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Results: 1 to 20 of 105

1.

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P.

Mol Cytogenet. 2013 Oct 30;6(1):45. doi: 10.1186/1755-8166-6-45.

PMID:
24171812
[PubMed]
Free PMC Article
2.

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG.

Genet Med. 2007 Mar;9(3):150-62.

PMID:
17413419
[PubMed - indexed for MEDLINE]
3.

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T.

J Appl Genet. 2007;48(2):167-75.

PMID:
17495351
[PubMed - indexed for MEDLINE]
4.

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM.

Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 31.

PMID:
19729913
[PubMed - indexed for MEDLINE]
5.

Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success.

Santos M, Mrasek K, Rigola MA, Starke H, Liehr T, Fuster C.

Fertil Steril. 2007 Oct;88(4):969.e11-7. Epub 2007 Apr 23.

PMID:
17451694
[PubMed - indexed for MEDLINE]
6.

Characterizing small supernumerary marker chromosomes with combination of multiple techniques.

Yu S, Fiedler SD, Brawner SJ, Joyce JM, Zhou XG, Liu HY.

Cytogenet Genome Res. 2012;136(1):6-14. doi: 10.1159/000334271. Epub 2011 Nov 23.

PMID:
22123409
[PubMed - indexed for MEDLINE]
7.

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.

Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M.

Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19.

PMID:
24357605
[PubMed - indexed for MEDLINE]
8.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.

Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5.

PMID:
23489061
[PubMed - in process]
9.

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.

Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti SM, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Malathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.

Mol Med Rep. 2010 Nov-Dec;3(6):1015-22. doi: 10.3892/mmr.2010.358. Epub 2010 Sep 10.

PMID:
21472348
[PubMed]
10.

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.

Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ.

Mol Cytogenet. 2011 Jan 14;4:2. doi: 10.1186/1755-8166-4-2.

PMID:
21235775
[PubMed]
Free PMC Article
11.

Small supernumerary marker chromosomes 1 with a normal phenotype.

Liehr T, Wegner RD, Stumm M, Martin T, Gillessen-Kaesbach G, Kosyakova N, Ewers E, Hamid AB, von Eggeling F, Hentschel J, Ziegler M, Weise A.

J Chin Med Assoc. 2010 Apr;73(4):205-7. doi: 10.1016/S1726-4901(10)70042-3.

PMID:
20457442
[PubMed - indexed for MEDLINE]
12.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H.

Genet Med. 2013 Jan;15(1):3-13. doi: 10.1038/gim.2012.78. Epub 2012 Aug 30. Review.

PMID:
22935720
[PubMed - indexed for MEDLINE]
13.

Comprehensive molecular cytogenetic analysis of sorghum genome architecture: distribution of euchromatin, heterochromatin, genes and recombination in comparison to rice.

Kim JS, Islam-Faridi MN, Klein PE, Stelly DM, Price HJ, Klein RR, Mullet JE.

Genetics. 2005 Dec;171(4):1963-76. Epub 2005 Sep 2.

PMID:
16143604
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.

Hum Genet. 2003 Dec;114(1):51-67. Epub 2003 Sep 16.

PMID:
13680362
[PubMed - indexed for MEDLINE]
15.

Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application.

Yurov YB, Laurent AM, Marcais B, Vorsanova SG, Roizes G.

Hum Genet. 1995 Mar;95(3):287-92.

PMID:
7868120
[PubMed - indexed for MEDLINE]
16.

The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.

Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.

Eur J Med Genet. 2006 May-Jun;49(3):207-14. Epub 2005 Jul 12.

PMID:
16762822
[PubMed - indexed for MEDLINE]
17.

Solanum lycopersicum cv. Heinz 1706 chromosome 6: distribution and abundance of genes and retrotransposable elements.

Peters SA, Datema E, Szinay D, van Staveren MJ, Schijlen EG, van Haarst JC, Hesselink T, Abma-Henkens MH, Bai Y, de Jong H, Stiekema WJ, Klein Lankhorst RM, van Ham RC.

Plant J. 2009 Jun;58(5):857-69. doi: 10.1111/j.1365-313X.2009.03822.x. Epub 2009 Feb 4.

PMID:
19207213
[PubMed - indexed for MEDLINE]
18.

Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH.

Am J Hum Genet. 2008 Feb;82(2):398-410. doi: 10.1016/j.ajhg.2007.10.013.

PMID:
18252220
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Molecular-cytogenetic characterization of the origin and the presence of pericentromeric euchromatin on minute supernumerary marker chromosomes (SMCs).

Liehr T, Hickmann G, Kozlowski P, Claussen U, Starke H.

Chromosome Res. 2004;12(3):239-44.

PMID:
15125637
[PubMed - indexed for MEDLINE]
20.

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.

Dalprà L, Giardino D, Finelli P, Corti C, Valtorta C, Guerneri S, Ilardi P, Fortuna R, Coviello D, Nocera G, Amico FP, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Barlati S, Bellotti D, Caufin D, Police A, Cavani S, Piombo G, Pierluigi M, Larizza L.

Genet Med. 2005 Nov-Dec;7(9):620-5.

PMID:
16301863
[PubMed - indexed for MEDLINE]
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