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1
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4344625842
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Small supernumerary marker chromosomes (sSMC) in humans
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Comprehensive overview on all aspects of small supernumerary marker chromosomes (sSMCs)
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Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet. Genome Res. 107, 55-67 (2004). •• Comprehensive overview on all aspects of small supernumerary marker chromosomes (sSMCs).
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(2004)
Cytogenet. Genome Res.
, vol.107
, pp. 55-67
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Liehr, T.1
Claussen, U.2
Starke, H.3
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2
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33747889480
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Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line
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Highlights special mode of inheritance in sSMCs
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Liehr T. Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line. Genet. Med. 8, 459-462 (2006). • Highlights special mode of inheritance in sSMCs.
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(2006)
Genet. Med.
, vol.8
, pp. 459-462
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Liehr, T.1
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3
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34248544965
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Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
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Reliable source on sSMC frequency in different clinical entities
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Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int. J. Mol. Med. 19, 719-731 (2007). • Reliable source on sSMC frequency in different clinical entities.
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Int. J. Mol. Med.
, vol.19
, pp. 719-731
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Liehr, T.1
Weise, A.2
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4
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0025941775
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De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
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Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49, 995-1013 (1991).
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Am. J. Hum. Genet.
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Warburton, D.1
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5
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0032477707
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FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
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Crolla JA. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am. J. Med. Genet. 75, 367-381 (1998).
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Am. J. Med. Genet.
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Crolla, J.A.1
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6
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33747081933
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Redefining the risks of prenatally ascertained supernumerary marker chromosomes: A collaborative study
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Graf MD, Christ L, Mascarello JT et al. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J. Med. Genet. 43, 660-664 (2006).
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J. Med. Genet.
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Graf, M.D.1
Christ, L.2
Mascarello, J.T.3
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7
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27644520395
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Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation
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Liehr T, Mrasek K, Weise A et al. Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation. Cytogenet. Genome Res. 112, 23-34 (2006).
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Cytogenet. Genome Res.
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, pp. 23-34
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Liehr, T.1
Mrasek, K.2
Weise, A.3
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8
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70349588226
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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
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Thoughts in the biology of sSMCs
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Liehr T, Mrasek K, Kosyakova N et al. Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them. Mol. Cytogenet. 1, 12 (2008). • Thoughts in the biology of sSMCs.
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Mol. Cytogenet.
, vol.1
, pp. 12
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Liehr, T.1
Mrasek, K.2
Kosyakova, N.3
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9
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0029004732
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A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples
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Bröndum-Nielsen K, Mikkelsen M. A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples. Prenat. Diagn. 15, 615-619 (1995).
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Prenat. Diagn.
, vol.15
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Bröndum-Nielsen, K.1
Mikkelsen, M.2
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10
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0035869201
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Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
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Anderlid BM, Sahlen S, Schoumans J et al. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am. J. Med. Genet. 99, 223-233 (2001).
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Am. J. Med. Genet.
, vol.99
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Anderlid, B.M.1
Sahlen, S.2
Schoumans, J.3
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11
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40749147287
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Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues
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Special aspects on the formation of sSMCs are highlighted
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Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am. J. Hum. Genet. 82, 398-410 (2008). • Special aspects on the formation of sSMCs are highlighted.
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(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 398-410
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Baldwin, E.L.1
May, L.F.2
Justice, A.N.3
Martin, C.L.4
Ledbetter, D.H.5
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12
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0003676646
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International Standing Committee on Human Cytogenetic Nomenclature. Shaffer LG, Tommerup N (Eds). S. Karger, Basel, Switzerland
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International Standing Committee on Human Cytogenetic Nomenclature. ISCN 2005: An International System for Human Cytogenetics Nomenclature. Shaffer LG, Tommerup N (Eds). S. Karger, Basel, Switzerland (2005).
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(2005)
ISCN 2005: An International System for Human Cytogenetics Nomenclature
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13
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66449090472
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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
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Reviews rare cases of complex sSMCs
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Trifonov V, Fluri S, Binkert F et al. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Mol. Cytogenet. 1, 6 (2008). • Reviews rare cases of complex sSMCs.
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(2008)
Mol. Cytogenet.
, vol.1
, pp. 6
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Trifonov, V.1
Fluri, S.2
Binkert, F.3
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14
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34848909289
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Neocentric small supernumerary marker chromosomes (sSMC) - Three more cases and review of the literature
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Reviews rare cases of neocentric sSMCs
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Liehr T, Utine GE, Trautmann U et al. Neocentric small supernumerary marker chromosomes (sSMC) - three more cases and review of the literature. Cytogenet. Genome Res. 118, 31-37 (2007). • Reviews rare cases of neocentric sSMCs.
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Cytogenet. Genome Res.
, vol.118
, pp. 31-37
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Liehr, T.1
Utine, G.E.2
Trautmann, U.3
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15
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44149093809
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Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
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Reviews Emanuel syndrome
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Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev. Disabil. Res. Rev. 14, 11-18 (2008). • Reviews Emanuel syndrome.
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Dev. Disabil. Res. Rev.
, vol.14
, pp. 11-18
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Emanuel, B.S.1
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16
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38349186915
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Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 New cases and a review of the literature
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Reviews sSMCs in Turner karyotypes
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Liehr T, Mrasek K, Hinreiner S et al. Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Sex. Dev. 1, 353-362 (2007). • Reviews sSMCs in Turner karyotypes.
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(2007)
Sex. Dev.
, vol.1
, pp. 353-362
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Liehr, T.1
Mrasek, K.2
Hinreiner, S.3
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17
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34848860187
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Identification of a 'cryptic mosaicism' involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success
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Describes sSMC and cryptic mosaicism
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Santos M, Mrasek K, Rigola MA, Starke H, Liehr T, Fuster C. Identification of a 'cryptic mosaicism' involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success. Fertil. Steril. 88, 969 (2007). • Describes sSMC and cryptic mosaicism.
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(2007)
Fertil. Steril.
, vol.88
, pp. 969
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Santos, M.1
Mrasek, K.2
Rigola, M.A.3
Starke, H.4
Liehr, T.5
Fuster, C.6
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18
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34547768278
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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
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Most comprehensive study of sSMC mosaicism in different tissues
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Fickelscher I, Starke H, Schulze E et al. 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. Prenat. Diagn. 27, 783-785 (2007). • Most comprehensive study of sSMC mosaicism in different tissues.
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(2007)
Prenat. Diagn.
, vol.27
, pp. 783-785
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Fickelscher, I.1
Starke, H.2
Schulze, E.3
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19
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1842638397
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Characterization of small supernumerary marker chromosomes (sSMC) in human
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Liehr T, Mrasek K, Weise A et al. Characterization of small supernumerary marker chromosomes (sSMC) in human. Current Genomics 5, 279-286 (2004).
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Current Genomics
, vol.5
, pp. 279-286
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Liehr, T.1
Mrasek, K.2
Weise, A.3
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20
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0029912473
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Karyotyping human chromosomes by combinatorial multi-fluor FISH
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Speicher MR, Gwyn Ballard S, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat. Genet. 12, 368-375 (1996).
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Nat. Genet.
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Speicher, M.R.1
Gwyn Ballard, S.2
Ward, D.C.3
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21
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0038214755
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Multicolor spectral karyotyping of human chromosomes
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Schröck E, du Manoir S, Veldman T et al. Multicolor spectral karyotyping of human chromosomes. Science 273, 494-497 (1996).
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Science
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Schröck, E.1
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Veldman, T.3
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22
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0035019766
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Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia
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Starke H, Raida M, Trifonov V et al. Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia- negative chronic myelogenous leukaemia. Br. J. Haematol. 113, 435-438 (2001).
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Br. J. Haematol.
, vol.113
, pp. 435-438
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Starke, H.1
Raida, M.2
Trifonov, V.3
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23
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66449089327
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Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
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Tsuchiya KD, Opheim KE, Hannibal MC et al. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol. Cytogenet. 1, 7 (2008).
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Mol. Cytogenet.
, vol.1
, pp. 7
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Tsuchiya, K.D.1
Opheim, K.E.2
Hannibal, M.C.3
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24
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33847369009
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Array painting using microdissected chromosomes to map chromosomal breakpoints
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Array painting study of sSMCs combined with microdissection
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Backx L, Van Esch H, Melotte C et al. Array painting using microdissected chromosomes to map chromosomal breakpoints. Cytogenet. Genome Res. 116, 158-166 (2007). • Array painting study of sSMCs combined with microdissection.
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Cytogenet. Genome Res.
, vol.116
, pp. 158-166
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Backx, L.1
Van Esch, H.2
Melotte, C.3
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25
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34248379670
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Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients
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Array painting study of sSMCs combined with microdissection
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Pietrzak J, Mrasek K, Obersztyn E et al. Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J. Appl. Genet. 48, 167-175 (2007). • Array painting study of sSMCs combined with microdissection.
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J. Appl. Genet.
, vol.48
, pp. 167-175
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Pietrzak, J.1
Mrasek, K.2
Obersztyn, E.3
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26
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17744374774
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A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH)
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Describes the one step FISH approach for sSMC identification
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Nietzel A, Rocchi M, Starke H et al. A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum. Genet. 108, 199-204 (2001). •• Describes the one step FISH approach for sSMC identification.
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Hum. Genet.
, vol.108
, pp. 199-204
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Nietzel, A.1
Rocchi, M.2
Starke, H.3
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27
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0038241055
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Enlarged chromosome 13p-arm hiding a cryptic partial trisomy 6p22.2-pter
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Trifonov V, Seidel J, Starke H et al. Enlarged chromosome 13p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat. Diagn. 23, 427-430 (2003).
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Prenat. Diagn.
, vol.23
, pp. 427-430
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Trifonov, V.1
Seidel, J.2
Starke, H.3
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28
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33748448063
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Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding
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Liehr T, Starke H, Heller A et al. Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet. Genome Res. 114, 240-244 (2006).
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Cytogenet. Genome Res.
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Liehr, T.1
Starke, H.2
Heller, A.3
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29
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10744232485
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Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
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Starke H, Nietzel A, Weise A et al. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. 114, 51-67 (2003).
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Hum. Genet.
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, pp. 51-67
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Starke, H.1
Nietzel, A.2
Weise, A.3
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30
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0036071365
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Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12) (:p11->q11:)/46,XX karyotype
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First report on a uniparental disomy 12, detected due to sSMC presence
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von Eggeling F, Hoppe C, Bartz U et al. Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12) (:p11->q11:)/46,XX karyotype. J. Med. Genet. 39, 519-521 (2002). • First report on a uniparental disomy 12, detected due to sSMC presence.
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J. Med. Genet.
, vol.39
, pp. 519-521
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Von Eggeling, F.1
Hoppe, C.2
Bartz, U.3
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31
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18844468257
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Partial hexasomy 15pter->15q13 including SNRPN and D15S10: First molecular cytogenetically proven case report
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Nietzel A, Albrecht B, Starke H et al. Partial hexasomy 15pter->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report. J. Med. Genet. 40, 28 (2003).
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J. Med. Genet.
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, pp. 28
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Nietzel, A.1
Albrecht, B.2
Starke, H.3
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32
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2942643988
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A strategy for the characterization of small supernumerary marker chromosomes (SMC)
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Liehr T, Nietzel A, Weise A et al. A strategy for the characterization of small supernumerary marker chromosomes (SMC). Balkan J. Med. Genet. 6, 69-72 (2003).
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Balkan J. Med. Genet.
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Liehr, T.1
Nietzel, A.2
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33
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0017131740
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An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes
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Bloom SE, Goodpasture C. An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum. Genet. 34, 199-206 (1975).
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Bloom, S.E.1
Goodpasture, C.2
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70249088646
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Essential database on characterization and clinical outcome of all reported sSMCs
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Liehr T. Small supernumerary marker chromosomes database www.med.uni-jena.de/fish/sSMC/00START.htm •• Essential database on characterization and clinical outcome of all reported sSMCs.
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Small Supernumerary Marker Chromosomes Database
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Liehr, T.1
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