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Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington AN, Hunter RD, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. Kvon EZ, et al. Among authors: dobbs mb. Cell. 2020 Mar 19;180(6):1262-1271.e15. doi: 10.1016/j.cell.2020.02.031. Epub 2020 Mar 12. Cell. 2020. PMID: 32169219 Free PMC article.
Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.
Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Gurnett CA, et al. Among authors: dobbs mb. Am J Med Genet A. 2007 Jan 1;143A(1):27-32. doi: 10.1002/ajmg.a.31563. Am J Med Genet A. 2007. PMID: 17152067
Spatio-temporal expression of sonic hedgehog (SHH) is driven by a regulatory element (ZRS) that lies 1 Mb upstream from SHH. Point mutations within the highly conserved ZRS have been described in the hemimelic extra toes mouse and in four families with preaxial polydactyly …
Spatio-temporal expression of sonic hedgehog (SHH) is driven by a regulatory element (ZRS) that lies 1 Mb upstream from SHH. Point mu …
Impact of congenital talipes equinovarus etiology on treatment outcomes.
Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB. Gurnett CA, et al. Among authors: dobbs mb. Dev Med Child Neurol. 2008 Jul;50(7):498-502. doi: 10.1111/j.1469-8749.2008.03016.x. Dev Med Child Neurol. 2008. PMID: 18611198 Free article. Clinical Trial.
188 results