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Items: 1 to 20 of 47

1.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.

Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.

2.

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
3.

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
4.

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K.

Am J Hum Genet. 2011 Jul 15;89(1):15-27. doi: 10.1016/j.ajhg.2011.05.021.

5.

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, Zabel B, Superti-Furga A.

Am J Hum Genet. 2011 May 13;88(5):608-15. doi: 10.1016/j.ajhg.2011.04.002. Epub 2011 May 5.

6.

Identification of CANT1 mutations in Desbuquois dysplasia.

Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 Nov;85(5):706-10. doi: 10.1016/j.ajhg.2009.10.001. Epub 2009 Oct 22.

7.
8.

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S.

Am J Med Genet A. 2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217.

PMID:
18470895
9.

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.

Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.

PMID:
18425797
10.

Management of severe cervical kyphosis in a patient with Larsen syndrome. Case report.

Madera M, Crawford A, Mangano FT.

J Neurosurg Pediatr. 2008 Apr;1(4):320-4. doi: 10.3171/PED/2008/1/4/320. Review.

PMID:
18377309
11.

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Mitter D, Krakow D, Farrington-Rock C, Meinecke P.

Am J Med Genet A. 2008 Mar 15;146A(6):779-83. doi: 10.1002/ajmg.a.32230.

PMID:
18257094
12.

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.

13.

Filamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner.

Zheng L, Baek HJ, Karsenty G, Justice MJ.

J Cell Biol. 2007 Jul 2;178(1):121-8.

14.

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
15.

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.

16.

Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature.

Sakaura H, Matsuoka T, Iwasaki M, Yonenobu K, Yoshikawa H.

Spine (Phila Pa 1976). 2007 Jan 1;32(1):E39-44. Review.

PMID:
17202879
17.

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.

18.

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
19.

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.

20.

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.

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