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Results: 6

1.

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC.

Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30.

PMID:
15731757
[PubMed - indexed for MEDLINE]
2.

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A.

Hum Mutat. 2004 Aug;24(2):140-6.

PMID:
15241795
[PubMed - indexed for MEDLINE]
3.

Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.

Ito Y, Yeo JY, Chytil A, Han J, Bringas P Jr, Nakajima A, Shuler CF, Moses HL, Chai Y.

Development. 2003 Nov;130(21):5269-80.

PMID:
12975342
[PubMed - indexed for MEDLINE]
Free Article
4.

Transforming growth factor beta in cardiovascular development and function.

Azhar M, Schultz Jel J, Grupp I, Dorn GW 2nd, Meneton P, Molin DG, Gittenberger-de Groot AC, Doetschman T.

Cytokine Growth Factor Rev. 2003 Oct;14(5):391-407. Review.

PMID:
12948523
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.

Sanford LP, Ormsby I, Gittenberger-de Groot AC, Sariola H, Friedman R, Boivin GP, Cardell EL, Doetschman T.

Development. 1997 Jul;124(13):2659-70.

PMID:
9217007
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Revised diagnostic criteria for the Marfan syndrome.

De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE.

Am J Med Genet. 1996 Apr 24;62(4):417-26.

PMID:
8723076
[PubMed - indexed for MEDLINE]

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