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Items: 1 to 20 of 112

1.

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML.

Am J Med Genet A. 2010 Sep;152A(9):2203-10. doi: 10.1002/ajmg.a.33557.

2.

Patients with isolated oligo/hypodontia caused by RUNX2 duplication.

Molin A, Lopez-Cazaux S, Pichon O, Vincent M, Isidor B, Le Caignec C.

Am J Med Genet A. 2015 Jun;167(6):1386-90. doi: 10.1002/ajmg.a.37052. Epub 2015 Apr 21.

PMID:
25899668
3.

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, Patel PK, Burton BK, Kane AA, Smyth MD, Hopper R, Ellenbogen RG, Stevenson K, Speltz ML, Cunningham ML.

Am J Med Genet A. 2007 Apr 1;143A(7):678-86.

PMID:
17343269
4.

Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.

Anderson PJ, Cox TC, Roscioli T, Elakis G, Smithers L, David DJ, Powell B.

J Craniofac Surg. 2007 Mar;18(2):312-4.

PMID:
17414280
5.

RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.

Greives MR, Odessey EA, Waggoner DJ, Shenaq DS, Aradhya S, Mitchell A, Whitcomb E, Warshawsky N, He TC, Reid RR.

J Craniofac Surg. 2013 Jan;24(1):126-9. doi: 10.1097/SCS.0b013e31826686d3.

PMID:
23348268
6.

Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis.

Coussens AK, Wilkinson CR, Hughes IP, Morris CP, van Daal A, Anderson PJ, Powell BC.

BMC Genomics. 2007 Dec 12;8:458.

7.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.

PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.

8.

Segmental copy-number variation observed in Japanese by array-CGH.

Takahashi N, Tsuyama N, Sasaki K, Kodaira M, Satoh Y, Kodama Y, Sugita K, Katayama H.

Ann Hum Genet. 2008 Mar;72(Pt 2):193-204. doi: 10.1111/j.1469-1809.2007.00415.x. Epub 2008 Jan 20.

9.

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI.

Am J Med Genet A. 2007 Dec 15;143A(24):2931-6.

PMID:
17955513
10.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

11.

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.

Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R.

Mol Psychiatry. 2011 May;16(5):491-503. doi: 10.1038/mp.2010.29. Epub 2010 Mar 23.

PMID:
20308990
12.

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.

Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH.

Am J Med Genet A. 2009 Jul;149A(7):1544-9. doi: 10.1002/ajmg.a.32949.

PMID:
19533795
13.

IGF1R variants associated with isolated single suture craniosynostosis.

Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML.

Am J Med Genet A. 2011 Jan;155A(1):91-7. doi: 10.1002/ajmg.a.33781.

14.

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR.

Am J Med Genet A. 2007 Aug 15;143A(16):1912-8.

PMID:
17632770
15.

Pure de novo partial trisomy 6p in a girl with craniosynostosis.

Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB.

Am J Med Genet A. 2013 Feb;161A(2):343-51. doi: 10.1002/ajmg.a.35727. Epub 2013 Jan 10.

PMID:
23307468
16.

A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.

Alesi V, Barrano G, Morara S, Darelli D, Petrilli K, Capalbo A, Pacella M, Haass C, Finocchi M, Novelli A, Bertoli M.

Am J Med Genet A. 2011 Oct;155A(10):2543-51. doi: 10.1002/ajmg.a.34201. Epub 2011 Sep 9.

PMID:
21910230
17.

Positron emission tomography studies confirm the need for early surgical intervention in patients with single-suture craniosynostosis.

David LR, Genecov DG, Camastra AA, Wilson JA, Argenta LC.

J Craniofac Surg. 1999 Jan;10(1):38-42.

PMID:
10388424
18.

Osteoblast differentiation profiles define sex specific gene expression patterns in craniosynostosis.

Park SS, Beyer RP, Smyth MD, Clarke CM, Timms AE, Bammler TK, Stamper BD, Mecham BH, Gustafson JA, Cunningham ML.

Bone. 2015 Jul;76:169-76. doi: 10.1016/j.bone.2015.03.001. Epub 2015 Mar 7.

PMID:
25753363
19.

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR.

J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2.

PMID:
18456720
20.

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Lattanzi W, Bukvic N, Barba M, Tamburrini G, Bernardini C, Michetti F, Di Rocco C.

Childs Nerv Syst. 2012 Sep;28(9):1301-10. doi: 10.1007/s00381-012-1781-1. Epub 2012 Aug 8. Review.

PMID:
22872241
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