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Items: 1 to 20 of 144

1.

Delineation of a ring chromosome 16 by the FISH-technique: a case report with review.

Conte RA, Kleyman SM, Kharode C, Verma RS.

Clin Genet. 1997 Mar;51(3):196-9.

PMID:
9137886
2.

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
3.

Fluorescence in situ hybridization detection of two telomeres on the short arm of a derived chromosome 16 in an infant with thrombocytopenia.

Gribble S, Andrews K, Williams D, Tillett A, Bloxham D, Proffit J, Hackbarth M, Grace C, Green A, Nacheva E.

Cancer Genet Cytogenet. 2000 Jul 15;120(2):99-104.

PMID:
10942798
4.

Loss of telomeric sequences in a ring derived from chromosome 8 in refractory anemia with excess of blasts in transformation.

Fugazza G, Bruzzone R, Sessarego M.

Cancer Genet Cytogenet. 1996 Jul 1;89(1):31-3.

PMID:
8689606
5.

[Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome].

Zhu XY, Zhao R, Ye ZC, Peng YG, Tan YQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):682-3. Chinese.

PMID:
16331572
6.

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.

7.

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.

Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV.

Am J Med Genet A. 2004 Sep 1;129A(3):316-20.

PMID:
15326636
8.

16q subtelomeric deletion in proband with congenital malformations and mental retardation.

Vorsanova SG, Yurov YB, Kolotii AD, Demidova IA, Novikova IM.

Tsitol Genet. 2000 Nov-Dec;34(6):72-4.

PMID:
11394378
9.

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
10.

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome.

Kulikowski LD, Christ LA, Nogueira SI, Brunoni D, Schwartz S, Melaragno MI.

Am J Med Genet A. 2006 Jan 1;140(1):82-7.

PMID:
16333825
11.

Two unbalanced segregation products due to a maternal t(7;16)inv(16).

Leegte B, Sikkema-Raddatz B, Hordijk R, Davelaar I, van der Veen A, Cobben JM.

Prenat Diagn. 2001 Jul;21(7):550-2.

PMID:
11494289
12.

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
13.

Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation.

Muroya K, Yamamoto K, Fukushima Y, Ogata T.

Am J Med Genet. 2002 Jul 15;110(4):332-7.

PMID:
12116206
14.

A boy with small supernumerary marker chromosome X identified by FISH.

Koç A, Yirmibeş Karaoğuz M, Pala E, Kan D, Karaer K, Gücüyener K, Perçin EF.

Genet Couns. 2007;18(4):393-9.

PMID:
18286820
15.

Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins.

Shanske AL, Dowling P, Schmidt R, White BJ, Russell B, Bogdanow A, Marion RW.

J Med Genet. 1999 Aug;36(8):625-8.

16.

Frequency of chromosome healing and interstitial telomeres in 40 cases of constitutional abnormalities.

Fortin F, Beaulieu Bergeron M, Fetni R, Lemieux N.

Cytogenet Genome Res. 2009;125(3):176-85. doi: 10.1159/000230002. Epub 2009 Sep 4.

PMID:
19738378
18.

"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.

Kosho T, Matsushima K, Sahashi T, Mitsui N, Fukushima Y, Sobajima H, Ohashi H.

Genet Couns. 2005;16(1):65-70. Review.

PMID:
15844781
19.

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

Brown J, Horsley SW, Jung C, Saracoglu K, Janssen B, Brough M, Daschner M, Beedgen B, Kerkhoffs G, Eils R, Harris PC, Jauch A, Kearney L.

Eur J Hum Genet. 2000 Dec;8(12):903-10.

20.

Familial ring (19) chromosome mosaicism: case report and review.

Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D.

Am J Med Genet. 1996 Dec 18;66(3):276-80. Review.

PMID:
8985487

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