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Results: 1 to 20 of 216

1.

BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

Holmes G, van Bakel H, Zhou X, Losic B, Jabs EW.

Gene Expr Patterns. 2014 Dec 12. pii: S1567-133X(14)00126-4. doi: 10.1016/j.gep.2014.12.001. [Epub ahead of print]

PMID:
25511173
[PubMed - as supplied by publisher]
2.

Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach.

Kornreich D, Mitchell AA, Webb BD, Cristian I, Jabs EW.

Cleft Palate Craniofac J. 2014 Dec 9. [Epub ahead of print]

PMID:
25489769
[PubMed - as supplied by publisher]
3.

Oral clefting in china over the last decade: 205,679 patients.

Kling RR, Taub PJ, Ye X, Jabs EW.

Plast Reconstr Surg Glob Open. 2014 Nov 7;2(10):e236. doi: 10.1097/GOX.0000000000000186. eCollection 2014 Oct.

PMID:
25426353
[PubMed]
Free PMC Article
4.

Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.

Chen Q, Wang H, Schwender H, Zhang T, Hetmanski JB, Chou YH, Ye X, Yeow V, Chong SS, Zhang B, Jabs EW, Parker MM, Scott AF, Beaty TH.

PLoS One. 2014 Oct 10;9(10):e109038. doi: 10.1371/journal.pone.0109038. eCollection 2014.

PMID:
25303326
[PubMed - in process]
Free PMC Article
5.

Mirror movements identified in patients with moebius syndrome.

Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC.

Tremor Other Hyperkinet Mov (N Y). 2014 Jul 22;4:256. doi: 10.7916/D83F4MR8. eCollection 2014.

PMID:
25120946
[PubMed]
Free PMC Article
6.

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade.

Brydon CA, Conway J, Kling R, Mehta L, Jabs EW, Taub PJ.

J Craniofac Surg. 2014 Sep;25(5):1601-9. doi: 10.1097/SCS.0000000000000883.

PMID:
25072973
[PubMed - in process]
7.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.

JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.

PMID:
24993872
[PubMed - in process]
8.

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.

PMID:
24777739
[PubMed - in process]
Free PMC Article
9.

Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.

Heuzé Y, Singh N, Basilico C, Jabs EW, Holmes G, Richtsmeier JT.

Bone. 2014 Jun;63:101-9. doi: 10.1016/j.bone.2014.03.003. Epub 2014 Mar 13.

PMID:
24632501
[PubMed - indexed for MEDLINE]
10.

Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice.

Motch Perrine SM, Cole TM 3rd, Martínez-Abadías N, Aldridge K, Jabs EW, Richtsmeier JT.

BMC Dev Biol. 2014 Feb 28;14:8. doi: 10.1186/1471-213X-14-8.

PMID:
24580805
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

Rucker JC, Webb BD, Frempong T, Gaspar H, Naidich TP, Jabs EW.

Brain. 2014 Apr;137(Pt 4):1068-79. doi: 10.1093/brain/awu021. Epub 2014 Feb 21.

PMID:
24561559
[PubMed - indexed for MEDLINE]
12.

Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.

Wu T, Schwender H, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Parker MM, Wang P, Murray T, Taub M, Li S, Redett RJ, Fallin MD, Liang KY, Wu-Chou YH, Chong SS, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Jee SH, Scott AF, Beaty TH.

PLoS One. 2014 Feb 6;9(2):e88088. doi: 10.1371/journal.pone.0088088. eCollection 2014.

PMID:
24516586
[PubMed - in process]
Free PMC Article
13.

Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice.

Percival CJ, Huang Y, Jabs EW, Li R, Richtsmeier JT.

Dev Dyn. 2014 Apr;243(4):541-51. doi: 10.1002/dvdy.24095. Epub 2014 Feb 7.

PMID:
24504751
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study.

Sanderson SC, Diefenbach MA, Zinberg R, Horowitz CR, Smirnoff M, Zweig M, Streicher S, Jabs EW, Richardson LD.

J Community Genet. 2013 Oct;4(4):469-82. doi: 10.1007/s12687-013-0154-0. Epub 2013 Jun 22.

PMID:
23794263
[PubMed]
Free PMC Article
15.

Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.

Yeh E, Fanganiello RD, Sunaga DY, Zhou X, Holmes G, Rocha KM, Alonso N, Matushita H, Wang Y, Jabs EW, Passos-Bueno MR.

PLoS One. 2013 Apr 4;8(4):e60439. doi: 10.1371/journal.pone.0060439. Print 2013.

PMID:
23593218
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.

Martínez-Abadías N, Holmes G, Pankratz T, Wang Y, Zhou X, Jabs EW, Richtsmeier JT.

Dis Model Mech. 2013 May;6(3):768-79. doi: 10.1242/dmm.010397. Epub 2013 Mar 8.

PMID:
23519026
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Postnatal brain and skull growth in an Apert syndrome mouse model.

Hill CA, Martínez-Abadías N, Motch SM, Austin JR, Wang Y, Jabs EW, Richtsmeier JT, Aldridge K.

Am J Med Genet A. 2013 Apr;161A(4):745-57. doi: 10.1002/ajmg.a.35805. Epub 2013 Mar 12.

PMID:
23495236
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

PMID:
23378218
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genetic and lifestyle causal beliefs about obesity and associated diseases among ethnically diverse patients: a structured interview study.

Sanderson SC, Diefenbach MA, Streicher SA, Jabs EW, Smirnoff M, Horowitz CR, Zinberg R, Clesca C, Richardson LD.

Public Health Genomics. 2013;16(3):83-93. doi: 10.1159/000343793. Epub 2012 Dec 12.

PMID:
23235350
[PubMed - indexed for MEDLINE]
20.

Tissue-specific responses to aberrant FGF signaling in complex head phenotypes.

Martínez-Abadías N, Motch SM, Pankratz TL, Wang Y, Aldridge K, Jabs EW, Richtsmeier JT.

Dev Dyn. 2013 Jan;242(1):80-94. doi: 10.1002/dvdy.23903. Epub 2012 Dec 5.

PMID:
23172727
[PubMed - indexed for MEDLINE]
Free PMC Article

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