224 related articles for article (PubMed ID: 21960593)
21. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Reinstein E; Frentz S; Morgan T; García-Miñaúr S; Leventer RJ; McGillivray G; Pariani M; van der Steen A; Pope M; Holder-Espinasse M; Scott R; Thompson EM; Robertson T; Coppin B; Siegel R; Bret Zurita M; Rodríguez JI; Morales C; Rodrigues Y; Arcas J; Saggar A; Horton M; Zackai E; Graham JM; Rimoin DL; Robertson SP
Eur J Hum Genet; 2013 May; 21(5):494-502. PubMed ID: 23032111
[TBL] [Abstract][Full Text] [Related]
22. 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;
Nat Genet; 2003 Apr; 33(4):487-91. PubMed ID: 12612583
[TBL] [Abstract][Full Text] [Related]
23. Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
Tanner LM; Kunishima S; Lehtinen E; Helin T; Volmonen K; Lassila R; Pöyhönen M
Am J Med Genet A; 2022 Jun; 188(6):1716-1722. PubMed ID: 35156755
[TBL] [Abstract][Full Text] [Related]
24. Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation.
Li J; Dai K; Wang Z; Cao L; Bai X; Ruan C
J Hematol Oncol; 2015 Jul; 8():79. PubMed ID: 26133172
[TBL] [Abstract][Full Text] [Related]
25. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
Sheen VL; Basel-Vanagaite L; Goodman JR; Scheffer IE; Bodell A; Ganesh VS; Ravenscroft R; Hill RS; Cherry TJ; Shugart YY; Barkovich J; Straussberg R; Walsh CA
Brain Dev; 2004 Aug; 26(5):326-34. PubMed ID: 15165674
[TBL] [Abstract][Full Text] [Related]
26. FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly.
Jurak Begonja A; Hoffmeister KM; Hartwig JH; Falet H
Blood; 2011 Aug; 118(8):2285-95. PubMed ID: 21652675
[TBL] [Abstract][Full Text] [Related]
27. A gain-of-function filamin A mutation in mouse platelets induces thrombus instability.
Adam F; Kauskot A; Lamrani L; Solarz J; Soukaseum C; Repérant C; Denis CV; Raslova H; Rosa JP; Bryckaert M
J Thromb Haemost; 2022 Nov; 20(11):2666-2678. PubMed ID: 36006037
[TBL] [Abstract][Full Text] [Related]
28. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
Lu YT; Hsu CY; Liu YT; Chan CK; Chuang YC; Lin CH; Chang KP; Ho CJ; Ng CC; Lim KS; Tsai MH
Biomed J; 2022 Jun; 45(3):542-548. PubMed ID: 35660364
[TBL] [Abstract][Full Text] [Related]
29. GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Ellis ML; Terreaux A; Alwis I; Smythe R; Perdomo J; Eckly A; Cranmer SL; Passam FH; Maclean J; Schoenwaelder SM; Ruggeri ZM; Lanza F; Taoudi S; Yuan Y; Jackson SP
Blood; 2024 Jan; 143(4):342-356. PubMed ID: 37922495
[TBL] [Abstract][Full Text] [Related]
30. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
Gómez-Garre P; Seijo M; Gutiérrez-Delicado E; Castro del Río M; de la Torre C; Gómez-Abad C; Morales-Corraliza J; Puig M; Serratosa JM
J Med Genet; 2006 Mar; 43(3):232-7. PubMed ID: 15994863
[TBL] [Abstract][Full Text] [Related]
31. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Fergelot P; Coupry I; Rooryck C; Deforges J; Maurat E; Solé G; Boute O; Dieux-Coeslier A; David A; Marchal C; Thambo JB; Lacombe D; Arveiler B; Goizet C
Eur J Med Genet; 2012 May; 55(5):313-8. PubMed ID: 22366253
[TBL] [Abstract][Full Text] [Related]
32. Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E; Mei D; Pisanti MA; Catarzi S; Pucatti D; Bianchini C; Mascalchi M; Bertini E; Morrone A; Cavaliere ML; Guerrini R
J Med Genet; 2015 Jun; 52(6):405-12. PubMed ID: 25755106
[TBL] [Abstract][Full Text] [Related]
33. 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; 18(24):4791-800. PubMed ID: 19773341
[TBL] [Abstract][Full Text] [Related]
34. FLNA genomic rearrangements cause periventricular nodular heterotopia.
Clapham KR; Yu TW; Ganesh VS; Barry B; Chan Y; Mei D; Parrini E; Funalot B; Dupuis L; Nezarati MM; du Souich C; van Karnebeek C; Guerrini R; Walsh CA
Neurology; 2012 Jan; 78(4):269-78. PubMed ID: 22238415
[TBL] [Abstract][Full Text] [Related]
35. 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; 136(2):190-3. PubMed ID: 15940695
[TBL] [Abstract][Full Text] [Related]
36. 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; 67(Pt 8):871-6. PubMed ID: 21821884
[TBL] [Abstract][Full Text] [Related]
37. Disrupted filamin A/α
Donada A; Balayn N; Sliwa D; Lordier L; Ceglia V; Baschieri F; Goizet C; Favier R; Tosca L; Tachdjian G; Denis CV; Plo I; Vainchenker W; Debili N; Rosa JP; Bryckaert M; Raslova H
Blood; 2019 Apr; 133(16):1778-1788. PubMed ID: 30602618
[TBL] [Abstract][Full Text] [Related]
38. 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; 143A(10):1120-5. PubMed ID: 17431908
[TBL] [Abstract][Full Text] [Related]
39. Novel cardiac findings in periventricular nodular heterotopia.
Jefferies JL; Taylor MD; Rossano J; Belmont JW; Craigen WJ
Am J Med Genet A; 2010 Jan; 152A(1):165-8. PubMed ID: 20014127
[TBL] [Abstract][Full Text] [Related]
40. 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; 140(16):1726-36. PubMed ID: 16835913
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]