162 related articles for article (PubMed ID: 7633408)
1. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients.
Zhao Z; Lee CC; Jiralerspong S; Juyal RC; Lu F; Baldini A; Greenberg F; Caskey CT; Patel PI
Hum Mol Genet; 1995 Apr; 4(4):589-97. PubMed ID: 7633408
[TBL] [Abstract][Full Text] [Related]
2. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Juyal RC; Figuera LE; Hauge X; Elsea SH; Lupski JR; Greenberg F; Baldini A; Patel PI
Am J Hum Genet; 1996 May; 58(5):998-1007. PubMed ID: 8651284
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).
Smith AC; Dykens E; Greenberg F
Am J Med Genet; 1998 Mar; 81(2):179-85. PubMed ID: 9613859
[TBL] [Abstract][Full Text] [Related]
5. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.
Lucas RE; Vlangos CN; Das P; Patel PI; Elsea SH
Eur J Hum Genet; 2001 Dec; 9(12):892-902. PubMed ID: 11840190
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
Elsea SH; Juyal RC; Jiralerspong S; Finucane BM; Pandolfo M; Greenberg F; Baldini A; Stover P; Patel PI
Am J Hum Genet; 1995 Dec; 57(6):1342-50. PubMed ID: 8533763
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Chen KS; Manian P; Koeuth T; Potocki L; Zhao Q; Chinault AC; Lee CC; Lupski JR
Nat Genet; 1997 Oct; 17(2):154-63. PubMed ID: 9326934
[TBL] [Abstract][Full Text] [Related]
12. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
Bi W; Park SS; Shaw CJ; Withers MA; Patel PI; Lupski JR
Am J Hum Genet; 2003 Dec; 73(6):1302-15. PubMed ID: 14639526
[TBL] [Abstract][Full Text] [Related]
13. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Park SS; Stankiewicz P; Bi W; Shaw C; Lehoczky J; Dewar K; Birren B; Lupski JR
Genome Res; 2002 May; 12(5):729-38. PubMed ID: 11997339
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2.
Koyama K; Fukushima Y; Inazawa J; Tomotsune D; Takahashi N; Nakamura Y
Cytogenet Cell Genet; 1996; 72(1):78-82. PubMed ID: 8565641
[TBL] [Abstract][Full Text] [Related]
16. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
Guzzetta V; Franco B; Trask BJ; Zhang H; Saucedo-Cardenas O; Montes de Oca-Luna R; Greenberg F; Chinault AC; Lupski JR; Patel PI
Genomics; 1992 Jul; 13(3):551-9. PubMed ID: 1639385
[TBL] [Abstract][Full Text] [Related]
17. Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.
Vlangos CN; Das P; Patel PI; Elsea SH
Cytogenet Cell Genet; 2000; 88(3-4):283-5. PubMed ID: 10828610
[No Abstract] [Full Text] [Related]
18. RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients.
Seranski P; Hoff C; Radelof U; Hennig S; Reinhardt R; Schwartz CE; Heiss NS; Poustka A
Gene; 2001 May; 270(1-2):69-76. PubMed ID: 11404004
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
