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Genetic advances in craniosynostosis.

Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA.

Am J Med Genet A. 2017 May;173(5):1406-1429. doi: 10.1002/ajmg.a.38159. Epub 2017 Feb 4. Review.


Rab23's genetic structure, function and related diseases: a review.

Zheng LQ, Chi SM, Li CX.

Biosci Rep. 2017 Mar 2;37(2). pii: BSR20160410. doi: 10.1042/BSR20160410. Print 2017 Apr 30. Review.


A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM.

Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.


Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA.

Plast Reconstr Surg. 2016 Mar;137(3):952-61. doi: 10.1097/


Primary cilia in energy balance signaling and metabolic disorder.

Lee H, Song J, Jung JH, Ko HW.

BMB Rep. 2015 Dec;48(12):647-54. Review.


Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis.

Mathijssen IM.

J Craniofac Surg. 2015 Sep;26(6):1735-807. doi: 10.1097/SCS.0000000000002016. No abstract available.


The Role of Hedgehog Signaling in Tumor Induced Bone Disease.

Cannonier SA, Sterling JA.

Cancers (Basel). 2015 Aug 26;7(3):1658-83. doi: 10.3390/cancers7030856. Review.


A Genetic-Pathophysiological Framework for Craniosynostosis.

Twigg SR, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):359-77. doi: 10.1016/j.ajhg.2015.07.006. Review.


Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW.

Curr Genet Med Rep. 2014 Sep 1;2(3):135-145.


The Hedgehog signalling pathway in bone formation.

Yang J, Andre P, Ye L, Yang YZ.

Int J Oral Sci. 2015 Jun 26;7(2):73-9. doi: 10.1038/ijos.2015.14. Review.


The role of the small GTPase Rab31 in cancer.

Chua CE, Tang BL.

J Cell Mol Med. 2015 Jan;19(1):1-10. doi: 10.1111/jcmm.12403. Epub 2014 Dec 3. Review.


PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Trakadis YJ, Buote C, Therriault JF, Jacques PÉ, Larochelle H, Lévesque S.

BMC Med Genomics. 2014 May 12;7:22. doi: 10.1186/1755-8794-7-22.


The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.

Feng W, Choi I, Clouthier DE, Niswander L, Williams T.

Genesis. 2013 Oct;51(10):677-89. doi: 10.1002/dvg.22416. Epub 2013 Aug 30.


Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Krzewski K, Cullinane AR.

Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26. Review.


Structural basis of membrane trafficking by Rab family small G protein.

Park HH.

Int J Mol Sci. 2013 Apr 25;14(5):8912-23. doi: 10.3390/ijms14058912. Review.


A review of hedgehog signaling in cranial bone development.

Pan A, Chang L, Nguyen A, James AW.

Front Physiol. 2013 Apr 2;4:61. doi: 10.3389/fphys.2013.00061. eCollection 2013.


Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.

D'Angelo CS, Koiffmann CP.

J Obes. 2012;2012:845480. doi: 10.1155/2012/845480. Epub 2012 Dec 17. Review.


A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.

Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.


Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO.

Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.

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