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Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.

Browne ML, Carter TC, Kay DM, Kuehn D, Brody LC, Romitti PA, Liu A, Caggana M, Druschel CM, Mills JL.

Am J Med Genet A. 2012 Oct;158A(10):2463-72. doi: 10.1002/ajmg.a.35565. Epub 2012 Sep 10.


On the symmetry of limb deficiencies among children with multiple congenital anomalies.

Stoll C, Rosano A, Botto LD, Erickson D, Khoury MJ, Olney RS, Castilla EE, Cocchi G, Cornel MC, Goujard J, Bermejo E, Merlob P, Mutchinick O, Ritvanen A, Zampino G, Mastroiacovo P.

Ann Genet. 2001 Jan-Mar;44(1):19-24.


Maternal periconceptional alcohol consumption and congenital limb deficiencies.

Caspers Conway KM, Romitti PA, Holmes L, Olney RS, Richardson SD; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2014 Nov;100(11):863-76. doi: 10.1002/bdra.23292. Epub 2014 Aug 18.


Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.

Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ.

Am J Med Genet A. 2005 Sep 15;138(1):21-6.


A functional polymorphism at the FGF10 gene is associated with extreme myopia.

Hsi E, Chen KC, Chang WS, Yu ML, Liang CL, Juo SH.

Invest Ophthalmol Vis Sci. 2013 May 7;54(5):3265-71. doi: 10.1167/iovs.13-11814. Erratum in: Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):922.


Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study.

Tinholt M, Viken MK, Dahm AE, Vollan HK, Sahlberg KK, Garred O, Børresen-Dale AL, Jacobsen AF, Kristensen V, Bukholm I, Kåresen R, Schlichting E, Skretting G, Lie BA, Sandset PM, Iversen N.

BMC Cancer. 2014 Nov 19;14:845. doi: 10.1186/1471-2407-14-845.


Fgf8 signalling from the AER is essential for normal limb development.

Lewandoski M, Sun X, Martin GR.

Nat Genet. 2000 Dec;26(4):460-3.


Maternal caffeine consumption and risk of congenital limb deficiencies.

Chen L, Bell EM, Browne ML, Druschel CM, Romitti PA, Schmidt RJ, Burns TL, Moslehi R, Olney RS; National Birth Defects Prevention Study.

Birth Defects Res A Clin Mol Teratol. 2012 Dec;94(12):1033-43. doi: 10.1002/bdra.23050. Epub 2012 Aug 18.


The roles of Fgf4 and Fgf8 in limb bud initiation and outgrowth.

Boulet AM, Moon AM, Arenkiel BR, Capecchi MR.

Dev Biol. 2004 Sep 15;273(2):361-72.


Maternal periconceptional exposure to cigarette smoking and congenital limb deficiencies.

Caspers KM, Romitti PA, Lin S, Olney RS, Holmes LB, Werler MM; National Birth Defects Prevention Study.

Paediatr Perinat Epidemiol. 2013 Nov;27(6):509-20. doi: 10.1111/ppe.12075. Epub 2013 Jul 31.


En1 and Wnt7a interact with Dkk1 during limb development in the mouse.

Adamska M, MacDonald BT, Sarmast ZH, Oliver ER, Meisler MH.

Dev Biol. 2004 Aug 1;272(1):134-44.


Analysis of the genetic pathway leading to formation of ectopic apical ectodermal ridges in mouse Engrailed-1 mutant limbs.

Loomis CA, Kimmel RA, Tong CX, Michaud J, Joyner AL.

Development. 1998 Mar;125(6):1137-48.


Association study of fibroblast growth factor 10 (FGF10) polymorphisms with susceptibility to extreme myopia in a Japanese population.

Yoshida M, Meguro A, Okada E, Nomura N, Mizuki N.

Mol Vis. 2013 Nov 17;19:2321-9. eCollection 2013.


Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo.

Agarwal P, Wylie JN, Galceran J, Arkhitko O, Li C, Deng C, Grosschedl R, Bruneau BG.

Development. 2003 Feb;130(3):623-33.


Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis.

Cleves MA, Hobbs CA, Zhao W, Krakowiak PA, MacLeod SL; National Birth Defects Prevention Study.

Paediatr Perinat Epidemiol. 2011 Mar;25(2):124-34. doi: 10.1111/j.1365-3016.2010.01160.x. Epub 2011 Jan 4.

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