Cox TC - Search Results

1

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.

Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK. Cox TC, et al. Among authors: cox ll. Hum Mol Genet. 2000 Oct 12;9(17):2553-62. doi: 10.1093/hmg/9.17.2553. Hum Mol Genet. 2000. PMID: 11030761

2

A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region.

Cox TC, Cox LL, Ballabio A. Cox TC, et al. Among authors: cox ll. Eur J Hum Genet. 1998 Jul-Aug;6(4):406-12. doi: 10.1038/sj.ejhg.5200203. Eur J Hum Genet. 1998. PMID: 9781050

3

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

Kayserili H, Cox TC, Cox LL, Basaran S, Kiliç G, Ballabio A, Yüksel-Apak M. Kayserili H, et al. Among authors: cox tc, cox ll. J Med Genet. 2001 Jun;38(6):411-7. doi: 10.1136/jmg.38.6.411. J Med Genet. 2001. PMID: 11424926 Free PMC article. Review. No abstract available.

4

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Zhu H, Zhang J, Rao S, Durbin MD, Li Y, Lang R, Liu J, Xiao B, Shan H, Meng Z, Wang J, Tang X, Shi Z, Cox LL, Zhao S, Ware SM, Tan TY, de Silva M, Gallacher L, Liu T, Mi J, Zeng C, Zheng HF, Zhang Q, Antonarakis SE, Cox TC, Zhang YB. Zhu H, et al. Among authors: cox tc. Genome Res. 2025 May 2;35(5):1065-1079. doi: 10.1101/gr.280047.124. Genome Res. 2025. PMID: 40234029

5

Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology.

Cox TC. Cox TC. Clin Genet. 2004 Mar;65(3):163-76. doi: 10.1111/j.0009-9163.2004.00225.x. Clin Genet. 2004. PMID: 14756664 Review.

6

Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.

Xu X, Chen Q, Huang Q, Cox TC, Zhu H, Hu J, Han X, Meng Z, Wang B, Liao Z, Xu W, Xiao B, Lang R, Liu J, Huang J, Tang X, Wang J, Li Q, Liu T, Zhang Q, Antonarakis SE, Zhang J, Fan X, Liu H, Zhang YB. Xu X, et al. Among authors: cox tc. Nat Commun. 2025 May 17;16(1):4598. doi: 10.1038/s41467-025-59735-w. Nat Commun. 2025. PMID: 40382324 Free PMC article.

7

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.

Rao S, Watt KEN, Maili L, Lamb M, Farrow E, Hassan H, Weaver K, Miller B, Dash S, Cox LL, Gallacher L, Kant SG, Gibson M, Pastinen T, Li D, Bhoj EJK, Zhu H, Zhang J, Zhang YB, Tan TY, Trainor PA, Cox TC. Rao S, et al. Among authors: cox tc. J Dent Res. 2025 Apr 24:220345251325818. doi: 10.1177/00220345251325818. Online ahead of print. J Dent Res. 2025. PMID: 40275713

8

Correction: Kularbkaew et al. Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis. Int. J. Mol. Sci. 2024, 25, 8867.

Kularbkaew T, Thongmak T, Sandeth P, Daroontum T, Durward CS, Vittayakittipong P, Duke P, Iamaroon A, Kintarak S, Intachai W, Ngamphiw C, Tongsima S, Jatooratthawichot P, Cox TC, Ketudat Cairns JR, Kantaputra P. Kularbkaew T, et al. Among authors: cox tc. Int J Mol Sci. 2025 Mar 31;26(7):3228. doi: 10.3390/ijms26073228. Int J Mol Sci. 2025. PMID: 40244023 Free PMC article.

9

The Society for Craniofacial Genetics and Developmental Biology 47th Annual Meeting.

Trainor PA, Cox TC, Clouthier DE, Fantauzzo KA, Harris MP, Jeong J, Stottmann RW, Merrill AE. Trainor PA, et al. Among authors: cox tc. Am J Med Genet A. 2025 Jul;197(7):e64059. doi: 10.1002/ajmg.a.64059. Epub 2025 Mar 17. Am J Med Genet A. 2025. PMID: 40095424

10

PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans.

Li Q, Faux P, Wentworth Winchester E, Yang G, Chen Y, Ramírez LM, Fuentes-Guajardo M, Poloni L, Steimetz E, Gonzalez-José R, Acuña V, Bortolini MC, Poletti G, Gallo C, Rothhammer F, Rojas W, Zheng Y, Cox JC, Patel V, Hoffman MP, Ding L, Peng C, Cotney J, Navarro N, Cox TC, Delgado M, Adhikari K, Ruiz-Linares A. Li Q, et al. Among authors: cox tc. Curr Biol. 2025 Jan 6;35(1):131-144.e6. doi: 10.1016/j.cub.2024.11.027. Epub 2024 Dec 12. Curr Biol. 2025. PMID: 39672157 Free article.

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