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Results: 1 to 20 of 323

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.

PMID:
10615134
[PubMed - indexed for MEDLINE]
2.

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. Epub 2002 Oct 9.

PMID:
12375235
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. Epub 2007 Feb 26.

PMID:
17357070
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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. Epub 2003 Nov 24.

PMID:
14639526
[PubMed - indexed for MEDLINE]
Free PMC Article
5.
6.

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.

PMID:
17594399
[PubMed - indexed for MEDLINE]
7.

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.

Shaw CJ, Withers MA, Lupski JR.

Am J Hum Genet. 2004 Jul;75(1):75-81. Epub 2004 May 13.

PMID:
15148657
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Timmerman V, Löfgren A, Le Guern E, Liang P, De Jonghe P, Martin JJ, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C.

Hum Genet. 1996 Jan;97(1):26-34.

PMID:
8557256
[PubMed - indexed for MEDLINE]
9.

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
10.

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]
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.

PMID:
9326934
[PubMed - indexed for MEDLINE]
12.

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E.

Hum Mol Genet. 1998 Jan;7(1):141-8.

PMID:
9384615
[PubMed - indexed for MEDLINE]
Free Article
13.

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR.

Am J Hum Genet. 1995 Jan;56(1):91-8.

PMID:
7825607
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
16.

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 17;63(2):373-7. Erratum in: Am J Med Genet 1996 Oct 28;65(3):254.

PMID:
8725788
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
1639385
[PubMed - indexed for MEDLINE]
18.

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
19.

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Löfgren A, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C.

J Med Genet. 1997 Jan;34(1):43-9.

PMID:
9032649
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.

Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L.

Am J Med Genet A. 2005 Oct 1;138A(2):175-80. Review.

PMID:
16152635
[PubMed - indexed for MEDLINE]
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