185 related articles for article (PubMed ID: 26676648)
1. Smith-Magenis Syndrome: Face Speaks.
Gupta R; Gupta N; Nampoothiri S; Mandal K; Kishore Y; Sharma P; Kabra M; Phadke SR
Indian J Pediatr; 2016 Jun; 83(6):589-93. PubMed ID: 26676648
[TBL] [Abstract][Full Text] [Related]
2. Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.
Boggula VR; Shukla A; Danda S; Hariharan SV; Nampoothiri S; Kumar R; Phadke SR
Indian J Med Res; 2014 Jan; 139(1):66-75. PubMed ID: 24604040
[TBL] [Abstract][Full Text] [Related]
3. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman AL; Duncan WC; Smith AC
Pediatr Neurol; 2006 May; 34(5):337-50. PubMed ID: 16647992
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Smith-Magenis syndrome].
Lacombe D; Moncla A; Malzac P; Mattei MG; Battin J
Arch Pediatr; 1997 May; 4(5):438-42. PubMed ID: 9230994
[TBL] [Abstract][Full Text] [Related]
6. [Clinical and genetic study of a case with Smith-Magenis syndrome].
Shen LX; Zhang JS; Ji X; Xing Y; Hu J; Tao J; Xiao B
Zhonghua Er Ke Za Zhi; 2012 Mar; 50(3):227-30. PubMed ID: 22801211
[TBL] [Abstract][Full Text] [Related]
7. Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.
Natacci F; Corrado L; Pierri M; Rossetti M; Zuccarini C; Riva P; Miozzo M; Larizza L
Am J Med Genet; 2000 Dec; 95(5):467-72. PubMed ID: 11146468
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. [Genetic diagnosis of a case of Smith-Magenis syndrome due to a rare small-scale deletion].
Tian B; Yu D; Wang G; Huang B; Zhu C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Sep; 39(9):1005-1010. PubMed ID: 36082575
[TBL] [Abstract][Full Text] [Related]
12. [Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].
Shu H; Ye T; Liu G; Dai L; Zha P; Li X; Zhao Y; Zhu X; Zheng H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):409-412. PubMed ID: 35446977
[TBL] [Abstract][Full Text] [Related]
13. [Smith-Magenis syndrome].
Livet MO; Moncla A; Delobel B; Croquette MF; Philip N; Vallée L
Arch Pediatr; 1997 Dec; 4(12):1231-7. PubMed ID: 9538429
[TBL] [Abstract][Full Text] [Related]
14. Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
Moncla A; Livet MO; Auger M; Mattei JF; Mattei MG; Giraud F
J Med Genet; 1991 Sep; 28(9):627-32. PubMed ID: 1956064
[TBL] [Abstract][Full Text] [Related]
15. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.
Goh ES; Banwell B; Stavropoulos DJ; Shago M; Yoon G
Am J Med Genet A; 2014 Mar; 164A(3):748-52. PubMed ID: 24357149
[TBL] [Abstract][Full Text] [Related]
16. Smith-Magenis syndrome: report of one case.
Hou JW
Acta Paediatr Taiwan; 2003; 44(3):161-4. PubMed ID: 14521023
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Yeetong P; Vilboux T; Ciccone C; Boulier K; Schnur RE; Gahl WA; Huizing M; Laje G; Smith AC
Am J Med Genet A; 2016 Sep; 170(9):2383-8. PubMed ID: 27311559
[TBL] [Abstract][Full Text] [Related]
19. New developments in Smith-Magenis syndrome (del 17p11.2).
Gropman AL; Elsea S; Duncan WC; Smith AC
Curr Opin Neurol; 2007 Apr; 20(2):125-34. PubMed ID: 17351481
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]