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Items: 1 to 20 of 26

1.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.

PMID:
16906162
2.

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
3.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
4.

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.

Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA.

Am J Med Genet A. 2010 Dec;152A(12):3148-53. doi: 10.1002/ajmg.a.33738. Review.

PMID:
21108400
5.

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Shaw CJ, Lupski JR.

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. Epub 2004 Feb 5. Review.

PMID:
14764619
6.

The use of genomic microarrays to study chromosomal abnormalities in mental retardation.

Mao R, Pevsner J.

Ment Retard Dev Disabil Res Rev. 2005;11(4):279-85. Review.

PMID:
16240409
7.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.

Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Review.

PMID:
22083797
8.

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.

Vissers LE, de Vries BB, Veltman JA.

J Med Genet. 2010 May;47(5):289-97. doi: 10.1136/jmg.2009.072942. Epub 2009 Nov 30. Review.

PMID:
19951919
9.

Genomic and clinical characteristics of microduplications in chromosome 17.

Shchelochkov OA, Cheung SW, Lupski JR.

Am J Med Genet A. 2010 May;152A(5):1101-10. doi: 10.1002/ajmg.a.33248. Review.

PMID:
20425816
11.

Identification of disease genes by whole genome CGH arrays.

Vissers LE, Veltman JA, van Kessel AG, Brunner HG.

Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R215-23. Review.

PMID:
16244320
12.

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 14;883:22-35. Review.

PMID:
10586226
13.

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

Stankiewicz P, Inoue K, Bi W, Walz K, Park SS, Kurotaki N, Shaw CJ, Fonseca P, Yan J, Lee JA, Khajavi M, Lupski JR.

Cold Spring Harb Symp Quant Biol. 2003;68:445-54. Review. No abstract available.

PMID:
15338647
14.

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

Mefford HC.

Genet Med. 2009 Dec;11(12):836-42. doi: 10.1097/GIM.0b013e3181c175d2. Review.

PMID:
20010361
15.

Segmental duplications: an 'expanding' role in genomic instability and disease.

Emanuel BS, Shaikh TH.

Nat Rev Genet. 2001 Oct;2(10):791-800. Review.

PMID:
11584295
16.

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P.

PLoS Genet. 2005 Dec;1(6):e49. Review.

17.

Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR.

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

PMID:
11818139
18.

Recent duplication, domain accretion and the dynamic mutation of the human genome.

Eichler EE.

Trends Genet. 2001 Nov;17(11):661-9. Review.

PMID:
11672867
19.

Microdeletion and microduplication syndromes.

Weise A, Mrasek K, Klein E, Mulatinho M, Llerena JC Jr, Hardekopf D, Pekova S, Bhatt S, Kosyakova N, Liehr T.

J Histochem Cytochem. 2012 May;60(5):346-58. doi: 10.1369/0022155412440001. Epub 2012 Mar 6. Review.

20.

[Development and application of bacterial artificial chromosome (BAC)-based CGH-array].

Imoto I, Inazawa J.

Tanpakushitsu Kakusan Koso. 2005 Dec;50(16 Suppl):2134-9. Review. Japanese. No abstract available.

PMID:
16411442

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