147 related articles for article (PubMed ID: 1999829)
1. Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.
Turnpenny PD; Thwaites RJ; Boulos FN
J Med Genet; 1991 Jan; 28(1):27-33. PubMed ID: 1999829
[TBL] [Abstract][Full Text] [Related]
2. [Spondylocostal dysostosis: a rare genetic disease].
Beine O; Bolland J; Verloes A; Lebrun FR; Khamis J; Muller Ch
Rev Med Liege; 2004 Sep; 59(9):513-6. PubMed ID: 15562550
[TBL] [Abstract][Full Text] [Related]
3. Congenital spinal deformity in a three generation family.
Temple IK; Thomas TG; Baraitser M
J Med Genet; 1988 Dec; 25(12):831-4. PubMed ID: 3236365
[TBL] [Abstract][Full Text] [Related]
4. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
Turnpenny PD; Bulman MP; Frayling TM; Abu-Nasra TK; Garrett C; Hattersley AT; Ellard S
Am J Hum Genet; 1999 Jul; 65(1):175-82. PubMed ID: 10364530
[TBL] [Abstract][Full Text] [Related]
5. Spine and rib abnormalities and stature in spondylocostal dysostosis.
Takikawa K; Haga N; Maruyama T; Nakatomi A; Kondoh T; Makita Y; Hata A; Kawabata H; Ikegawa S
Spine (Phila Pa 1976); 2006 Apr; 31(7):E192-7. PubMed ID: 16582839
[TBL] [Abstract][Full Text] [Related]
6. Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.
Teli M; Hosalkar H; Gill I; Noordeen H
Spine (Phila Pa 1976); 2004 Jul; 29(13):1447-51. PubMed ID: 15223937
[TBL] [Abstract][Full Text] [Related]
7. Identical twins with an autosomal recessive form of spondylocostal dysostosis.
Satar M; Kozanoglu MN; Atilla E
Clin Genet; 1992 Jun; 41(6):290-2. PubMed ID: 1623623
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
Bulman MP; Kusumi K; Frayling TM; McKeown C; Garrett C; Lander ES; Krumlauf R; Hattersley AT; Ellard S; Turnpenny PD
Nat Genet; 2000 Apr; 24(4):438-41. PubMed ID: 10742114
[TBL] [Abstract][Full Text] [Related]
9. Spondylocostal dysostosis: dominant type.
Lorenz P; Rupprecht E
Am J Med Genet; 1990 Feb; 35(2):219-21. PubMed ID: 2309760
[TBL] [Abstract][Full Text] [Related]
10. Spondylocostal dysplasia and neural tube defects.
Giacoia GP; Say B
J Med Genet; 1991 Jan; 28(1):51-3. PubMed ID: 1999834
[TBL] [Abstract][Full Text] [Related]
11. Monozygotic twins discordant for spondylocostal dysostosis.
Van Thienen MN; Van der Auwera BJ
Am J Med Genet; 1994 Oct; 52(4):483-6. PubMed ID: 7747763
[TBL] [Abstract][Full Text] [Related]
12. [Spondylocostal dysostosis].
Bonora G; Baronciani D; Gargantini G; Dalprà L
Pediatr Med Chir; 1985; 7(6):843-5. PubMed ID: 3837253
[TBL] [Abstract][Full Text] [Related]
13. Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.
Roberts AP; Conner AN; Tolmie JL; Connor JM
J Bone Joint Surg Br; 1988 Jan; 70(1):123-6. PubMed ID: 3339042
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.
Gucev ZS; Tasic V; Pop-Jordanova N; Sparrow DB; Dunwoodie SL; Ellard S; Young E; Turnpenny PD
Am J Med Genet A; 2010 Jun; 152A(6):1378-82. PubMed ID: 20503311
[TBL] [Abstract][Full Text] [Related]
15. Familial Jarcho-Levin syndrome.
Romeo MG; Distefano G; Di Bella D; Mangiagli A; Caltabiano L; Roccaro S; Mollica F
Clin Genet; 1991 Apr; 39(4):253-9. PubMed ID: 2070546
[TBL] [Abstract][Full Text] [Related]
16. Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis.
Tamay Z; Guler N; Ones U; Leman OD; Akcay A
Indian J Pediatr; 2005 Apr; 72(4):367. PubMed ID: 15876776
[TBL] [Abstract][Full Text] [Related]
17. Jarcho-Levin syndrome: four new cases and classification of subtypes.
Karnes PS; Day D; Berry SA; Pierpont ME
Am J Med Genet; 1991 Sep; 40(3):264-70. PubMed ID: 1951427
[TBL] [Abstract][Full Text] [Related]
18. A case of spondylocostal dysostosis with a fra (5) (q32).
Satar M; Temoçin AK; Atici A; Demirhan O
Turk J Pediatr; 1997; 39(4):547-9. PubMed ID: 9433158
[TBL] [Abstract][Full Text] [Related]
19. Recessive spondylocostal dysostosis: two new cases.
Silengo MC; Cavallaro S; Franceschini P
Clin Genet; 1978 Mar; 13(3):289-94. PubMed ID: 416928
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
Whittock NV; Turnpenny PD; Tuerlings J; Ellard S
Prenat Diagn; 2003 Jul; 23(7):575-9. PubMed ID: 12868087
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]