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Results: 1 to 20 of 59

1.

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

MacArthur JA, Spector TD, Lindsay SJ, Mangino M, Gill R, Small KS, Hurles ME.

PLoS Genet. 2014 Mar 6;10(3):e1004195. doi: 10.1371/journal.pgen.1004195. eCollection 2014 Mar.

PMID:
24603440
[PubMed - in process]
Free PMC Article
2.

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA.

PLoS One. 2014 Jan 15;9(1):e85600. doi: 10.1371/journal.pone.0085600. eCollection 2014.

PMID:
24454898
[PubMed - in process]
Free PMC Article
3.

Malignant transformation potentials of human umbilical cord mesenchymal stem cells both spontaneously and via 3-methycholanthrene induction.

Tang Q, Chen Q, Lai X, Liu S, Chen Y, Zheng Z, Xie Q, Maldonado M, Cai Z, Qin S, Ho G, Ma L.

PLoS One. 2013 Dec 10;8(12):e81844. doi: 10.1371/journal.pone.0081844. eCollection 2013.

PMID:
24339974
[PubMed - in process]
Free PMC Article
4.

Disorders caused by chromosome abnormalities.

Theisen A, Shaffer LG.

Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884. Print 2010.

PMID:
23776360
[PubMed]
Free PMC Article
5.

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S.

Am J Hum Genet. 2013 Jul 11;93(1):67-77. doi: 10.1016/j.ajhg.2013.05.015. Epub 2013 Jun 13.

PMID:
23768516
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

New insights into the troubles of aneuploidy.

Siegel JJ, Amon A.

Annu Rev Cell Dev Biol. 2012;28:189-214. doi: 10.1146/annurev-cellbio-101011-155807. Epub 2012 Jul 9. Review.

PMID:
22804579
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Conditional gene manipulation: Cre-ating a new biological era.

Zhang J, Zhao J, Jiang WJ, Shan XW, Yang XM, Gao JG.

J Zhejiang Univ Sci B. 2012 Jul;13(7):511-24. doi: 10.1631/jzus.B1200042. Review.

PMID:
22761243
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder.

Graw SL, Swisshelm K, Floyd K, Carstens BJ, Wamboldt MZ, Ross RG, Leonard S.

Mol Cytogenet. 2012 Jan 3;5(1):2. doi: 10.1186/1755-8166-5-2.

PMID:
22214315
[PubMed]
Free PMC Article
9.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

Wincent J, Bruno DL, van Bon BW, Bremer A, Stewart H, Bongers EM, Ockeloen CW, Willemsen MH, Keays DD, Baird G, Newbury DF, Kleefstra T, Marcelis C, Kini U, Stark Z, Savarirayan R, Sheffield LJ, Zuffardi O, Slater HR, de Vries BB, Knight SJ, Anderlid BM, Schoumans J.

Mol Syndromol. 2010;1(5):246-254. Epub 2011 May 18.

PMID:
22140377
[PubMed]
Free PMC Article
10.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

PMID:
21948486
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

Kato T, Inagaki H, Tong M, Kogo H, Ohye T, Yamada K, Tsutsumi M, Emanuel BS, Kurahashi H.

Mol Cytogenet. 2011 Sep 8;4:18. doi: 10.1186/1755-8166-4-18.

PMID:
21899780
[PubMed]
Free PMC Article
12.

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK.

Hum Mol Genet. 2011 Oct 1;20(19):3769-78. doi: 10.1093/hmg/ddr293. Epub 2011 Jul 4.

PMID:
21729882
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.

Aktas D, Utine EG, Mrasek K, Weise A, von Eggeling F, Yalaz K, Posorski N, Akarsu N, Alikasifoglu M, Liehr T, Tuncbilek E.

Mol Cytogenet. 2010 May 28;3(1):10. doi: 10.1186/1755-8166-3-10.

PMID:
20509907
[PubMed]
Free PMC Article
14.

The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.

Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS.

Clin Genet. 2010 Oct;78(4):299-309. doi: 10.1111/j.1399-0004.2010.01445.x. Review.

PMID:
20507342
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The mechanism of expansion and the volatility it created in three pheromone gene clusters in the mouse (Mus musculus) genome.

Karn RC, Laukaitis CM.

Genome Biol Evol. 2009 Nov 20;1:494-503. doi: 10.1093/gbe/evp049.

PMID:
20333217
[PubMed]
Free PMC Article
16.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG.

Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4.

PMID:
20206336
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes.

Carmona-Mora P, Molina J, Encina CA, Walz K.

Curr Genomics. 2009 Jun;10(4):259-68. doi: 10.2174/138920209788488508.

PMID:
19949547
[PubMed]
Free PMC Article
18.

The transposon Galileo generates natural chromosomal inversions in Drosophila by ectopic recombination.

Delprat A, Negre B, Puig M, Ruiz A.

PLoS One. 2009 Nov 18;4(11):e7883. doi: 10.1371/journal.pone.0007883.

PMID:
19936241
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Gene copy number variation throughout the Plasmodium falciparum genome.

Cheeseman IH, Gomez-Escobar N, Carret CK, Ivens A, Stewart LB, Tetteh KK, Conway DJ.

BMC Genomics. 2009 Aug 4;10:353. doi: 10.1186/1471-2164-10-353.

PMID:
19653891
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Molecular cytogenetics and cytogenomics of brain diseases.

Iourov IY, Vorsanova SG, Yurov YB.

Curr Genomics. 2008 Nov;9(7):452-65. doi: 10.2174/138920208786241216.

PMID:
19506734
[PubMed]
Free PMC Article

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