PubMed (OMIM) for id: 6292

Year	Number of Results
1968	2
1978	2
1980	1
1982	3
1983	2
1987	3
1988	1
1990	2
1991	1
1993	2
1994	3
1997	2
1998	1
2000	1
2001	1
2002	4
2003	2
2004	1
2005	1
2024	0

1

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Sheen VL, et al. Neurology. 2005 Jan 25;64(2):254-62. doi: 10.1212/01.WNL.0000149512.79621.DF. Neurology. 2005. PMID: 15668422

2

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.

Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. Zenker M, et al. Am J Hum Genet. 2004 Apr;74(4):731-7. doi: 10.1086/383094. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988809 Free PMC article.

3

Filamin-A fragment localizes to the nucleus to regulate androgen receptor and coactivator functions.

Loy CJ, Sim KS, Yong EL. Loy CJ, et al. Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4562-7. doi: 10.1073/pnas.0736237100. Epub 2003 Apr 7. Proc Natl Acad Sci U S A. 2003. PMID: 12682292 Free PMC article.

4

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Robertson SP, et al. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612583

5

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.

Sheen VL, Feng Y, Graham D, Takafuta T, Shapiro SS, Walsh CA. Sheen VL, et al. Hum Mol Genet. 2002 Nov 1;11(23):2845-54. doi: 10.1093/hmg/11.23.2845. Hum Mol Genet. 2002. PMID: 12393796

6

Filamin is essential in actin cytoskeletal assembly mediated by p21-activated kinase 1.

Vadlamudi RK, Li F, Adam L, Nguyen D, Ohta Y, Stossel TP, Kumar R. Vadlamudi RK, et al. Nat Cell Biol. 2002 Sep;4(9):681-90. doi: 10.1038/ncb838. Nat Cell Biol. 2002. PMID: 12198493

7

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R. Moro F, et al. Neurology. 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916. Neurology. 2002. PMID: 11914408

8

Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.

Kristiansen M, Knudsen GP, Søyland A, Westvik J, Ørstavik KH. Kristiansen M, et al. Am J Med Genet. 2002 Mar 1;108(2):120-7. doi: 10.1002/ajmg.10245. Am J Med Genet. 2002. PMID: 11857561

9

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. Sheen VL, et al. Hum Mol Genet. 2001 Aug 15;10(17):1775-83. doi: 10.1093/hmg/10.17.1775. Hum Mol Genet. 2001. PMID: 11532987

10

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.

Chakarova C, Wehnert MS, Uhl K, Sakthivel S, Vosberg HP, van der Ven PF, Fürst DO. Chakarova C, et al. Hum Genet. 2000 Dec;107(6):597-611. doi: 10.1007/s004390000414. Hum Genet. 2000. PMID: 11153914

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