Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 120

Similar articles for PubMed (Select 20979193)

1.

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.

Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, Christofolini DM, Pellegrino R, de Mello CB, Conlin LK, Hutchinson AL, Spinner NB, Brunoni D, Kulikowski LD, Melaragno MI.

Am J Med Genet A. 2010 Nov;152A(11):2865-9. doi: 10.1002/ajmg.a.33689.

PMID:
20979193
2.

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

Sarri C, Douzgou S, Kontos H, Anagnostopoulou K, Tümer Z, Grigoriadou M, Petersen MB, Kokotas H, Merou K, Pandelia E, Giouroukou E, Papanikolaou K, Côté GB, Gyftodimou Y.

Cytogenet Genome Res. 2015;145(1):6-13. doi: 10.1159/000382046. Epub 2015 May 14.

PMID:
25997743
3.

Ring in the new.

Hillman BJ.

J Am Coll Radiol. 2015 Jan;12(1):3. doi: 10.1016/j.jacr.2014.10.005. No abstract available.

PMID:
25557563
4.

Ring 18 molecular assessment and clinical consequences.

Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD.

Am J Med Genet A. 2015 Jan;167A(1):54-63. doi: 10.1002/ajmg.a.36822. Epub 2014 Oct 22.

PMID:
25339348
5.

Developing with ring 14 syndrome: a survey in different countries.

Zampini L, Zanchi P, D'Odorico L.

Clin Linguist Phon. 2014 Nov;28(11):844-56. doi: 10.3109/02699206.2014.911963. Epub 2014 Apr 29.

PMID:
24779649
6.

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI.

Am J Med Genet A. 2014 Jul;164A(7):1659-65. doi: 10.1002/ajmg.a.36512. Epub 2014 Apr 3.

PMID:
24700634
7.

Formation of a familial ring chromosome 18 investigated by SNP-array analysis.

Balci S, Zschocke J, Kotzot D, Ergün MA, Spreiz A.

Am J Med Genet A. 2014 Jul;164A(7):1854-6. doi: 10.1002/ajmg.a.36496. Epub 2014 Mar 26. No abstract available.

PMID:
24677800
8.

Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report.

Incecik F, Hergüner MO, Mert G, Erdem S, Altunbaşak S.

Turk J Pediatr. 2013 Sep-Oct;55(5):549-51.

9.

First report of a small supernumerary der(8;14) marker chromosome.

Guilherme RS, Dutra AR, Perez AB, Takeno SS, Oliveira MM, Kulikowski LD, Klein E, Hamid AB, Liehr T, Melaragno MI.

Cytogenet Genome Res. 2013;139(4):284-8. doi: 10.1159/000348743. Epub 2013 Mar 23.

PMID:
23548553
10.

Ring chromosome 10: report on two patients and review of the literature.

Guilherme RS, Kim CA, Alonso LG, Honjo RS, Meloni VA, Christofolini DM, Kulikowski LD, Melaragno MI.

J Appl Genet. 2013 Feb;54(1):35-41. doi: 10.1007/s13353-012-0128-7. Epub 2012 Dec 18. Review.

PMID:
23247912
11.

Molecular and clinical characterization of patients with a ring chromosome 11.

Hansson KB, Gijsbers AC, Oostdijk W, Rehbock JJ, de Snoo F, Ruivenkamp CA, Kant SG.

Eur J Med Genet. 2012 Dec;55(12):708-14. doi: 10.1016/j.ejmg.2012.08.004. Epub 2012 Aug 23.

PMID:
22975011
12.

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.

Guilherme RS, Meloni Vde F, Takeno SS, Pellegrino R, Brunoni D, Kulikowski LD, Melaragno MI.

J Med Case Rep. 2012 Sep 7;6:283.

13.

Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.

Belangero SI, Pacanaro AN, Bellucco FT, Christofolini DM, Kulikowski LD, Guilherme RS, Bortolai A, Dutra AR, Piazzon FB, Cernach MC, Melaragno MI.

Cytogenet Genome Res. 2012;138(1):5-10. doi: 10.1159/000341570. Epub 2012 Aug 10.

PMID:
22890013
14.

Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.

Zhang HZ, Xu F, Seashore M, Li P.

Cytogenet Genome Res. 2012;136(3):180-7. doi: 10.1159/000336978. Epub 2012 Mar 7.

PMID:
22398511
15.

Ring in the new.

Kueckmann T.

Chem Asian J. 2012 Jan 2;7(1):4-5. doi: 10.1002/asia.201100973. No abstract available.

PMID:
22190511
16.

Mechanisms of ring chromosome formation, ring instability and clinical consequences.

Guilherme RS, Meloni VF, Kim CA, Pellegrino R, Takeno SS, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Melaragno MI.

BMC Med Genet. 2011 Dec 21;12:171. doi: 10.1186/1471-2350-12-171.

17.

Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.

Slavin TP, Kuruvilla K, Curtis CA, Christ LA, Mitchell AL.

Am J Med Genet A. 2011 Mar;155A(3):618-21. doi: 10.1002/ajmg.a.33816. Epub 2011 Feb 22.

18.

Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Tsai LP, Lee KF, Fang JS, Liu IY.

Mol Cytogenet. 2011 Feb 8;4(1):5. doi: 10.1186/1755-8166-4-5.

19.

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB.

J Med Genet. 2011 Jan;48(1):1-9. doi: 10.1136/jmg.2010.080382. Epub 2010 Oct 23.

PMID:
20972251
20.

Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

Nik-Zainal S, Cotter PE, Willatt LR, Abbott K, O'Brien EW.

Eur J Med Genet. 2011 Jan-Feb;54(1):97-101. doi: 10.1016/j.ejmg.2010.09.014. Epub 2010 Oct 8.

PMID:
20933620
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk