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Items: 1 to 20 of 91

1.

Molecular mechanisms for constitutional chromosomal rearrangements in humans.

Shaffer LG, Lupski JR.

Annu Rev Genet. 2000;34:297-329. Review.

PMID:
11092830
2.

Is there an association with constitutional structural chromosomal abnormalities and hematologic neoplastic process? A short review.

Panani AD.

Ann Hematol. 2009 Apr;88(4):293-9. doi: 10.1007/s00277-008-0672-8. Epub 2009 Jan 7. Review.

PMID:
19129995
3.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA.

Hum Genet. 2007 Jul;121(6):697-709. Epub 2007 Apr 25.

4.

Chromosome abnormalities in human beings.

McFadden DE, Friedman JM.

Mutat Res. 1997 Dec 12;396(1-2):129-40. Review.

PMID:
9434864
5.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
6.

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
7.

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA.

Am J Hum Genet. 2006 Sep;79(3):500-13. Epub 2006 Jul 25. Erratum in: Am J Hum Genet. 2006 Dec;79(6):1135. Armstrong, Linlea [added].

9.

What have studies of genomic disorders taught us about our genome?

Simmons AD, Carvalho CM, Lupski JR.

Methods Mol Biol. 2012;838:1-27. doi: 10.1007/978-1-61779-507-7_1.

PMID:
22228005
10.

Genomic disorders on 22q11.

McDermid HE, Morrow BE.

Am J Hum Genet. 2002 May;70(5):1077-88. Epub 2002 Mar 29. Review.

11.

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG.

Am J Med Genet A. 2005 Apr 30;134(3):259-67.

PMID:
15723295
12.

Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using M-FISH.

Van Limbergen H, Poppe B, Michaux L, Herens C, Brown J, Noens L, Berneman Z, De Bock R, De Paepe A, Speleman F.

Genes Chromosomes Cancer. 2002 Jan;33(1):60-72.

PMID:
11746988
13.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6.

14.

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints.

Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F.

Am J Med Genet A. 2004 Jan 1;124A(1):10-8.

PMID:
14679581
15.

Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic imbalances.

Dave BJ, Sanger WG.

Semin Pediatr Neurol. 2007 Mar;14(1):2-6. Review.

PMID:
17331878
16.

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.

18.

Identification of de novo chromosomal markers and derivatives by spectral karyotyping.

Haddad BR, Schröck E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du Manoir S, Ried T.

Hum Genet. 1998 Nov;103(5):619-25.

PMID:
9860306
19.

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.

Hum Genet. 2001 Sep;109(3):286-94.

PMID:
11702209
20.

Molecular mechanisms for genomic disorders.

Inoue K, Lupski JR.

Annu Rev Genomics Hum Genet. 2002;3:199-242. Epub 2002 Apr 15. Review.

PMID:
12142364

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