168 related articles for article (PubMed ID: 37422633)
1. 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]
2. 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]
3. 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]
4. 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]
5. Phenotypic manifestations in
Loft Nagel J; Jønch AE; Nguyen NTTN; Bygum A
BMJ Case Rep; 2022 Apr; 15(4):. PubMed ID: 35414575
[TBL] [Abstract][Full Text] [Related]
6. Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.
Liu W; Yan B; An D; Xiao J; Hu F; Zhou D
Epilepsy Res; 2017 Jul; 133():33-40. PubMed ID: 28411558
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
Ieda D; Hori I; Nakamura Y; Ohshita H; Negishi Y; Shinohara T; Hattori A; Kato T; Inukai S; Kitamura K; Kawai T; Ohara O; Kunishima S; Saitoh S
Brain Dev; 2018 Jun; 40(6):489-492. PubMed ID: 29449050
[TBL] [Abstract][Full Text] [Related]
11. 47 patients with FLNA associated periventricular nodular heterotopia.
Lange M; Kasper B; Bohring A; Rutsch F; Kluger G; Hoffjan S; Spranger S; Behnecke A; Ferbert A; Hahn A; Oehl-Jaschkowitz B; Graul-Neumann L; Diepold K; Schreyer I; Bernhard MK; Mueller F; Siebers-Renelt U; Beleza-Meireles A; Uyanik G; Janssens S; Boltshauser E; Winkler J; Schuierer G; Hehr U
Orphanet J Rare Dis; 2015 Oct; 10():134. PubMed ID: 26471271
[TBL] [Abstract][Full Text] [Related]
12. [New variants in FLNA gene cause periventricular nodular heterotopia and epileptic seizure in three cases].
Cao M; Liu C; Wei Z; Qiao X; Deng Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):626-630. PubMed ID: 34247364
[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. 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]
15. 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]
16. 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]
17. Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome.
Deloison B; Sonigo P; Millischer-Bellaiche AE; Quibel T; Cavallin M; Benoist G; Quelin C; Jouk PS; Lev D; Alison M; Baumann C; Beldjord C; Razavi F; Bessières B; Boddaert N; Ville Y; Salomon LJ; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):773-782. PubMed ID: 30391507
[TBL] [Abstract][Full Text] [Related]
18. Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
Pelizzo G; Collura M; Puglisi A; Pappalardo MP; Agolini E; Novelli A; Piccione M; Cacace C; Bussani R; Corsello G; Calcaterra V
BMC Pediatr; 2019 Mar; 19(1):86. PubMed ID: 30922288
[TBL] [Abstract][Full Text] [Related]
19. Detection of a novel c.7106_7110delinsT heterozygous mutation in the FLNA gene in an asymptomatic mother with periventricular nodular heterotopia during prenatal genetic counseling.
Chen CP; Chern SR; Chiu NC; Liu YP; Chen YN; Chen SW; Wang W
Taiwan J Obstet Gynecol; 2016 Dec; 55(6):897-899. PubMed ID: 28040145
[No Abstract] [Full Text] [Related]
20. Lung disease associated with filamin A gene mutation: a case report.
Eltahir S; Ahmad KS; Al-Balawi MM; Bukhamsien H; Al-Mobaireek K; Alotaibi W; Al-Shamrani A
J Med Case Rep; 2016 Apr; 10():97. PubMed ID: 27091362
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
