450 related articles for article (PubMed ID: 10615134)
1. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR
Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134
[TBL] [Abstract][Full Text] [Related]
2. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?
Brown A; Phelan MC; Patil S; Crawford E; Rogers RC; Schwartz C
Am J Med Genet; 1996 May; 63(2):373-7. PubMed ID: 8725788
[TBL] [Abstract][Full Text] [Related]
5. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.
Stronach EA; Clark C; Bell C; Löfgren A; McKay NG; Timmerman V; Van Broeckhoven C; Haites NE
J Peripher Nerv Syst; 1999; 4(2):117-22. PubMed ID: 10442687
[TBL] [Abstract][Full Text] [Related]
6. Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.
Juyal RC; Kuwano A; Kondo I; Zara F; Baldini A; Patel PI
Am J Med Genet; 1996 Dec; 66(2):193-6. PubMed ID: 8958329
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
Shaw CJ; Bi W; Lupski JR
Am J Hum Genet; 2002 Nov; 71(5):1072-81. PubMed ID: 12375235
[TBL] [Abstract][Full Text] [Related]
9. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
Pentao L; Wise CA; Chinault AC; Patel PI; Lupski JR
Nat Genet; 1992 Dec; 2(4):292-300. PubMed ID: 1303282
[TBL] [Abstract][Full Text] [Related]
10. Molecular mechanisms for CMT1A duplication and HNPP deletion.
Boerkoel CF; Inoue K; Reiter LT; Warner LE; Lupski JR
Ann N Y Acad Sci; 1999 Sep; 883():22-35. PubMed ID: 10586226
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
Shaffer LG; Kennedy GM; Spikes AS; Lupski JR
Am J Med Genet; 1997 Mar; 69(3):325-31. PubMed ID: 9096765
[TBL] [Abstract][Full Text] [Related]
12. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Potocki L; Bi W; Treadwell-Deering D; Carvalho CM; Eifert A; Friedman EM; Glaze D; Krull K; Lee JA; Lewis RA; Mendoza-Londono R; Robbins-Furman P; Shaw C; Shi X; Weissenberger G; Withers M; Yatsenko SA; Zackai EH; Stankiewicz P; Lupski JR
Am J Hum Genet; 2007 Apr; 80(4):633-49. PubMed ID: 17357070
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.
Bernard R; Labelle V; Negre P; Tardieu S; Azulay JP; Malzac P; Mattéi JF; Leguern E; Philip N; Lévy N
Eur J Hum Genet; 2000 Mar; 8(3):229-35. PubMed ID: 10780790
[TBL] [Abstract][Full Text] [Related]
15. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
Lopes J; LeGuern E; Gouider R; Tardieu S; Abbas N; Birouk N; Gugenheim M; Bouche P; Agid Y; Brice A
Am J Hum Genet; 1996 Jun; 58(6):1223-30. PubMed ID: 8651299
[TBL] [Abstract][Full Text] [Related]
16. Overview of hereditary neuropathy with liability to pressure palsies.
Chance PF
Ann N Y Acad Sci; 1999 Sep; 883():14-21. PubMed ID: 10586225
[TBL] [Abstract][Full Text] [Related]
17. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
Yan J; Keener VW; Bi W; Walz K; Bradley A; Justice MJ; Lupski JR
Hum Mol Genet; 2004 Nov; 13(21):2613-24. PubMed ID: 15459175
[TBL] [Abstract][Full Text] [Related]
18. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
Inoue K; Dewar K; Katsanis N; Reiter LT; Lander ES; Devon KL; Wyman DW; Lupski JR; Birren B
Genome Res; 2001 Jun; 11(6):1018-33. PubMed ID: 11381029
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Reiter LT; Murakami T; Koeuth T; Pentao L; Muzny DM; Gibbs RA; Lupski JR
Nat Genet; 1996 Mar; 12(3):288-97. PubMed ID: 8589720
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
