Cox LL - 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

Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development.

Richman JM, Fu KK, Cox LL, Sibbons JP, Cox TC. Richman JM, et al. Among authors: cox tc, cox ll. Int J Dev Biol. 2002;46(4):441-8. Int J Dev Biol. 2002. PMID: 12141430

5

The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.

Cox TC, Sadlon TJ, Schwarz QP, Matthews CS, Wise PD, Cox LL, Bottomley SS, May BK. Cox TC, et al. Among authors: cox ll. Int J Biochem Cell Biol. 2004 Feb;36(2):281-95. doi: 10.1016/s1357-2725(03)00246-2. Int J Biochem Cell Biol. 2004. PMID: 14643893

6

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.

Ashe A, Morgan DK, Whitelaw NC, Bruxner TJ, Vickaryous NK, Cox LL, Butterfield NC, Wicking C, Blewitt ME, Wilkins SJ, Anderson GJ, Cox TC, Whitelaw E. Ashe A, et al. Among authors: cox tc, cox ll. Genome Biol. 2008;9(12):R182. doi: 10.1186/gb-2008-9-12-r182. Epub 2008 Dec 19. Genome Biol. 2008. PMID: 19099580 Free PMC article.

7

Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.

Parada-Sanchez MT, Chu EY, Cox LL, Undurty SS, Standley JM, Murray JC, Cox TC. Parada-Sanchez MT, et al. Among authors: cox tc, cox ll. J Dent Res. 2017 Oct;96(11):1330-1338. doi: 10.1177/0022034517723615. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767310 Free PMC article.

8

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T. Cox LL, et al. Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805042 Free PMC article.

9

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T. Cox TC, et al. Among authors: cox ll. Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31215115 Free PMC article.

10

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. Li D, et al. Among authors: cox ll. Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3. Hum Genet. 2021. PMID: 33811546 Free PMC article.

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