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Results: 1 to 20 of 149

1.

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?

Faucz FR, Souza J, Bonalumi Filho A, Sotomaior VS, Frantz E, Antoniuk S, Rosenfeld JA, Raskin S.

Am J Med Genet A. 2011 Sep;155A(9):2308-10. doi: 10.1002/ajmg.a.34196. Epub 2011 Aug 3.

PMID:
21815264
[PubMed - indexed for MEDLINE]
2.

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM.

Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 31.

PMID:
19729913
[PubMed - indexed for MEDLINE]
3.

Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient.

Gulten T, Gorukmez O, Gorukmez O, Karkucak M, Ture M, Yakut T.

West Indian Med J. 2012 Dec;61(9):924-7.

PMID:
24020236
[PubMed - indexed for MEDLINE]
4.

Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis.

Chen CP, Chang SD, Su YN, Chen M, Chern SR, Su JW, Chen YT, Chen WL, Pan CW, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2012 Sep;51(3):405-10. doi: 10.1016/j.tjog.2012.07.016.

PMID:
23040926
[PubMed - indexed for MEDLINE]
5.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

Reddy KS, Aradhya S, Meck J, Tiller G, Abboy S, Bass H.

Genet Med. 2013 Jan;15(1):3-13. doi: 10.1038/gim.2012.78. Epub 2012 Aug 30. Review.

PMID:
22935720
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
21791306
[PubMed - indexed for MEDLINE]
7.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2.

Chen CP, Chen M, Chern SR, Wu PS, Chang SP, Lee DJ, Chen YT, Chen LF, Su JW, Hwa-Ruey Hsieh A, Hwa-Jiun Hsieh A, Wang W.

Taiwan J Obstet Gynecol. 2012 Sep;51(3):411-7. doi: 10.1016/j.tjog.2012.07.017.

PMID:
23040927
[PubMed - indexed for MEDLINE]
8.

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F.

Am J Med Genet A. 2007 May 15;143A(10):1108-13.

PMID:
17431916
[PubMed - indexed for MEDLINE]
9.

Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation.

Mrasek K, Starke H, Liehr T.

J Histochem Cytochem. 2005 Mar;53(3):367-70.

PMID:
15750022
[PubMed - indexed for MEDLINE]
10.

Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.

Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.

Cytogenet Genome Res. 2013;139(3):158-63. doi: 10.1159/000346026. Epub 2012 Dec 29. Review.

PMID:
23295254
[PubMed - indexed for MEDLINE]
11.

Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.

Melo JB, Backx L, Vermeesch JR, Santos HG, Sousa AC, Kosyakova N, Weise A, von Eggeling F, Liehr T, Carreira IM.

J Appl Genet. 2011 May;52(2):193-200. doi: 10.1007/s13353-011-0035-3. Epub 2011 Mar 25. Review.

PMID:
21437654
[PubMed - indexed for MEDLINE]
12.

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]
13.

Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype.

Sung PL, Chang SP, Wen KC, Chang CM, Yang MJ, Chen LC, Chao KC, Huang CY, Li YC, Lin CC.

Am J Med Genet A. 2009 Dec;149A(12):2768-74. doi: 10.1002/ajmg.a.32878.

PMID:
19921638
[PubMed - indexed for MEDLINE]
14.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.

Chen CP, Ko TM, Chen YY, Su JW, Wang W.

Gene. 2013 Sep 15;527(1):384-8. doi: 10.1016/j.gene.2013.05.061. Epub 2013 Jun 6.

PMID:
23747353
[PubMed - indexed for MEDLINE]
15.

Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.

Lin CC, Hsieh YY, Wang CH, Li YC, Hsieh LJ, Lee CC, Tsai CH, Tsai FJ.

Prenat Diagn. 2006 Oct;26(10):898-902.

PMID:
16915592
[PubMed - indexed for MEDLINE]
16.

Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies.

Fei X, Qi M, Zhao Y, Li-Ling J.

Am J Med Genet A. 2011 Dec;155A(12):3116-21. doi: 10.1002/ajmg.a.34346. Epub 2011 Nov 8.

PMID:
22069249
[PubMed - indexed for MEDLINE]
17.

Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH.

Wood E, Dowey S, Saul D, Cain C, Rossiter J, Blakemore K, Stetten G.

Am J Med Genet A. 2008 Mar 15;146A(6):764-9. doi: 10.1002/ajmg.a.32184.

PMID:
18241063
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
16900777
[PubMed - indexed for MEDLINE]
Free Article
20.

Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome.

Vundinti BR, Korgaonkar S, Ghosh K.

Indian J Pediatr. 2009 Dec;76(12):1265-7. doi: 10.1007/s12098-009-0243-6. Epub 2009 Dec 11. Erratum in: Indian J Pediatr. 2010 Jan;77(1):35.

PMID:
20012787
[PubMed - indexed for MEDLINE]

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