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Items: 1 to 20 of 100

1.

Mutations in FLNB cause boomerang dysplasia.

Bicknell LS, Morgan T, Bonafé L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP.

J Med Genet. 2005 Jul;42(7):e43.

2.

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
3.

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H.

Fetal Diagn Ther. 2012;32(3):216-20. doi: 10.1159/000335687. Epub 2012 Feb 18.

PMID:
22354125
4.

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, Cohn DH, Krakow D.

Hum Mol Genet. 2008 Mar 1;17(5):631-41. Epub 2007 Jul 17.

5.

Filamin B mutations cause chondrocyte defects in skeletal development.

Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V.

Hum Mol Genet. 2007 Jul 15;16(14):1661-75. Epub 2007 May 17.

PMID:
17510210
6.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP.

J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26.

7.
8.

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP.

Hum Mutat. 2012 Apr;33(4):665-73. doi: 10.1002/humu.22012. Epub 2012 Jan 23.

PMID:
22190451
9.

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
10.

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI.

Am J Med Genet A. 2007 May 15;143A(10):1120-5.

PMID:
17431908
11.

Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

Robertson SP, Jenkins ZA, Morgan T, Adès L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Miñaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illés T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D.

Am J Med Genet A. 2006 Aug 15;140(16):1726-36. Erratum in: Am J Med Genet A. 2006 Dec 15;140(24):2840. Macini, Grazia [corrected to Mancini, Grazia].

PMID:
16835913
12.

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

Santos HH, Garcia PP, Pereira L, Leão LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ.

Am J Med Genet A. 2010 Mar;152A(3):726-31. doi: 10.1002/ajmg.a.33260.

PMID:
20186808
13.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Stefanova M, Meinecke P, Gal A, Bolz H.

Am J Med Genet A. 2005 Feb 1;132A(4):386-90.

PMID:
15654694
14.

Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Zhang D, Herring JA, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE, Johnston CE, Harris S, Cain NM, Wise CA.

J Med Genet. 2006 May;43(5):e24.

15.

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
16.

Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.

Dobbs MB, Boehm S, Grange DK, Gurnett CA.

Clin Orthop Relat Res. 2008 Jun;466(6):1503-9. doi: 10.1007/s11999-008-0196-5. Epub 2008 Mar 6.

17.

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.

18.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH.

Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.

PMID:
14991055
19.

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K.

BMC Med Genet. 2016 Apr 6;17:27. doi: 10.1186/s12881-016-0290-6.

20.

Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.

Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS.

Ann Lab Med. 2014 Mar;34(2):134-8. doi: 10.3343/alm.2014.34.2.134. Epub 2014 Feb 13.

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