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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1995 1
1996 1
1997 2
1999 2
2001 1
2002 2
2003 3
2004 1
2005 2
2007 3
2009 4
2010 3
2011 6
2012 1
2013 1
2014 3
2015 3
2016 1
2017 1
2018 1
2019 2
2020 1
2022 1
2023 1
2024 0

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PubMed for Bookshelf ID: 1469440

46 results

Results by year

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Page 1
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
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. Csukasi F, et al. Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31389106 Free PMC article.
Prenatal diagnosis of campomelic dysplasia due to SOX9 deletion.
Kayhan G, Calis P, Karcaaltincaba D, Tug E. Kayhan G, et al. J Obstet Gynaecol. 2019 Nov;39(8):1175-1176. doi: 10.1080/01443615.2019.1601165. Epub 2019 Jun 24. J Obstet Gynaecol. 2019. PMID: 31234679 No abstract available.
Familial campomelic dysplasia due to maternal germinal mosaicism.
Higeta D, Yamaguchi R, Takagi T, Nishimura G, Sameshima K, Saito K, Minegishi T. Higeta D, et al. Congenit Anom (Kyoto). 2018 Nov;58(6):194-197. doi: 10.1111/cga.12279. Epub 2018 Apr 2. Congenit Anom (Kyoto). 2018. PMID: 29542186 Review.
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P, Laino L. Castori M, et al. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663529
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
46 results