201 related articles for article (PubMed ID: 29681102)
21. Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
Bouchoucha S; Chikhaoui A; Najjar D; Zayoud K; Zouari M; Nessib MN; Kéfi R; Yacoub-Youssef H
Front Pediatr; 2023; 11():1132023. PubMed ID: 37744435
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G; Strong A; Wang H; Kim JS; Watson D; Zhao S; Vaccaro C; Hartung E; Hakonarson H; Zhang TJ; Giampietro PF; Wu N
Am J Med Genet A; 2022 Dec; 188(12):3469-3481. PubMed ID: 36161696
[TBL] [Abstract][Full Text] [Related]
24. Screening of known disease genes in congenital scoliosis.
Takeda K; Kou I; Mizumoto S; Yamada S; Kawakami N; Nakajima M; Otomo N; Ogura Y; Miyake N; Matsumoto N; Kotani T; Sudo H; Yonezawa I; Uno K; Taneichi H; Watanabe K; Shigematsu H; Sugawara R; Taniguchi Y; Minami S; Nakamura M; Matsumoto M; ; Watanabe K; Ikegawa S
Mol Genet Genomic Med; 2018 Nov; 6(6):966-974. PubMed ID: 30196550
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. A radiological study of vertebral and rib malformations in children with myelomeningocele.
Naik DR; Lendon RG; Barson AJ
Clin Radiol; 1978 Jul; 29(4):427-30. PubMed ID: 679617
[TBL] [Abstract][Full Text] [Related]
27. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Turnpenny PD; Whittock N; Duncan J; Dunwoodie S; Kusumi K; Ellard S
J Med Genet; 2003 May; 40(5):333-9. PubMed ID: 12746394
[TBL] [Abstract][Full Text] [Related]
28. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.
Lam YH; Eik-Nes SH; Tang MH; Lee CP; Nicholls JM
Ultrasound Obstet Gynecol; 1999 Mar; 13(3):213-5. PubMed ID: 10204217
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
Wang L; Mizumoto S; Zhang R; Zhang Y; Liu Y; Cheng W; Li X; Dan M; Zhang C; Gao X; Wang J; Han J; Jiao L; Wang Y; Jin Q; Yang L; Li C; Li S; Zhu J; Jiang H; Nishimura G; Yamada T; Yamada S; Cai N; Qiang R; Guo L
J Hum Genet; 2024 Jul; 69(7):321-327. PubMed ID: 38565611
[TBL] [Abstract][Full Text] [Related]
31. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
Lefebvre M; Duffourd Y; Jouan T; Poe C; Jean-Marçais N; Verloes A; St-Onge J; Riviere JB; Petit F; Pierquin G; Demeer B; Callier P; Thauvin-Robinet C; Faivre L; Thevenon J
Clin Genet; 2017 Jun; 91(6):908-912. PubMed ID: 27861764
[TBL] [Abstract][Full Text] [Related]
32. Vertebral, rib, and intraspinal anomalies in congenital scoliosis: a study on 202 Caucasians.
Ghandhari H; Tari HV; Ameri E; Safari MB; Fouladi DF
Eur Spine J; 2015 Jul; 24(7):1510-21. PubMed ID: 25733202
[TBL] [Abstract][Full Text] [Related]
33. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Di Gioia SA; Shaaban S; Tüysüz B; Elcioglu NH; Chan WM; Robson CD; Ecklund K; Gilette NM; Hamzaoglu A; Tayfun GA; Traboulsi EI; Engle EC
Am J Hum Genet; 2018 Jul; 103(1):115-124. PubMed ID: 29887215
[TBL] [Abstract][Full Text] [Related]
34. Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.
Martínez-Frías ML; Bermejo E; Paisán L; Martín M; Egüés J; López JA; Martínez S; Orbea C; Cucalón F; Gairi JM
Am J Med Genet; 1994 Jul; 51(3):203-12. PubMed ID: 8074145
[TBL] [Abstract][Full Text] [Related]
35. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Lefebvre M; Dieux-Coeslier A; Baujat G; Schaefer E; Judith SO; Bazin A; Pinson L; Attie-Bitach T; Baumann C; Fradin M; Pierquin G; Julia S; Quélin C; Doray B; Berg S; Vincent-Delorme C; Lambert L; Bachmann N; Lacombe D; Isidor B; Laurent N; Joelle R; Blanchet P; Odent S; Kervran D; Leporrier N; Abel C; Segers K; Guiliano F; Ginglinger-Fabre E; Selicorni A; Goldenberg A; El Chehadeh S; Francannet C; Demeer B; Duffourd Y; Thauvin-Robinet C; Verloes A; Cormier-Daire V; Riviere JB; Faivre L; Thevenon J
J Med Genet; 2018 Jun; 55(6):422-429. PubMed ID: 29459493
[TBL] [Abstract][Full Text] [Related]
36. Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy.
Wong GY; Wong SF; Chan WP; Ng WF
Ultrasound Obstet Gynecol; 2006 May; 27(5):580-2. PubMed ID: 16619382
[TBL] [Abstract][Full Text] [Related]
37. Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
Panigrahi I; Angurana SK; Varma H; Peyam Pandurangam S; Williams V; Thappa S; Kaur A; Khandelwal N
Clin Dysmorphol; 2019 Jul; 28(3):103-113. PubMed ID: 30921094
[TBL] [Abstract][Full Text] [Related]
38. Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm.
Nagasawa H; Koyama T; Sasai H; Kohno Y; Yamamoto Y; Kondo M; Sugawara M; Terazawa D; Miura R
Congenit Anom (Kyoto); 2014 Aug; 54(3):189-92. PubMed ID: 24666313
[TBL] [Abstract][Full Text] [Related]
39. Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs).
Karlin JG; Roth MK; Patil V; Cordell D; Trevino H; Simmons J; Campbell RM; Joshi AP
J Bone Joint Surg Am; 2014 Nov; 96(21):e181. PubMed ID: 25378514
[TBL] [Abstract][Full Text] [Related]
40. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
McInerney-Leo AM; Sparrow DB; Harris JE; Gardiner BB; Marshall MS; O'Reilly VC; Shi H; Brown MA; Leo PJ; Zankl A; Dunwoodie SL; Duncan EL
Hum Mol Genet; 2015 Mar; 24(5):1234-42. PubMed ID: 25343988
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
