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Results: 5

1.

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.

Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM.

Am J Med Genet A. 2013 Mar;161A(3):619-25. doi: 10.1002/ajmg.a.35792. Epub 2013 Feb 11.

PMID:
23401428
[PubMed - indexed for MEDLINE]
2.

Sulfate in fetal development.

Dawson PA.

Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Review.

PMID:
21419855
[PubMed - indexed for MEDLINE]
3.

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.

Zhou X, Tian F, Sandzén J, Cao R, Flaberg E, Szekely L, Cao Y, Ohlsson C, Bergo MO, Borén J, Akyürek LM.

Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):3919-24. Epub 2007 Feb 26.

PMID:
17360453
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.

Colombani M, Laurent N, Le Merrer M, Delezoide AL, Thauvin-Robinet C, Huet F, Sagot P, Couvreur S, Rousseau T, Robertson SP, Faivre L.

Prenat Diagn. 2006 Dec;26(12):1151-5.

PMID:
17009344
[PubMed - indexed for MEDLINE]
5.

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D.

Hum Mutat. 2006 Jul;27(7):705-10.

PMID:
16752402
[PubMed - indexed for MEDLINE]

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