152 related articles for article (PubMed ID: 16691586)
1. Periventricular nodular heterotopia and Williams syndrome.
Ferland RJ; Gaitanis JN; Apse K; Tantravahi U; Walsh CA; Sheen VL
Am J Med Genet A; 2006 Jun; 140(12):1305-11. PubMed ID: 16691586
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R; Mei D; Sisodiya S; Sicca F; Harding B; Takahashi Y; Dorn T; Yoshida A; Campistol J; Krämer G; Moro F; Dobyns WB; Parrini E
Neurology; 2004 Jul; 63(1):51-6. PubMed ID: 15249610
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.
Meng X; Lu X; Li Z; Green ED; Massa H; Trask BJ; Morris CA; Keating MT
Hum Genet; 1998 Nov; 103(5):590-9. PubMed ID: 9860302
[TBL] [Abstract][Full Text] [Related]
6. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Poussaint TY; Fox JW; Dobyns WB; Radtke R; Scheffer IE; Berkovic SF; Barnes PD; Huttenlocher PR; Walsh CA
Pediatr Radiol; 2000 Nov; 30(11):748-55. PubMed ID: 11100490
[TBL] [Abstract][Full Text] [Related]
7. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
Brøndum-Nielsen K; Beck B; Gyftodimou J; Hørlyk H; Liljenberg U; Petersen MB; Pedersen W; Petersen MB; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N
Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495
[TBL] [Abstract][Full Text] [Related]
8. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
von Beust G; Laccone FA; del Pilar Andrino M; Wessel A
Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.
Brewer CM; Morrison N; Tolmie JL
Arch Dis Child; 1996 Jan; 74(1):59-61. PubMed ID: 8660051
[TBL] [Abstract][Full Text] [Related]
11. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
Milà M; Carrió A; Sánchez A; Gómez D; Jiménez D; Estivill X; Ballesta F
Med Clin (Barc); 1999 Jun; 113(2):46-9. PubMed ID: 10425618
[TBL] [Abstract][Full Text] [Related]
12. Deletion of filamin A in two female patients with periventricular nodular heterotopia.
Chardon JW; Mignot C; Aradhya S; Keren B; Afenjar A; Kaminska A; Beldjord C; Héron D; Boycott KM
Am J Med Genet A; 2012 Jun; 158A(6):1512-6. PubMed ID: 22522697
[No Abstract] [Full Text] [Related]
13. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Sheen VL; Dixon PH; Fox JW; Hong SE; Kinton L; Sisodiya SM; Duncan JS; Dubeau F; Scheffer IE; Schachter SC; Wilner A; Henchy R; Crino P; Kamuro K; DiMario F; Berg M; Kuzniecky R; Cole AJ; Bromfield E; Biber M; Schomer D; Wheless J; Silver K; Mochida GH; Berkovic SF; Andermann F; Andermann E; Dobyns WB; Wood NW; Walsh CA
Hum Mol Genet; 2001 Aug; 10(17):1775-83. PubMed ID: 11532987
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Filamin a, periventricular nodular heterotopia, and West syndrome.
Robertson SP
Epilepsia; 2006 Jun; 47(6):1082; author reply 1082-3. PubMed ID: 16822260
[No Abstract] [Full Text] [Related]
16. Autism and Williams syndrome: a case report.
Herguner S; Mukaddes NM
World J Biol Psychiatry; 2006; 7(3):186-8. PubMed ID: 16861145
[TBL] [Abstract][Full Text] [Related]
17. FISH analysis in patients with clinical diagnosis of Williams syndrome.
Elçioglu N; Mackie-Ogilvie C; Daker M; Berry AC
Acta Paediatr; 1998 Jan; 87(1):48-53. PubMed ID: 9510447
[TBL] [Abstract][Full Text] [Related]
18. Williams syndrome--the Singapore General Hospital experience.
Teo SH; Chan DK; Yong MH; Ng IS; Wong KY; Knight L; Ho LY
Ann Acad Med Singap; 1997 May; 26(3):360-4. PubMed ID: 9285033
[TBL] [Abstract][Full Text] [Related]
19. Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
de Wit MC; Kros JM; Halley DJ; de Coo IF; Verdijk R; Jacobs BC; Mancini GM
J Neurol Neurosurg Psychiatry; 2009 Apr; 80(4):426-8. PubMed ID: 19289478
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
