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Results: 1 to 20 of 108

1.

Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH.

Nucaro AL, Falchi M, Pisano T, Rossino R, Boscarelli F, Stoico G, Milia A, Montaldo C, Cianchetti C, Pruna D.

Am J Med Genet A. 2010 Jan;152A(1):234-6. doi: 10.1002/ajmg.a.33167. No abstract available.

PMID:
20034090
[PubMed - indexed for MEDLINE]
2.

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.

van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WC, Hennekam RC, Leschot NJ, Hoovers JM.

Clin Genet. 1996 Jan;49(1):49-53.

PMID:
8721573
[PubMed - indexed for MEDLINE]
3.

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Bonnet C, Zix C, Grégoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P.

Am J Med Genet A. 2006 Feb 1;140(3):233-7.

PMID:
16411200
[PubMed - indexed for MEDLINE]
4.
5.

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]
6.

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

Andrieux J, Richebourg S, Duban-Bedu B, Petit F, Leprêtre F, Sukno S, Dehouck MB, Delobel B.

Eur J Med Genet. 2008 Jul-Aug;51(4):373-81. doi: 10.1016/j.ejmg.2008.02.010. Epub 2008 Mar 28.

PMID:
18463015
[PubMed - indexed for MEDLINE]
7.

Ring chromosome 14 with epilepsy and development delay.

Sheth FJ, Soni N.

Indian Pediatr. 2006 Aug;43(8):744-5. No abstract available.

PMID:
16951445
[PubMed - indexed for MEDLINE]
Free Article
8.

Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.

Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.

Genet Couns. 2004;15(4):405-10.

PMID:
15658615
[PubMed - indexed for MEDLINE]
9.

Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12.

Davidsson J, Collin A, Oreberg M, Gisselsson D.

Clin Genet. 2008 Jan;73(1):44-9. Epub 2007 Nov 13.

PMID:
18005181
[PubMed - indexed for MEDLINE]
10.

[Ring chromosome 14].

Rudenskaia GE, Pozdniakova EO, Kharlamov DA, Vcherashniaia IuI.

Pediatriia. 1992;(3):66-9. Russian. No abstract available.

PMID:
1381073
[PubMed - indexed for MEDLINE]
11.

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT.

Am J Med Genet. 1999 Dec 22;87(5):384-90.

PMID:
10594875
[PubMed - indexed for MEDLINE]
12.

Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.

Ricard-Mousnier B, N'Guyen S, Dubas F, Pouplard F, Guichet A.

Epileptic Disord. 2007 Sep;9(3):327-31. Epub 2007 Sep 20.

PMID:
17884758
[PubMed - indexed for MEDLINE]
13.

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.

Caliebe A, Martin Subero JI, Muhle H, Gesk S, Jänig U, Krause M, Plendl H, Stephani U, Siebert R, Eckmann-Scholz C.

Eur J Med Genet. 2011 Sep-Oct;54(5):e505-9. doi: 10.1016/j.ejmg.2011.05.005. Epub 2011 Jun 16.

PMID:
21736959
[PubMed - indexed for MEDLINE]
14.

Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.

Shahwan A, Green AJ, Carey A, Stallings RL, O'Flaherty OC, King MD.

Epilepsia. 2004 Aug;45(8):997-1000.

PMID:
15270770
[PubMed - indexed for MEDLINE]
15.

Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.

Hou JW.

Chang Gung Med J. 2004 May;27(5):373-8.

PMID:
15366814
[PubMed - indexed for MEDLINE]
Free Article
16.

A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH.

Dee SL, Clark AT, Willatt LR, Yates JR.

J Med Genet. 2001 Sep;38(9):E32. No abstract available.

PMID:
11546833
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.

Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A.

J Med Genet. 2001 Dec;38(12):885-8. No abstract available.

PMID:
11768396
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Supernumerary ring chromosome in a Bednar tumor (pigmented dermatofibrosarcoma protuberans) is composed of interspersed sequences from chromosomes 17 and 22: a fluorescence in situ hybridization and comparative genomic hybridization analysis.

Nishio J, Iwasaki H, Ishiguro M, Ohjimi Y, Yo S, Isayama T, Naito M, Kikuchi M.

Genes Chromosomes Cancer. 2001 Mar;30(3):305-9.

PMID:
11170290
[PubMed - indexed for MEDLINE]
19.

Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.

Baumer A, Giovannucci Uzielli ML, Guarducci S, Lapi E, Röthlisberger B, Schinzel A.

Am J Med Genet. 2002 Nov 15;113(1):101-4.

PMID:
12400074
[PubMed - indexed for MEDLINE]
20.

De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.

Bal M, Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ.

Genet Couns. 2000;11(3):221-7. Review.

PMID:
11043430
[PubMed - indexed for MEDLINE]

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