270 related articles for article (PubMed ID: 25257626)
1. Periventricular nodular heterotopia in Smith-Magenis syndrome.
Capra V; Biancheri R; Morana G; Striano P; Novara F; Ferrero GB; Boeri L; Celle ME; Mancardi MM; Zuffardi O; Parrini E; Guerrini R
Am J Med Genet A; 2014 Dec; 164A(12):3142-7. PubMed ID: 25257626
[TBL] [Abstract][Full Text] [Related]
2. Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.
Maya I; Vinkler C; Konen O; Kornreich L; Steinberg T; Yeshaya J; Latarowski V; Shohat M; Lev D; Baris HN
Am J Med Genet A; 2014 Aug; 164A(8):1940-6. PubMed ID: 24788350
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
Vilboux T; Ciccone C; Blancato JK; Cox GF; Deshpande C; Introne WJ; Gahl WA; Smith AC; Huizing M
PLoS One; 2011; 6(8):e22861. PubMed ID: 21857958
[TBL] [Abstract][Full Text] [Related]
4. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Conti V; Carabalona A; Pallesi-Pocachard E; Parrini E; Leventer RJ; Buhler E; McGillivray G; Michel FJ; Striano P; Mei D; Watrin F; Lise S; Pagnamenta AT; Taylor JC; Kini U; Clayton-Smith J; Novara F; Zuffardi O; Dobyns WB; Scheffer IE; Robertson SP; Berkovic SF; Represa A; Keays DA; Cardoso C; Guerrini R
Brain; 2013 Nov; 136(Pt 11):3378-94. PubMed ID: 24056535
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Girirajan S; Vlangos CN; Szomju BB; Edelman E; Trevors CD; Dupuis L; Nezarati M; Bunyan DJ; Elsea SH
Genet Med; 2006 Jul; 8(7):417-27. PubMed ID: 16845274
[TBL] [Abstract][Full Text] [Related]
6. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Potocki L; Shaw CJ; Stankiewicz P; Lupski JR
Genet Med; 2003; 5(6):430-4. PubMed ID: 14614393
[TBL] [Abstract][Full Text] [Related]
7. Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Vieira GH; Rodriguez JD; Carmona-Mora P; Cao L; Gamba BF; Carvalho DR; de Rezende Duarte A; Santos SR; de Souza DH; DuPont BR; Walz K; Moretti-Ferreira D; Srivastava AK
Eur J Hum Genet; 2012 Feb; 20(2):148-54. PubMed ID: 21897445
[TBL] [Abstract][Full Text] [Related]
8. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.
Huang C; Yang YF; Zhang H; Xie L; Chen JL; Wang J; Tan ZP; Luo H
Genet Mol Res; 2012 Aug; 11(3):2321-7. PubMed ID: 22911601
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis and neonatal phenotype of a
Zhang P; Sun Y; Tian H; Rong L; Wang F; Yu X; Li Y; Gao J
J Genet; 2020; 99():. PubMed ID: 32661203
[TBL] [Abstract][Full Text] [Related]
10. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Girirajan S; Elsas LJ; Devriendt K; Elsea SH
J Med Genet; 2005 Nov; 42(11):820-8. PubMed ID: 15788730
[TBL] [Abstract][Full Text] [Related]
11. [Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].
Stembalska A; Jakubiak A; Śmigiel R
Med Wieku Rozwoj; 2012; 16(2):138-43. PubMed ID: 22971658
[TBL] [Abstract][Full Text] [Related]
12. Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic
Linders CC; van Eeghen AM; Zinkstok JR; van den Boogaard MJ; Boot E
Genes (Basel); 2023 Jul; 14(8):. PubMed ID: 37628566
[TBL] [Abstract][Full Text] [Related]
13. A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.
Tug E; Cine N; Aydin H
Genet Couns; 2011; 22(1):11-9. PubMed ID: 21614983
[TBL] [Abstract][Full Text] [Related]
14. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.
Gamba BF; Vieira GH; Souza DH; Monteiro FF; Lorenzini JJ; Carvalho DR; Morreti-Ferreira D
Genet Mol Res; 2011 Oct; 10(4):2664-70. PubMed ID: 22057962
[TBL] [Abstract][Full Text] [Related]
15. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
[TBL] [Abstract][Full Text] [Related]
16. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.
Vlangos CN; Wilson M; Blancato J; Smith AC; Elsea SH
Am J Med Genet A; 2005 Jan; 132A(3):278-82. PubMed ID: 15690371
[TBL] [Abstract][Full Text] [Related]
17. Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Rive Le Gouard N; Jacquinet A; Ruaud L; Deleersnyder H; Ageorges F; Gallard J; Lacombe D; Odent S; Mikaty M; Manouvrier-Hanu S; Ghoumid J; Geneviève D; Lehman N; Philip N; Edery P; Héron D; Rastel C; Chancenotte S; Thauvin-Robinet C; Faivre L; Perrin L; Verloes A
Clin Genet; 2021 Apr; 99(4):519-528. PubMed ID: 33368193
[TBL] [Abstract][Full Text] [Related]
18. Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
Korteling D; Musch JLI; Zinkstok JR; Boot E
Am J Med Genet B Neuropsychiatr Genet; 2024 Mar; 195(2):e32956. PubMed ID: 37584268
[TBL] [Abstract][Full Text] [Related]
19. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
Vlangos CN; Yim DK; Elsea SH
Mol Genet Metab; 2003 Jun; 79(2):134-41. PubMed ID: 12809645
[TBL] [Abstract][Full Text] [Related]
20. Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.
Lee CG; Park SJ; Yun JN; Yim SY; Sohn YB
J Korean Med Sci; 2012 Dec; 27(12):1586-90. PubMed ID: 23255863
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]