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Results: 1 to 20 of 98

Similar articles for PubMed (Select 22958471)

1.

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.

2.

[Stimulation of the centromedian nucleus in refractory epilepsy associated to ring chromosome 20].

Arevalo-Saenz A, Torres CV, Pastor J, Alonso-Cerezo C, Sola RG.

Rev Neurol. 2015 Jun 16;60(12):548-52. Spanish.

3.

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
4.

Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Čiuladaitė Ž, Burnytė B, Vansevičiūtė D, Dagytė E, Kučinskas V, Utkus A.

Mol Cytogenet. 2015 Apr 21;8:29. doi: 10.1186/s13039-015-0124-9. eCollection 2015.

5.

Ring 17 syndrome: first clinical report without intellectual disability.

de Palma L, De Carlo D, Lenzini E, Boniver C, Tarantino V, Bacci B, Vecchi M.

Epileptic Disord. 2015 Mar;17(1):84-7; quiz 88. doi: 10.1684/epd.2015.0726.

PMID:
25635406
6.

Azoospermia and ring chromosome 9--a case report.

Laursen RJ, Tüttelmann F, Humaidan P, Elbæk HO, Alsbjerg B, Röpke A.

J Assist Reprod Genet. 2015 Feb;32(2):293-6. doi: 10.1007/s10815-014-0388-8. Epub 2014 Dec 2. No abstract available.

PMID:
25449292
7.

Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.

Sireteanu A, Voloşciuc M, Grămescu M, Gorduza E, Vulpoi C, Frunză I, Rusu C.

Balkan J Med Genet. 2013 Dec;16(2):67-72. doi: 10.2478/bjmg-2013-0034.

8.

Ring chromosome 15: expanding the phenotype.

Eid MM, El-Bassyouni HT, Eid OM, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M.

Genet Couns. 2013;24(4):417-25.

PMID:
24551985
9.

22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.

Wang Y, Yu Y, Hu X, Li B, Qian J.

Gene. 2014 Mar 1;537(1):164-8. doi: 10.1016/j.gene.2013.11.082. Epub 2013 Dec 17.

PMID:
24361202
10.

Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.

Uwineza A, Pierquin G, Gaillez S, Jamar M, Hellin AC, Caberg JH, Bours V.

Genet Couns. 2013;24(2):193-200.

PMID:
24032290
11.

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.

López-Uriarte A, Quintero-Rivera F, de la Fuente Cortez B, Puente VG, Campos Mdel R, de Villarreal LE.

Gene. 2013 Oct 15;529(1):65-8. doi: 10.1016/j.gene.2013.06.056. Epub 2013 Jul 27.

PMID:
23895799
12.

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.

13.

Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father.

Chouery E, Choucair N, Abou Ghoch J, El Sabbagh S, Corbani S, Mégarbané A.

Mol Syndromol. 2013 Mar;4(3):136-42. doi: 10.1159/000346473. Epub 2013 Jan 15.

14.

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.

15.

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.

Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24.

PMID:
22548977
16.

Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities.

Basinko A, Giovannucci Uzielli ML, Scarselli G, Priolo M, Timpani G, De Braekeleer M.

Eur J Med Genet. 2012 Feb;55(2):112-6. doi: 10.1016/j.ejmg.2011.11.005. Epub 2011 Dec 2.

PMID:
22193390
17.

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.

18.

An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

Boutry-Kryza N, Labalme A, Till M, Schluth-Bolard C, Langue J, Turleau C, Edery P, Sanlaville D.

Am J Med Genet A. 2012 Feb;158A(2):400-5. doi: 10.1002/ajmg.a.34222. Epub 2011 Dec 7.

PMID:
22162340
19.

Autoimmune polyendocrinopathy associated with ring chromosome 18.

Jain N, Reitnauer PJ, Rao KW, Aylsworth AS, Calikoglu AS.

J Pediatr Endocrinol Metab. 2011;24(9-10):847-50.

PMID:
22145491
20.

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
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