225 related articles for article (PubMed ID: 9508073)
1. 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]
2. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.
Krakowiak PA; O'Quinn JR; Bohnsack JF; Watkins WS; Carey JC; Jorde LB; Bamshad M
Am J Hum Genet; 1997 Feb; 60(2):426-32. PubMed ID: 9012416
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Sheldon-Hall syndrome.
Toydemir RM; Bamshad MJ
Orphanet J Rare Dis; 2009 Mar; 4():11. PubMed ID: 19309503
[TBL] [Abstract][Full Text] [Related]
5. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X; Jiang M; Han W; Zhao N; Liu W; Sui Y; Lu Y; Li J
Gene; 2013 Sep; 527(2):630-5. PubMed ID: 23850728
[TBL] [Abstract][Full Text] [Related]
6. Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?
Moore CA; Weaver DD
Am J Med Genet; 1989 Jun; 33(2):231-7. PubMed ID: 2764034
[TBL] [Abstract][Full Text] [Related]
7. Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.
Guo Y; Kronert WA; Hsu KH; Huang A; Sarsoza F; Bell KM; Suggs JA; Swank DM; Bernstein SI
Skelet Muscle; 2020 Aug; 10(1):24. PubMed ID: 32799913
[TBL] [Abstract][Full Text] [Related]
8. The distal arthrogryposes: delineation of new entities--review and nosologic discussion.
Hall JG; Reed SD; Greene G
Am J Med Genet; 1982 Feb; 11(2):185-239. PubMed ID: 7039311
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Dominant distal arthrogryposis in a Maori family with marked variability of expression.
Klemp P; Hall JG
Am J Med Genet; 1995 Feb; 55(4):414-9. PubMed ID: 7762579
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.
Ko JM; Choi IH; Baek GH; Kim KW
J Korean Med Sci; 2013 May; 28(5):780-3. PubMed ID: 23678273
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Freeman-Sheldon syndrome. A case report and review of the literature.
Ferrari D; Bettuzzi C; Donzelli O
Chir Organi Mov; 2008 Sep; 92(2):127-31. PubMed ID: 18677448
[TBL] [Abstract][Full Text] [Related]
15. A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Scala M; Accogli A; De Grandis E; Allegri A; Bagowski CP; Shoukier M; Maghnie M; Capra V
Am J Med Genet A; 2018 Mar; 176(3):663-667. PubMed ID: 29314551
[TBL] [Abstract][Full Text] [Related]
16. A further heterogeneous locus contained in 8q21 for Freeman-Sheldon syndrome may be suggested by Kristin Hofmann.
Li X; Jiang M; Han W
Eur J Med Genet; 2013 May; 56(5):278. PubMed ID: 23486078
[TBL] [Abstract][Full Text] [Related]
17. Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report.
Altunhan H; Annagür A; Ertuğrul S; Pekcan S; Ors R
Genet Couns; 2010; 21(3):347-51. PubMed ID: 20964128
[TBL] [Abstract][Full Text] [Related]
18. 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
Hofmann K; Becker J; Heller R; Boute O; Andrieux J; Hoyer J; Ekici AB; Reis A; Rauch A
Eur J Med Genet; 2011; 54(5):e495-500. PubMed ID: 21722758
[TBL] [Abstract][Full Text] [Related]
19. Surgical management of the hand in Freeman-Sheldon syndrome.
Kalliainen LK; Drake DB; Edgerton MT; Grzeskiewicz JL; Morgan RF
Ann Plast Surg; 2003 May; 50(5):456-62; discussion 463-70. PubMed ID: 12792532
[TBL] [Abstract][Full Text] [Related]
20. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?
Vanĕk J; Janda J; Amblerová V; Losan F
J Med Genet; 1986 Jun; 23(3):231-6. PubMed ID: 3723551
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]