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Items: 1 to 20 of 100

1.

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.

Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.

Mol Cytogenet. 2012 Jan 16;5:3. doi: 10.1186/1755-8166-5-3.

2.

The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey.

Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, Ghanbari A, Engur A, Kayserili H, Yuksel-Apak M, Basaran S.

Eur J Med Genet. 2006 May-Jun;49(3):207-14. Epub 2005 Jul 12.

PMID:
16762822
3.

Identification of de novo chromosomal markers and derivatives by spectral karyotyping.

Haddad BR, Schröck E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du Manoir S, Ried T.

Hum Genet. 1998 Nov;103(5):619-25.

PMID:
9860306
4.

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.

Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti SM, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Malathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.

Mol Med Rep. 2010 Nov-Dec;3(6):1015-22. doi: 10.3892/mmr.2010.358. Epub 2010 Sep 10.

PMID:
21472348
5.

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T.

Hum Genet. 1997 Dec;101(3):255-62.

PMID:
9439652
6.

Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).

Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.

In Vivo. 2006 Jul-Aug;20(4):473-8.

7.

The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs).

Yaron Y, Carmon E, Goldstein M, Voskoboinik N, Ochshorn Y, Gelman-Kohan Z, Orr-Urtreger A.

Prenat Diagn. 2003 Jan;23(1):74-9.

PMID:
12533818
8.
9.

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T.

J Appl Genet. 2007;48(2):167-75.

PMID:
17495351
10.

Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success.

Santos M, Mrasek K, Rigola MA, Starke H, Liehr T, Fuster C.

Fertil Steril. 2007 Oct;88(4):969.e11-7. Epub 2007 Apr 23.

PMID:
17451694
11.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4.

Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Wu PC, Chen WL, Chen LF, Pan CW, Wang W.

Taiwan J Obstet Gynecol. 2011 Jun;50(2):188-95. doi: 10.1016/j.tjog.2011.04.002.

12.

De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features.

Vundinti BR, Korgaonkar S, Ghosh K.

Gene. 2012 Apr 25;498(1):128-30. doi: 10.1016/j.gene.2012.01.066. Epub 2012 Feb 9.

PMID:
22342255
13.

Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.

Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T.

Genes Chromosomes Cancer. 1999 Dec;26(4):336-45.

PMID:
10534769
14.

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.

Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G.

Am J Med Genet A. 2004 Jun 1;127A(2):144-8.

PMID:
15108201
15.
16.

Spectral karyotyping to study chromosome abnormalities in humans and mice with polycystic kidney disease.

AbouAlaiwi WA, Rodriguez I, Nauli SM.

J Vis Exp. 2012 Feb 3;(60). pii: 3887. doi: 10.3791/3887.

17.

The application of comparative genomic hybridization as an additional tool in the chromosome analysis of acute myeloid leukemia and myelodysplastic syndromes.

Kim MH, Stewart J, Devlin C, Kim YT, Boyd E, Connor M.

Cancer Genet Cytogenet. 2001 Apr 1;126(1):26-33.

PMID:
11343775
18.
19.

Prenatal diagnosis of minute supernumerary marker chromosomes.

Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME.

Gynecol Obstet Invest. 2005;60(1):27-38. Epub 2005 Jan 24.

PMID:
15689640
20.

[Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations].

Song HL, Chen BJ, Fang Q, Xie YJ, Lin SB, Wu JZ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):393-7. doi: 10.3760/cma.j.issn.1003-9406.2012.04.004. Chinese.

PMID:
22875493

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