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Results: 10

1.

Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report.

Vakalopoulos I, Kampantais S, Dimopoulos P, Papastavros C, Katsikas V.

BMC Urol. 2012 Jan 10;12:2. doi: 10.1186/1471-2490-12-2.

2.

Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.

Page RC, Clark JG, Misra S.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Aug 1;67(Pt 8):871-6. doi: 10.1107/S1744309111024249. Epub 2011 Jul 26.

3.

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
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.

The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS.

Am J Med Genet A. 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. Review.

6.

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
8.

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
9.

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
10.

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.

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