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Results: 1 to 20 of 211

1.

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 Jul 28. [Epub ahead of print]

PMID:
25072973
[PubMed - as supplied by publisher]
2.

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 Jul 3. doi: 10.1001/jamaophthalmol.2014.1731. [Epub ahead of print]

PMID:
24993872
[PubMed - as supplied by publisher]
3.

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]
4.

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 - in process]
5.

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 - in process]
Free PMC Article
6.

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]
7.

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
8.

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 - in process]
Free PMC Article
9.

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
10.

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
11.

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
12.

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
13.

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
14.

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]
15.

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
16.

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.

PMID:
23160099
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice.

Percival CJ, Wang Y, Zhou X, Jabs EW, Richtsmeier JT.

J Anat. 2012 Nov;221(5):434-42. doi: 10.1111/j.1469-7580.2012.01555.x. Epub 2012 Aug 12.

PMID:
22881429
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW.

Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5.

PMID:
22770981
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.

Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.

PMID:
22770980
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

Wu RL, Lawson CS, Jabs EW, Sanderson SC.

Am J Med Genet A. 2012 Jul;158A(7):1556-67. doi: 10.1002/ajmg.a.35379. Epub 2012 May 24.

PMID:
22628272
[PubMed - indexed for MEDLINE]

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