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Items: 7

1.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.

2.

From tall to short: the role of TGFβ signaling in growth and its disorders.

Le Goff C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

PMID:
22791552
3.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
4.

Natural history of cardiac involvement in geleophysic dysplasia.

Scott A, Yeung S, Dickinson DF, Karbani G, Crow YJ.

Am J Med Genet A. 2005 Jan 30;132A(3):320-3. Review.

PMID:
15690380
5.

Patients with geleophysic dysplasia are not always geleophysic.

Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ.

Am J Med Genet. 1997 Oct 3;72(1):85-90. Review.

PMID:
9295082
6.

Myhre syndrome.

Le Goff C, Michot C, Cormier-Daire V.

Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Review.

PMID:
24580733
7.

Latent TGF-beta binding proteins: extracellular matrix association and roles in TGF-beta activation.

Hyytiäinen M, Penttinen C, Keski-Oja J.

Crit Rev Clin Lab Sci. 2004;41(3):233-64. Review.

PMID:
15307633

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