404 related articles for article (PubMed ID: 25755106)
1. 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]
2. A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process.
Tsuneda SS; Torres FR; Montenegro MA; Guerreiro MM; Cendes F; Lopes-Cendes I
J Mol Neurosci; 2008 Jun; 35(2):195-200. PubMed ID: 18427995
[TBL] [Abstract][Full Text] [Related]
3. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.
Kasper BS; Kurzbuch K; Chang BS; Pauli E; Hamer HM; Winkler J; Hehr U
Am J Med Genet A; 2013 Jun; 161A(6):1323-8. PubMed ID: 23636902
[TBL] [Abstract][Full Text] [Related]
4. Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R; Hulst JM; Theuns-Valks SD; van Unen LM; Schot R; Mancini GM; Schipper ME; de Wit MC; Sibbles BJ; de Coo IF; Nanninga V; Hofstra RM; Halley DJ; Brooks AS
Am J Med Genet A; 2013 Sep; 161A(9):2376-84. PubMed ID: 23873601
[TBL] [Abstract][Full Text] [Related]
5. 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
Neurology; 2005 Jan; 64(2):254-62. PubMed ID: 15668422
[TBL] [Abstract][Full Text] [Related]
6. Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.
Yang L; Wu G; Yin H; Pan M; Zhu Y
BMC Pediatr; 2023 Jul; 23(1):346. PubMed ID: 37422633
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 14988809
[TBL] [Abstract][Full Text] [Related]
8. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.
Masruha MR; Caboclo LO; Carrete H; Cendes IL; Rodrigues MG; Garzon E; Yacubian EM; Sakamoto AC; Sheen V; Harney M; Neal J; Hill RS; Bodell A; Walsh C; Vilanova LC
Epilepsia; 2006 Jan; 47(1):211-4. PubMed ID: 16417552
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16684786
[TBL] [Abstract][Full Text] [Related]
10. Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
van Kogelenberg M; Clark AR; Jenkins Z; Morgan T; Anandan A; Sawyer GM; Edwards M; Dudding T; Homfray T; Castle B; Tolmie J; Stewart F; Kivuva E; Pilz DT; Gabbett M; Sutherland-Smith AJ; Robertson SP
J Mol Med (Berl); 2015 Jul; 93(7):773-82. PubMed ID: 25686753
[TBL] [Abstract][Full Text] [Related]
11. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S; Fergelot P; Naudion S; Cordier MP; Solé G; Guerineau E; Hubert C; Rooryck C; Vuillaume ML; Houcinat N; Deforges J; Bouron J; Devès S; Le Merrer M; David A; Geneviève D; Giuliano F; Journel H; Megarbane A; Faivre L; Chassaing N; Francannet C; Sarrazin E; Stattin EL; Vigneron J; Leclair D; Abadie C; Sarda P; Baumann C; Delrue MA; Arveiler B; Lacombe D; Goizet C; Coupry I
J Hum Genet; 2016 Aug; 61(8):693-9. PubMed ID: 27193221
[TBL] [Abstract][Full Text] [Related]
12. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.
Parrini E; Mei D; Wright M; Dorn T; Guerrini R
Neurogenetics; 2004 Sep; 5(3):191-6. PubMed ID: 15459826
[TBL] [Abstract][Full Text] [Related]
13. Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia.
Gerlevik U; Saygı C; Cangül H; Kutlu A; Çaralan EF; Topçu Y; Özören N; Sezerman OU
PLoS One; 2022; 17(5):e0265400. PubMed ID: 35613087
[TBL] [Abstract][Full Text] [Related]
14. Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation.
Liu W; An D; Niu R; Gong Q; Zhou D
Neuroimage Clin; 2018; 17():109-114. PubMed ID: 29062687
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.
Riccio MP; D'Andrea G; Sarnataro E; Marino M; Bravaccio C; Albert U
J Med Case Rep; 2021 Oct; 15(1):495. PubMed ID: 34629090
[TBL] [Abstract][Full Text] [Related]
17. A review of filamin A mutations and associated interstitial lung disease.
Sasaki E; Byrne AT; Phelan E; Cox DW; Reardon W
Eur J Pediatr; 2019 Feb; 178(2):121-129. PubMed ID: 30547349
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy.
Fallil Z; Pardoe H; Bachman R; Cunningham B; Parulkar I; Shain C; Poduri A; Knowlton R; Kuzniecky R;
Epilepsy Behav; 2015 Oct; 51():321-7. PubMed ID: 26340046
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 20186808
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
