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Items: 1 to 20 of 272

1.

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
2.

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.

Am J Med Genet A. 2005 Jul 15;136(2):190-3.

PMID:
15940695
3.

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.

Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ.

Hum Mol Genet. 2009 Dec 15;18(24):4791-800. doi: 10.1093/hmg/ddp442. Epub 2009 Sep 22.

PMID:
19773341
4.

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
5.

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.

Nat Genet. 2003 Apr;33(4):487-91. Epub 2003 Mar 3.

PMID:
12612583
6.

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

Zenker M, Nährlich L, Sticht H, Reis A, Horn D.

Am J Med Genet A. 2006 May 15;140(10):1069-73.

PMID:
16596676
7.

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.

Am J Hum Genet. 2004 Apr;74(4):731-7. Epub 2004 Feb 25.

9.

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S.

Eur J Hum Genet. 2006 May;14(5):549-54.

10.

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PMID:
16684786
11.
12.

Filamin A mutation is one cause of FG syndrome.

Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ.

Am J Med Genet A. 2007 Aug 15;143A(16):1876-9.

PMID:
17632775
13.

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L.

Eur J Med Genet. 2011 Jan-Feb;54(1):25-8. doi: 10.1016/j.ejmg.2010.09.010. Epub 2010 Oct 1.

PMID:
20888935
14.

Structure of the human filamin A actin-binding domain.

Ruskamo S, Ylänne J.

Acta Crystallogr D Biol Crystallogr. 2009 Nov;65(Pt 11):1217-21. doi: 10.1107/S0907444909037330. Epub 2009 Oct 22.

PMID:
19923718
15.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E.

Neurology. 2004 Jul 13;63(1):51-6.

PMID:
15249610
16.

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA.

Clin Dysmorphol. 2007 Jan;16(1):27-33.

PMID:
17159511
17.

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

Kondoh T, Okamoto N, Norimatsu N, Uetani M, Nishimura G, Moriuchi H.

J Hum Genet. 2007;52(4):370-3. Epub 2007 Jan 31.

PMID:
17264970
18.

Familial cardiac valvulopathy due to filamin A mutation.

Bernstein JA, Bernstein D, Hehr U, Hudgins L.

Am J Med Genet A. 2011 Sep;155A(9):2236-41. doi: 10.1002/ajmg.a.34132. Epub 2011 Aug 3. Review.

PMID:
21815255
19.
20.

A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

Giuliano F, Collignon P, Paquis-Flucklinger V, Bardot J, Philip N.

Am J Med Genet A. 2005 Jan 15;132A(2):222. No abstract available.

PMID:
15523633

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