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Items: 1 to 20 of 143

1.

Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.

Soysal Y, Balci S, Hekimler K, Liehr T, Ewers E, Schoumans J, Bui TH, Içduygu FM, Kosyakova N, Imirzalioğlu N.

Am J Med Genet A. 2009 Dec;149A(12):2782-7. doi: 10.1002/ajmg.a.33069.

PMID:
19921639
2.

Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.

Balci S, Engiz O, Aktaş D, Vargel I, Beksaç MS, Mrasek K, Vermeesch J, Liehr T.

Am J Med Genet A. 2006 Mar 15;140(6):628-32.

PMID:
16470698
3.

Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.

Gradek GA, Kvistad PH, Houge G.

Eur J Med Genet. 2006 Jul-Aug;49(4):292-7. Epub 2005 Oct 6.

PMID:
16829350
4.

Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).

Syrrou M, Borghgraef M, Fryns JP.

Am J Med Genet. 2001 Dec 1;104(3):199-203.

PMID:
11754044
5.

An epileptic case with mosaic ring chromosome 6 and 6q terminal deletion.

Kara N, Okten G, Guneş SO, Saglam Y, Tasdemir HA, Pinarli FA.

Epilepsy Res. 2008 Aug;80(2-3):219-23. doi: 10.1016/j.eplepsyres.2008.03.020. Epub 2008 May 15.

PMID:
18485670
6.

Ring chromosome 14 with localization-related epilepsy: three cases.

Morimoto M, Usuku T, Tanaka M, Otabe O, Nishimura A, Ochi M, Takeuchi Y, Yoshioka H, Sugimoto T.

Epilepsia. 2003 Sep;44(9):1245-9.

7.

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line.

Batista DA, Escallon C, Blakemore KJ, Stetten G.

Prenat Diagn. 1995 Feb;15(2):123-7.

PMID:
7784362
8.

Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.

Brandt CA, Kierkegaard O, Hindkjaer J, Jensen PK, Pedersen S, Therkelsen AJ.

Clin Genet. 1993 Jul;44(1):26-31. Review.

PMID:
8403451
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
10.

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
11.

Mosaic trisomy of a small r(1) with an abnormal phenotype.

Dawson AJ, Konkin D, Riordan D, Chudley AE.

Am J Med Genet. 2001 Sep 15;103(1):32-5.

PMID:
11562931
12.

Mosaic trisomy r(14) associated with epilepsy and mental retardation.

Tzoufi M, Kanioglou C, Dasoula A, Asproudis I, Tsatsoulis A, Sismani C, Patsalis PC, Georgiou I, Syrrou M.

J Child Neurol. 2007 Jul;22(7):869-73.

PMID:
17715281
13.

Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.

Beaujard MP, Jouannic JM, Bessières B, Borie C, Martin-Luis I, Fallet-Bianco C, Portnoï MF.

Prenat Diagn. 2005 Jun;25(6):451-5.

PMID:
15966060
14.

Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child.

Lee MH, Park SY, Kim YM, Kim JM, Yoo KJ, Lee HH, Ryu HM.

Cytogenet Genome Res. 2005;111(2):175-8.

PMID:
16103661
15.

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.

Carella M, Spreafico F, Palumbo O, Storlazzi CT, Tabano S, Miozzo M, Miglionico L, Calvano S, Sindici G, Gamba B, Impera L, Collini P, Zelante L, Radice P, Perotti D.

Am J Med Genet A. 2010 Jul;152A(7):1756-63. doi: 10.1002/ajmg.a.33420.

PMID:
20583153
16.

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
17.

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.

18.

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.

Chen CP, Tsai CH, Chern SR, Wu PS, Su JW, Lee CC, Chen YT, Chen WL, Chen LF, Wang W.

Gene. 2013 Oct 15;529(1):163-8. doi: 10.1016/j.gene.2013.07.050. Epub 2013 Aug 8.

PMID:
23933417
19.

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
20.

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

Chen H, Tuck-Muller CM, Batista DA, Wertelecki W.

Am J Med Genet. 1995 Mar 27;56(2):219-33. Review.

PMID:
7625449

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