Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 35

1.

Evaluation of germline BMP4 mutation as a cause of colorectal cancer.

Lubbe SJ, Pittman AM, Matijssen C, Twiss P, Olver B, Lloyd A, Qureshi M, Brown N, Nye E, Stamp G, Blagg J, Houlston RS.

Hum Mutat. 2011 Jan;32(1):E1928-38. doi: 10.1002/humu.21376. Epub 2010 Oct 14.

PMID:
20949628
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Wnt/β-catenin signaling in the dental mesenchyme regulates incisor development by regulating Bmp4.

Fujimori S, Novak H, Weissenböck M, Jussila M, Gonçalves A, Zeller R, Galloway J, Thesleff I, Hartmann C.

Dev Biol. 2010 Dec 1;348(1):97-106. doi: 10.1016/j.ydbio.2010.09.009. Epub 2010 Sep 27.

PMID:
20883686
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV.

Clin Genet. 2011 Feb;79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x.

PMID:
20486942
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A method and server for predicting damaging missense mutations.

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR.

Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248. No abstract available.

PMID:
20354512
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV.

Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257.

PMID:
20140963
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q.

Mol Vis. 2009 Dec 27;15:2911-8.

PMID:
20057906
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

An Hh-dependent pathway in lateral plate mesoderm enables the generation of left/right asymmetry.

Tsiairis CD, McMahon AP.

Curr Biol. 2009 Dec 1;19(22):1912-7. doi: 10.1016/j.cub.2009.09.057. Epub 2009 Oct 29.

PMID:
19879143
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z, Bach-Holm D.

Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10. Review.

PMID:
19513095
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, Jugessur A, Natsume N, Shimozato K, Ohbayashi N, Suzuki Y, Niimi T, Minami K, Yamamoto M, Altannamar TJ, Erkhembaatar T, Furukawa H, Daack-Hirsch S, L'heureux J, Brandon CA, Weinberg SM, Neiswanger K, Deleyiannis FW, de Salamanca JE, Vieira AR, Lidral AC, Martin JF, Murray JC.

Am J Hum Genet. 2009 Mar;84(3):406-11. doi: 10.1016/j.ajhg.2009.02.002. Epub 2009 Feb 26.

PMID:
19249007
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.

Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J.

Am J Med Genet A. 2008 Nov 15;146A(22):2905-10. doi: 10.1002/ajmg.a.32519.

PMID:
18925664
[PubMed - indexed for MEDLINE]
11.

SIX2 and BMP4 mutations associate with anomalous kidney development.

Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD.

J Am Soc Nephrol. 2008 May;19(5):891-903. doi: 10.1681/ASN.2006111282. Epub 2008 Feb 27.

PMID:
18305125
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK.

Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31.

PMID:
18252212
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma.

Wordinger RJ, Fleenor DL, Hellberg PE, Pang IH, Tovar TO, Zode GS, Fuller JA, Clark AF.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1191-200.

PMID:
17325163
[PubMed - indexed for MEDLINE]
Free Article
14.

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV.

Am J Med Genet A. 2006 Aug 15;140(16):1711-8.

PMID:
16835935
[PubMed - indexed for MEDLINE]
15.

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

Khajavi M, Inoue K, Lupski JR.

Eur J Hum Genet. 2006 Oct;14(10):1074-81. Epub 2006 Jun 7. Review.

PMID:
16757948
[PubMed - indexed for MEDLINE]
Free Article
16.

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.

Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334.

PMID:
15846561
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Is SHORT syndrome another phenotypic variation of PITX2?

Karadeniz NN, Kocak-Midillioglu I, Erdogan D, Bökesoy I.

Am J Med Genet A. 2004 Nov 1;130A(4):406-9.

PMID:
15481036
[PubMed - indexed for MEDLINE]
18.

Nonsense-mediated decay approaches the clinic.

Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE.

Nat Genet. 2004 Aug;36(8):801-8. Review.

PMID:
15284851
[PubMed - indexed for MEDLINE]
19.
20.

An essential role of Bmp4 in the atrioventricular septation of the mouse heart.

Jiao K, Kulessa H, Tompkins K, Zhou Y, Batts L, Baldwin HS, Hogan BL.

Genes Dev. 2003 Oct 1;17(19):2362-7. Epub 2003 Sep 15.

PMID:
12975322
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk