These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
107 related articles for article (PubMed ID: 28965976)
21. Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Jakubiczka S; Schröder C; Ullmann R; Volleth M; Ledig S; Gilberg E; Kroisel P; Wieacker P Sex Dev; 2010; 4(3):143-9. PubMed ID: 20453475 [TBL] [Abstract][Full Text] [Related]
22. Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Massardier J; Roth P; Michel-Calemard L; Rudigoz RC; Bouvier R; Dijoud F; Arnould P; Combourieu D; Gaucherand P Fetal Diagn Ther; 2008; 24(4):452-7. PubMed ID: 19033726 [TBL] [Abstract][Full Text] [Related]
23. Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. Walters-Sen LC; Thrush DL; Hickey SE; Hashimoto S; Reshmi S; Gastier-Foster JM; Pyatt RE; Astbury C Eur J Med Genet; 2014 Jul; 57(7):315-8. PubMed ID: 24821304 [TBL] [Abstract][Full Text] [Related]
24. Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report. Carvajal N; Martínez-García M; Chagoyen M; Morcillo N; Pino A; Lorda I; Trujillo-Tiebas MJ Gene; 2016 Feb; 577(2):289-92. PubMed ID: 26631621 [TBL] [Abstract][Full Text] [Related]
25. Dominant-negative SOX9 mutations in campomelic dysplasia. Csukasi F; Duran I; Zhang W; Martin JH; Barad M; Bamshad M; Weis MA; Eyre D; Krakow D; Cohn DH Hum Mutat; 2019 Dec; 40(12):2344-2352. PubMed ID: 31389106 [TBL] [Abstract][Full Text] [Related]
26. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. Matsushita M; Kitoh H; Kaneko H; Mishima K; Kadono I; Ishiguro N; Nishimura G Am J Med Genet A; 2013 Oct; 161A(10):2528-34. PubMed ID: 24038782 [TBL] [Abstract][Full Text] [Related]
27. Acampomelic campomelic dysplasia with SOX9 mutation. Thong MK; Scherer G; Kozlowski K; Haan E; Morris L Am J Med Genet; 2000 Aug; 93(5):421-5. PubMed ID: 10951468 [TBL] [Abstract][Full Text] [Related]
29. Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula. Fukami M; Tsuchiya T; Takada S; Kanbara A; Asahara H; Igarashi A; Kamiyama Y; Nishimura G; Ogata T Am J Med Genet A; 2012 Jul; 158A(7):1529-34. PubMed ID: 22529047 [TBL] [Abstract][Full Text] [Related]
30. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Gordon CT; Attanasio C; Bhatia S; Benko S; Ansari M; Tan TY; Munnich A; Pennacchio LA; Abadie V; Temple IK; Goldenberg A; van Heyningen V; Amiel J; FitzPatrick D; Kleinjan DA; Visel A; Lyonnet S Hum Mutat; 2014 Aug; 35(8):1011-20. PubMed ID: 24934569 [TBL] [Abstract][Full Text] [Related]
31. Sox9 function in craniofacial development and disease. Lee YH; Saint-Jeannet JP Genesis; 2011 Apr; 49(4):200-8. PubMed ID: 21309066 [TBL] [Abstract][Full Text] [Related]
37. [Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence]. Benko S; Gordon CT; Amiel J; Lyonnet S Biol Aujourdhui; 2011; 205(2):111-24. PubMed ID: 21831342 [TBL] [Abstract][Full Text] [Related]
38. A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations. Wu N; Wang L; Hu J; Zhao S; Liu B; Li Y; Du H; Zhang Y; Li X; Yan Z; Wang S; Wang Y; Zhang J; Wu Z; Disco Deciphering Disorders Involving Scoliosis Comorbidities Study Group ; Qiu G Curr Gene Ther; 2019; 19(4):242-247. PubMed ID: 31549955 [TBL] [Abstract][Full Text] [Related]
39. Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. Hsiao HP; Tsai LP; Chao MC; Tseng HI; Chang YC J Formos Med Assoc; 2006 Dec; 105(12):1013-6. PubMed ID: 17185244 [TBL] [Abstract][Full Text] [Related]
40. A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction. Pasupathy M; Radhakrishnan V; Adenwalla HS; Narayanan PV Indian J Plast Surg; 2016; 49(2):253-257. PubMed ID: 27833291 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]