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Results: 1 to 20 of 160

1.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A.

BMC Med Genomics. 2013 Feb 11;6:3. doi: 10.1186/1755-8794-6-3.

PMID:
23398904
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Ring chromosome 15: characterization by array CGH.

Glass IA, Rauen KA, Chen E, Parkes J, Alberston DG, Pinkel D, Cotter PD.

Hum Genet. 2006 Jan;118(5):611-7. Epub 2005 Nov 3.

PMID:
16267671
[PubMed - indexed for MEDLINE]
3.

De novo ring chromosome 6 in a child with multiple congenital anomalies.

Ahzad HA, Ramli SF, Loong TM, Salahshourifar I, Zilfalil BA, Yusoff NM.

Kobe J Med Sci. 2010 Sep 28;56(2):E79-84. Review.

PMID:
21063149
[PubMed - indexed for MEDLINE]
Free Article
4.

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F.

Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414.

PMID:
18629875
[PubMed - indexed for MEDLINE]
5.

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.

Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF.

Eur J Med Genet. 2005 Jul-Sep;48(3):310-8.

PMID:
16179226
[PubMed - indexed for MEDLINE]
6.

Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.

Eyüpoğlu FC, Sünnetçi D, Cine N, Savli H, Okten A, Açikgöz EG, Sönmez FM.

Genet Couns. 2014;25(3):305-13.

PMID:
25365853
[PubMed - indexed for MEDLINE]
7.

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

Erdel M, Duba HC, Verdorfer I, Lingenhel A, Geiger R, Gutenberger KH, Ludescher E, Utermann B, Utermann G.

Hum Genet. 1997 May;99(5):596-601.

PMID:
9150724
[PubMed - indexed for MEDLINE]
8.

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K.

Eur J Hum Genet. 2007 May;15(5):548-55. Epub 2007 Mar 7.

PMID:
17342151
[PubMed - indexed for MEDLINE]
Free Article
9.

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

Lo-Castro A, El-Malhany N, Galasso C, Verrotti A, Nardone AM, Postorivo D, Palmieri C, Curatolo P.

Eur J Med Genet. 2011 May-Jun;54(3):329-32. doi: 10.1016/j.ejmg.2011.02.004. Epub 2011 Feb 17.

PMID:
21333764
[PubMed - indexed for MEDLINE]
10.

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

Klein OD, Cotter PD, Moore MW, Zanko A, Gilats M, Epstein CJ, Conte F, Rauen KA.

Clin Genet. 2007 Mar;71(3):260-6.

PMID:
17309649
[PubMed - indexed for MEDLINE]
11.

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC.

Eur J Med Genet. 2007 Jan-Feb;50(1):73-8. Epub 2006 Oct 11.

PMID:
17194633
[PubMed - indexed for MEDLINE]
12.

SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers.

Reddy KS, Wang S, Groh S, Gonatos J.

Am J Med Genet A. 2003 Apr 15;118A(2):156-71. Review.

PMID:
12655496
[PubMed - indexed for MEDLINE]
13.

[Combined spectral karyotyping and microarray-based comparative genomic hybridization for the diagnosis of a case with ring chromosome 15].

Pan M, Choy KW, Liao C, Lau TK.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):562-5. doi: 10.3760/cma.j.issn.1003-9406.2012.05.013. Chinese.

PMID:
23042394
[PubMed - indexed for MEDLINE]
14.

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D.

J Med Genet. 2007 Jan;44(1):e60.

PMID:
17209130
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR.

Am J Med Genet A. 2004 Jan 30;124A(3):280-7. Review.

PMID:
14708101
[PubMed - indexed for MEDLINE]
16.

Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.

Su PH, Chen CP, Su YN, Chen SJ, Lin LL, Chen JY.

Genet Mol Res. 2013 Apr 25;12(2):1311-7. doi: 10.4238/2013.April.25.2.

PMID:
23661454
[PubMed - indexed for MEDLINE]
Free Article
17.

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E.

BMC Med Genet. 2009 Sep 22;10:97. doi: 10.1186/1471-2350-10-97.

PMID:
19772601
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.

Guilherme RS, Bragagnolo S, Pellegrino R, Christofolini DM, Takeno SS, Carvolheira GM, Kulikowski LD, Melaragno MI.

Cytogenet Genome Res. 2011;134(4):325-30. doi: 10.1159/000329478. Epub 2011 Aug 17. Review.

PMID:
21849783
[PubMed - indexed for MEDLINE]
19.

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

Guediche N, Brisset S, Benichou JJ, Guérin N, Mabboux P, Maurin ML, Bas C, Laroudie M, Picone O, Goldszmidt D, Prévot S, Labrune P, Tachdjian G.

Am J Med Genet A. 2010 Feb;152A(2):464-71. doi: 10.1002/ajmg.a.33250.

PMID:
20101685
[PubMed - indexed for MEDLINE]
20.

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B.

Ann Genet. 2004 Jul-Sep;47(3):241-9. Review.

PMID:
15337469
[PubMed - indexed for MEDLINE]

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