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Items: 1 to 20 of 58

1.

Structural variants: changing the landscape of chromosomes and design of disease studies.

Feuk L, Marshall CR, Wintle RF, Scherer SW.

Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. Review.

PMID:
16651370
2.

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH.

Hum Mutat. 2006 May;27(5):467-73.

PMID:
16619270
3.

Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays.

Wirtenberger M, Hemminki K, Burwinkel B.

Am J Hum Genet. 2006 Mar;78(3):520-2. No abstract available.

4.

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR.

J Med Genet. 2006 Aug;43(8):625-33. Epub 2006 Feb 20.

5.

Common deletion polymorphisms in the human genome.

McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM; International HapMap Consortium.

Nat Genet. 2006 Jan;38(1):86-92.

PMID:
16468122
6.

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N.

Am J Med Genet A. 2006 Feb 1;140(3):205-11.

PMID:
16419101
7.

Structural variation in the human genome.

Feuk L, Carson AR, Scherer SW.

Nat Rev Genet. 2006 Feb;7(2):85-97. Review.

PMID:
16418744
8.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.

Am J Hum Genet. 2006 Feb;78(2):303-14. Epub 2005 Dec 29.

9.

Widening the spectrum of human genetic variation.

Eichler EE.

Nat Genet. 2006 Jan;38(1):9-11. No abstract available.

PMID:
16380720
10.

Trisomy 16p: a longitudinal profile and photo essay.

Sommer A, Pastore M, Wenger G.

Am J Med Genet A. 2006 Jan 15;140(2):174-9.

PMID:
16353251
11.

Common deletions and SNPs are in linkage disequilibrium in the human genome.

Hinds DA, Kloek AP, Jen M, Chen X, Frazer KA.

Nat Genet. 2006 Jan;38(1):82-5. Epub 2005 Dec 4.

PMID:
16327809
12.

A high-resolution survey of deletion polymorphism in the human genome.

Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK.

Nat Genet. 2006 Jan;38(1):75-81. Epub 2005 Dec 4.

PMID:
16327808
13.

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.

Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC.

J Med Genet. 2005 Dec;42(12):e70.

14.

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.

Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E.

Am J Med Genet A. 2005 Dec 15;139(3):173-85.

PMID:
16283669
15.

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo KH, Kennedy GC.

Am J Hum Genet. 2005 Nov;77(5):709-26. Epub 2005 Sep 16. Erratum in: Am J Hum Genet. 2006 Mar;78(3):526.

16.

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
17.

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J.

Neurology. 2005 Nov 8;65(9):1364-9. Epub 2005 Oct 12.

PMID:
16221952
18.

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA.

Am J Hum Genet. 2005 Oct;77(4):606-16. Epub 2005 Aug 30.

19.

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M.

J Med Genet. 2005 Sep;42(9):699-705.

20.

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays.

Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S.

Cancer Res. 2005 Jul 15;65(14):6071-9.

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