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Items: 1 to 20 of 1073

1.

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
2.
3.

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
4.

Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.

Liehr T, Starke H, Senger G, Melotte C, Weise A, Vermeesch JR.

Am J Med Genet A. 2006 Jan 1;140(1):46-51. Review.

PMID:
16333826
5.
6.

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
7.

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.

8.

Small supernumerary marker chromosomes 1 with a normal phenotype.

Liehr T, Wegner RD, Stumm M, Martin T, Gillessen-Kaesbach G, Kosyakova N, Ewers E, Hamid AB, von Eggeling F, Hentschel J, Ziegler M, Weise A.

J Chin Med Assoc. 2010 Apr;73(4):205-7. doi: 10.1016/S1726-4901(10)70042-3.

9.

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.

10.

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.

11.

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.

Kitsiou-Tzeli S, Manolakos E, Lagou M, Kontodiou M, Kosyakova N, Ewers E, Weise A, Garas A, Orru S, Liehr T, Metaxotou A.

Mol Cytogenet. 2009 Jan 7;2:1. doi: 10.1186/1755-8166-2-1.

12.
13.

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
14.

Characterization of sSMC by FISH and molecular techniques.

Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, LeLorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.

Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 2011 Mar 3.

PMID:
21316495
15.

A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers.

Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, MacDermont K, Sebire N, Liehr T.

Prenat Diagn. 2007 Aug;27(8):783-5.

PMID:
17546703
16.

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
17.

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.

Liehr T, Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A.

Cytogenet Genome Res. 2009;124(1):102-5. doi: 10.1159/000200094. Epub 2009 Apr 15.

PMID:
19372675
18.

Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics.

Liehr T.

Methods Mol Biol. 2008;444:27-38. doi: 10.1007/978-1-59745-066-9_2.

PMID:
18425469
19.

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
20.

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.

Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B.

Eur J Med Genet. 2007 Mar-Apr;50(2):94-102. Epub 2006 Nov 23.

PMID:
17236832

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