [Related]
37. Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.
Ebermann I; Wilke R; Lauhoff T; Lübben D; Zrenner E; Bolz HJ
Mol Vis; 2007 Aug; 13():1539-47. PubMed ID: 17893653
[TBL] [Abstract][Full Text] [Related]
38. A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.
Bamshad M; Watkins WS; Zenger RK; Bohnsack JF; Carey JC; Otterud B; Krakowiak PA; Robertson M; Jorde LB
Am J Hum Genet; 1994 Dec; 55(6):1153-8. PubMed ID: 7977374
[TBL] [Abstract][Full Text] [Related]
39. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
[TBL] [Abstract][Full Text] [Related]
40. A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.
Dobbs AK; Yang T; Farmer DM; Howard V; Conley ME
Clin Genet; 2007 Feb; 71(2):171-6. PubMed ID: 17250667
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
