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Results: 1 to 20 of 25

1.

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG.

Hum Mol Genet. 2003 Sep 1;12(17):2145-52. Epub 2003 Jul 15.

PMID:
12915473
[PubMed - indexed for MEDLINE]
Free Article
2.

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR.

Am J Hum Genet. 2003 May;72(5):1101-16. Epub 2003 Mar 20.

PMID:
12649807
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
11997339
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
11997338
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A transcriptional profile of multicellular development in Dictyostelium discoideum.

Van Driessche N, Shaw C, Katoh M, Morio T, Sucgang R, Ibarra M, Kuwayama H, Saito T, Urushihara H, Maeda M, Takeuchi I, Ochiai H, Eaton W, Tollett J, Halter J, Kuspa A, Tanaka Y, Shaulsky G.

Development. 2002 Apr;129(7):1543-52.

PMID:
11923193
[PubMed - indexed for MEDLINE]
Free Article
6.

Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR.

Trends Genet. 2002 Feb;18(2):74-82. Review.

PMID:
11818139
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
11381029
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlén S, Blennow E, Albertson DG, Pinkel D, Dumanski JP.

Hum Mol Genet. 2001 Feb 1;10(3):271-82.

PMID:
11159946
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
10615134
[PubMed - indexed for MEDLINE]
10.

Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals.

Kirchhoff M, Gerdes T, Maahr J, Rose H, Bentz M, Döhner H, Lundsteen C.

Genes Chromosomes Cancer. 1999 Aug;25(4):410-3.

PMID:
10398439
[PubMed - indexed for MEDLINE]
11.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR.

Am J Hum Genet. 1999 Feb;64(2):471-8.

PMID:
9973284
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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. Erratum in: Cytogenet Cell Genet 1998;81(1):67.

PMID:
9605871
[PubMed - indexed for MEDLINE]
13.

Minimal sizes of deletions detected by comparative genomic hybridization.

Bentz M, Plesch A, Stilgenbauer S, Döhner H, Lichter P.

Genes Chromosomes Cancer. 1998 Feb;21(2):172-5.

PMID:
9491330
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
9326934
[PubMed - indexed for MEDLINE]
15.

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 31;69(3):325-31.

PMID:
9096765
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
8651284
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

DNA deletion associated with hereditary neuropathy with liability to pressure palsies.

Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD.

Cell. 1993 Jan 15;72(1):143-51.

PMID:
8422677
[PubMed - indexed for MEDLINE]
18.

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR.

Am J Hum Genet. 1993 Oct;53(4):853-63.

PMID:
8105684
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR.

Hum Mol Genet. 1994 Feb;3(2):223-8.

PMID:
8004087
[PubMed - indexed for MEDLINE]
20.

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM, et al.

Am J Med Genet. 1986 Jul;24(3):421-32.

PMID:
3728561
[PubMed - indexed for MEDLINE]

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