152 related articles for article (PubMed ID: 24788350)
21. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Bi W; Yan J; Stankiewicz P; Park SS; Walz K; Boerkoel CF; Potocki L; Shaffer LG; Devriendt K; Nowaczyk MJ; Inoue K; Lupski JR
Genome Res; 2002 May; 12(5):713-28. PubMed ID: 11997338
[TBL] [Abstract][Full Text] [Related]
22. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
Madduri N; Peters SU; Voigt RG; Llorente AM; Lupski JR; Potocki L
J Dev Behav Pediatr; 2006 Jun; 27(3):188-92. PubMed ID: 16775514
[TBL] [Abstract][Full Text] [Related]
23. Definition of the critical interval for Smith-Magenis syndrome.
Elsea SH; Purandare SM; Adell RA; Juyal RC; Davis JG; Finucane B; Magenis RE; Patel PI
Cytogenet Cell Genet; 1997; 79(3-4):276-81. PubMed ID: 9605871
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
Chinen J; Martinez-Gallo M; Gu W; Cols M; Cerutti A; Radigan L; Zhang L; Potocki L; Withers M; Lupski JR; Cunningham-Rundles C
J Allergy Clin Immunol; 2011 Jun; 127(6):1579-86. PubMed ID: 21514638
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Smith-Magenis syndrome and growth hormone deficiency.
Spadoni E; Colapietro P; Bozzola M; Marseglia GL; Repossi L; Danesino C; Larizza L; Maraschio P
Eur J Pediatr; 2004 Jul; 163(7):353-8. PubMed ID: 15138811
[TBL] [Abstract][Full Text] [Related]
28. [Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].
Poisson A; Nicolas A; Sanlaville D; Cochat P; De Leersnyder H; Rigard C; Franco P; des Portes V; Edery P; Demily C
Arch Pediatr; 2015 Jun; 22(6):638-45. PubMed ID: 25934608
[TBL] [Abstract][Full Text] [Related]
29. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.
Sanford EF; Bermudez-Wagner K; Jeng LJ; Rauen KA; Slavotinek AM
Am J Med Genet A; 2011 Nov; 155A(11):2816-20. PubMed ID: 21965155
[TBL] [Abstract][Full Text] [Related]
30. Autism spectrum features in Smith-Magenis syndrome.
Laje G; Morse R; Richter W; Ball J; Pao M; Smith AC
Am J Med Genet C Semin Med Genet; 2010 Nov; 154C(4):456-62. PubMed ID: 20981775
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
Chen KS; Gunaratne PH; Hoheisel JD; Young IG; Miklos GL; Greenberg F; Shaffer LG; Campbell HD; Lupski JR
Am J Hum Genet; 1995 Jan; 56(1):175-82. PubMed ID: 7825574
[TBL] [Abstract][Full Text] [Related]
34. [Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype].
Blanco-Barca O; Gallego-Blanco M; Ruiz-Ponte C; Barros-Angueira F; Esquete-López C; Eirís-Puñal J; Castro-Gago M
Rev Neurol; 2004 Jun 1-15; 38(11):1038-42. PubMed ID: 15202082
[TBL] [Abstract][Full Text] [Related]
35. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
Boudreau EA; Johnson KP; Jackman AR; Blancato J; Huizing M; Bendavid C; Jones M; Chandrasekharappa SC; Lewy AJ; Smith AC; Magenis RE
Am J Med Genet A; 2009 Jul; 149A(7):1382-91. PubMed ID: 19530184
[TBL] [Abstract][Full Text] [Related]
36. Smith-Magenis syndrome with bilateral vesicoureteral reflux: a case report.
Chou IC; Tsai FJ; Yu MT; Tsai CH
J Formos Med Assoc; 2002 Oct; 101(10):726-8. PubMed ID: 12517050
[TBL] [Abstract][Full Text] [Related]
37. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Potocki L; Glaze D; Tan DX; Park SS; Kashork CD; Shaffer LG; Reiter RJ; Lupski JR
J Med Genet; 2000 Jun; 37(6):428-33. PubMed ID: 10851253
[TBL] [Abstract][Full Text] [Related]
38. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.
Alaimo JT; Barton LV; Mullegama SV; Wills RD; Foster RH; Elsea SH
Res Dev Disabil; 2015 Dec; 47():27-38. PubMed ID: 26323055
[TBL] [Abstract][Full Text] [Related]
39. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Elsea SH; Williams SR
Expert Rev Mol Med; 2011 Apr; 13():e14. PubMed ID: 21545756
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
