179 related articles for article (PubMed ID: 17632775)
1. 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; 143A(16):1876-9. PubMed ID: 17632775
[TBL] [Abstract][Full Text] [Related]
2. Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?
Briault S; Villard L; Rogner U; Coy J; Odent S; Lucas J; Passage E; Zhu D; Shrimpton A; Pembrey M; Till M; Guichet A; Dessay S; Fontes M; Poustka A; Moraine C
Am J Med Genet; 2000 Nov; 95(2):178-81. PubMed ID: 11078572
[TBL] [Abstract][Full Text] [Related]
3. Genitourinary anomalies of pediatric FG syndrome.
Smith JF; Wayment RO; Cartwright PC; Snow BW; Opitz JM
J Urol; 2007 Aug; 178(2):656-9. PubMed ID: 17574621
[TBL] [Abstract][Full Text] [Related]
4. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
Hehr U; Hehr A; Uyanik G; Phelan E; Winkler J; Reardon W
J Med Genet; 2006 Jun; 43(6):541-4. PubMed ID: 16299064
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. Presence of filamin in the astrocytic inclusions of Aicardi syndrome.
Van den Veyver IB; Panichkul PP; Antalffy BA; Sun Y; Hunter JV; Armstrong DD
Pediatr Neurol; 2004 Jan; 30(1):7-15. PubMed ID: 14738943
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Combined cardiological and neurological abnormalities due to filamin A gene mutation.
de Wit MC; de Coo IF; Lequin MH; Halley DJ; Roos-Hesselink JW; Mancini GM
Clin Res Cardiol; 2011 Jan; 100(1):45-50. PubMed ID: 20730588
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.
Zwamborn-Hanssen AM; Schrander-Stumpel CT; Smeets E; Decock P; Fryns JP
Genet Couns; 1995; 6(4):313-9. PubMed ID: 8775418
[TBL] [Abstract][Full Text] [Related]
14. Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
Piluso G; Carella M; D'Avanzo M; Santinelli R; Carrano EM; D'Avanzo A; D'Adamo AP; Gasparini P; Nigro V
Hum Genet; 2003 Feb; 112(2):124-30. PubMed ID: 12522552
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Duff RM; Tay V; Hackman P; Ravenscroft G; McLean C; Kennedy P; Steinbach A; Schöffler W; van der Ven PFM; Fürst DO; Song J; Djinović-Carugo K; Penttilä S; Raheem O; Reardon K; Malandrini A; Gambelli S; Villanova M; Nowak KJ; Williams DR; Landers JE; Brown RH; Udd B; Laing NG
Am J Hum Genet; 2011 Jun; 88(6):729-740. PubMed ID: 21620354
[TBL] [Abstract][Full Text] [Related]
17. Molecular basis of filamin A-FilGAP interaction and its impairment in congenital disorders associated with filamin A mutations.
Nakamura F; Heikkinen O; Pentikäinen OT; Osborn TM; Kasza KE; Weitz DA; Kupiainen O; Permi P; Kilpeläinen I; Ylänne J; Hartwig JH; Stossel TP
PLoS One; 2009; 4(3):e4928. PubMed ID: 19293932
[TBL] [Abstract][Full Text] [Related]
18. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F; Piton A; Gérard B; Superti-Furga A; Mandel JL; Unger S
Am J Med Genet A; 2016 Jun; 170(6):1626-9. PubMed ID: 27061120
[TBL] [Abstract][Full Text] [Related]
19. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Lesca G; Moizard MP; Bussy G; Boggio D; Hu H; Haas SA; Ropers HH; Kalscheuer VM; Des Portes V; Labalme A; Sanlaville D; Edery P; Raynaud M; Lespinasse J
Am J Med Genet A; 2013 Dec; 161A(12):3063-71. PubMed ID: 24039113
[TBL] [Abstract][Full Text] [Related]
20. The FG syndrome: 7 new cases.
Thompson EM; Baraitser M; Lindenbaum RH; Zaidi ZH; Kroll JS
Clin Genet; 1985 Jun; 27(6):582-94. PubMed ID: 4017279
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]