-
1
-
-
34248544965
-
Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
-
Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007;19:719-731.
-
(2007)
Int J Mol Med
, vol.19
, pp. 719-731
-
-
Liehr, T.1
Weise, A.2
-
2
-
-
33747081933
-
Redefining the risks of prenatally ascertained supernumerary marker chromosomes: A collaborative study
-
Graf MD, Christ L, Mascarello JT, et al. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J Med Genet 2006;43:660-664.
-
(2006)
J Med Genet
, vol.43
, pp. 660-664
-
-
Graf, M.D.1
Christ, L.2
Mascarello, J.T.3
-
3
-
-
0034011451
-
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
-
Stankiewicz P, Bocian E, Jakubów-Durska K, et al. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. J Med Genet 2000;37:114-120.
-
(2000)
J Med Genet
, vol.37
, pp. 114-120
-
-
Stankiewicz, P.1
Bocian, E.2
Jakubów-Durska, K.3
-
4
-
-
40749147287
-
Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues
-
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 2008;82:398-410.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 398-410
-
-
Baldwin, E.L.1
May, L.F.2
Justice, A.N.3
Martin, C.L.4
Ledbetter, D.H.5
-
5
-
-
0025007098
-
The isochromosome 18p syndrome: Confirmation of cytogenetic diagnosis in nine cases by in situ hybridization
-
Callen DF, Freemantle CJ, Ringenbergs ML, et al. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet 1990;47:493-498.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 493-498
-
-
Callen, D.F.1
Freemantle, C.J.2
Ringenbergs, M.L.3
-
6
-
-
0028821373
-
Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
-
Crolla JA, Harvey JF, Sitch FL, Dennis NR. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995;95:161-170.
-
(1995)
Hum Genet
, vol.95
, pp. 161-170
-
-
Crolla, J.A.1
Harvey, J.F.2
Sitch, F.L.3
Dennis, N.R.4
-
7
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup 15) chromosomes
-
Huang B, Crolla JA, Christian SL, et al. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 1997;99:11-17.
-
(1997)
Hum Genet
, vol.99
, pp. 11-17
-
-
Huang, B.1
Crolla, J.A.2
Christian, S.L.3
-
8
-
-
0036665170
-
Supernumerary marker chromosomes derived from chromosome 15: Analysis of 32 new cases
-
Eggermann K, Mau UA, Bujdosó G, et al. Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin Genet 2002;62:89-93.
-
(2002)
Clin Genet
, vol.62
, pp. 89-93
-
-
Eggermann, K.1
Mau, U.A.2
Bujdosó, G.3
-
9
-
-
0029161489
-
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region
-
Mears AJ, el-Shanti H, Murray JC, McDermid HE, Patil SR. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet 1995;57: 667-673.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 667-673
-
-
Mears, A.J.1
El-Shanti, H.2
Murray, J.C.3
McDermid, H.E.4
Patil, S.R.5
-
10
-
-
66449090472
-
Complex rearranged small supernumerary marker chromosomes (sSMC three new cases; Evidence for an underestimated entity?
-
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 2008;15:1-6.
-
(2008)
Mol Cytogenet
, vol.15
, pp. 1-6
-
-
Trifonov, V.1
Fluri, S.2
Binkert, F.3
-
11
-
-
84858866041
-
Unexpected results in the constitution of small supernumerary marker chromosomes
-
Vetro A, Manolakos E, Petersen MB, et al. Unexpected results in the constitution of small supernumerary marker chromosomes. Eur J Med Genet 2012;55:185-190.
-
(2012)
Eur J Med Genet
, vol.55
, pp. 185-190
-
-
Vetro, A.1
Manolakos, E.2
Petersen, M.B.3
-
12
-
-
84856483342
-
Characterizing small supernumerary marker chromosomes with combination of multiple techniques
-
Yu S, Fiedler SD, Brawner SJ, Joyce JM, Zhou XG, Liu HY. Characterizing small supernumerary marker chromosomes with combination of multiple techniques. Cytogenet Genome Res 2012;136:6-14.
-
(2012)
Cytogenet Genome Res
, vol.136
, pp. 6-14
-
-
Yu, S.1
Fiedler, S.D.2
Brawner, S.J.3
Joyce, J.M.4
Zhou, X.G.5
Liu, H.Y.6
-
13
-
-
34547468580
-
-
Liehr T. sSMC homepage. 2005. http://www.med.uni-jena.de/fish/sSMC/ 00START.htm.
-
(2005)
SSMC Homepage
-
-
Liehr, T.1
-
14
-
-
79955822180
-
Chromosome 5 derived small supernumerary marker: Towards a genotype/phenotype correlation of proximal chromosome 5 imbalances
-
Melo JB, Backx L, Vermeesch JR, et al. Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances. J Appl Genet 2011;52: 193-200.
-
(2011)
J Appl Genet
, vol.52
, pp. 193-200
-
-
Melo, J.B.1
Backx, L.2
Vermeesch, J.R.3
-
16
-
-
84872060211
-
-
OMIM (Online Mendelian inheritance in man Johns Hopkins University Center for Medical Genetics: Baltimore
-
OMIM (Online Mendelian inheritance in man). Johns Hopkins University, Center for Medical Genetics: Baltimore, 1996. http://omim.org/entry/192500.
-
(1996)
-
-
-
17
-
-
84872081652
-
-
GeneReviews
-
GeneReviews. http://www.genetests.org.
-
-
-
-
18
-
-
84872060212
-
-
http://www.fsm.it/cardmoc/ Human Genome Mutation Database
-
Inherited arrhythimas database. http://www.fsm.it/cardmoc/,Human Genome Mutation Database; https://portal.biobase international.com/hgmd/pro/search- gene.php?.
-
Inherited Arrhythimas Database
-
-
-
19
-
-
0029012349
-
Interstitial duplication 19p
-
Stratton RF, DuPont BR, Olsen AS, Fertitta A, Hoyer M, Moore CM. Interstitial duplication 19p. Am J Me.d Genet 1995;57:562-564.
-
(1995)
Am J Me.d Genet
, vol.57
, pp. 562-564
-
-
Stratton, R.F.1
Dupont, B.R.2
Olsen, A.S.3
Fertitta, A.4
Hoyer, M.5
Moore, C.M.6
-
20
-
-
23844478879
-
Pure trisomy 19p syndrome in an infant with an extra ring chromosome
-
Novelli A, Ceccarini C, Bernardini L, et al. Pure trisomy 19p syndrome in an infant with an extra ring chromosome. Cytogenet Genome Res 2005;111:182-185.
-
(2005)
Cytogenet Genome Res
, vol.111
, pp. 182-185
-
-
Novelli, A.1
Ceccarini, C.2
Bernardini, L.3
-
21
-
-
84872091003
-
-
Liehr T. SMC homepage. 2006. http://www.med.unijena.de/fish/ssmc/00start. htm.
-
(2006)
SMC Homepage
-
-
Liehr, T.1
-
22
-
-
50849098188
-
Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p
-
Vranekovic J, Brajenovic-Milic B, Modrusan-Mozetic Z, Babic I, Kapovic M. Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p. Cytogenet Genome Res 2008;121:298-301.
-
(2008)
Cytogenet Genome Res
, vol.121
, pp. 298-301
-
-
Vranekovic, J.1
Brajenovic-Milic, B.2
Modrusan-Mozetic, Z.3
Babic, I.4
Kapovic, M.5
-
23
-
-
83355172813
-
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression
-
Lehman AM, du Souich C, Chai D, et al. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clin Genet 2012;81:56-63.
-
(2012)
Clin Genet
, vol.81
, pp. 56-63
-
-
Lehman, A.M.1
Du Souich, C.2
Chai, D.3
-
24
-
-
0027058482
-
Interstitial deletion and ring chromosome derived from 19q Proximal 19q trisomy phenotype
-
Quack B, Van Roy N, Verschraegen-Spae MR, Klein F. Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype. Ann Genet 1992;35:241-244.
-
(1992)
Ann Genet
, vol.35
, pp. 241-244
-
-
Quack, B.1
Van Roy, N.2
Verschraegen-Spae, M.R.3
Klein, F.4
-
25
-
-
33847659545
-
Proximal 19q trisomy: A new syndrome of morbid obesity and mental retardation
-
Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z. Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation. Horm Res 2007;67:105-110.
-
(2007)
Horm Res
, vol.67
, pp. 105-110
-
-
Zung, A.1
Rienstein, S.2
Rosensaft, J.3
Aviram-Goldring, A.4
Zadik, Z.5
-
26
-
-
77249127382
-
Dup(19)(q12q13.2): Array-based genotype-phenotype correlation of a new possibly obesity-related syndrome
-
Davidsson J, Jahnke K, Forsgren M, et al. dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome. Obesity 2010;18:580-587.
-
(2010)
Obesity
, vol.18
, pp. 580-587
-
-
Davidsson, J.1
Jahnke, K.2
Forsgren, M.3
-
27
-
-
77957587067
-
A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism
-
Hall CE, Cunningham JJ, Hislop RG, Berg JN. A boy with supernumerary mosaic trisomy 19q, involving 19q13.11-19q13.2, with macrocephaly, obesity and mild facial dysmorphism. Clin Dysmorphol 2010;19: 218-221.
-
(2010)
Clin Dysmorphol
, vol.19
, pp. 218-221
-
-
Hall, C.E.1
Cunningham, J.J.2
Hislop, R.G.3
Berg, J.N.4
-
28
-
-
0034221278
-
Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20) q13.3;p12.2)
-
Oda T, Elkahloun AG, Meltzer PS, et al. Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2). Hum Mutat 2000;16:92.
-
(2000)
Hum Mutat
, vol.16
, pp. 92
-
-
Oda, T.1
Elkahloun, A.G.2
Meltzer, P.S.3
-
30
-
-
27144434090
-
Report of a patient with a trisomy of chromosome region 20q11.2-20q12 and characterization with FISH
-
Wanderley HY, Schrander-Stumpel CT, Visser MO, Van Maanen-Op Het Roodt EA, Loneus WH, Engelen JJ. Report of a patient with a trisomy of chromosome region 20q11.2-20q12 and characterization with FISH. Genet Couns 2005;16:277-282.
-
(2005)
Genet Couns
, vol.16
, pp. 277-282
-
-
Wanderley, H.Y.1
Schrander-Stumpel, C.T.2
Visser, M.O.3
Van Maanen-Op Het Roodt, E.A.4
Loneus, W.H.5
Engelen, J.J.6
-
31
-
-
75449092420
-
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
-
Guediche N, Brisset S, Benichou JJ, et al. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20. Am J Med Genet A 2010;152:464-471.
-
(2010)
Am J Med Genet A
, vol.152
, pp. 464-471
-
-
Guediche, N.1
Brisset, S.2
Benichou, J.J.3
-
32
-
-
0025911027
-
Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics
-
Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet 1991;48:769-782.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 769-782
-
-
Callen, D.F.1
Eyre, H.J.2
Ringenbergs, M.L.3
Freemantle, C.J.4
Woodroffe, P.5
Haan, E.A.6
-
33
-
-
0027485183
-
Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH
-
Blennow E, Annerén G, Bui TH, Berggren E, Asadi E, Nordenskjöld M. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 1993;53: 433-442.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 433-442
-
-
Blennow, E.1
Annerén, G.2
Bui, T.H.3
Berggren, E.4
Asadi, E.5
Nordenskjöld, M.6
-
34
-
-
0028934283
-
An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line
-
Batista DA, Escallon C, Blakemore KJ, Stetten G. An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line. Prenat Diagn 1995;15:123-127.
-
(1995)
Prenat Diagn
, vol.15
, pp. 123-127
-
-
Batista, D.A.1
Escallon, C.2
Blakemore, K.J.3
Stetten, G.4
-
35
-
-
0029962240
-
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization
-
van Langen IM, Otter MA, Aronson DC, et al. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. Clin Genet 1996;49:49-53.
-
(1996)
Clin Genet
, vol.49
, pp. 49-53
-
-
Van Langen, I.M.1
Ma, O.2
Aronson, D.C.3
-
36
-
-
0030951849
-
Identification of supernumerary der 20) chromosomes by FISH in three patients
-
Viersbach R, Engels H, Schwanitz G. Identification of supernumerary der(20) chromosomes by FISH in three patients. Am J Med Genet 1997;70:278-283.
-
(1997)
Am J Med Genet
, vol.70
, pp. 278-283
-
-
Viersbach, R.1
Engels, H.2
Schwanitz, G.3
-
37
-
-
0032477780
-
FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22 I. Results of 26 new cases
-
Crolla JA, Long F, Rivera H, Dennis NR. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. Am J Med Genet 1998;75:355-366.
-
(1998)
Am J Med Genet
, vol.75
, pp. 355-366
-
-
Crolla, J.A.1
Long, F.2
Rivera, H.3
Dennis, N.R.4
-
38
-
-
0034020593
-
Clinical findings in a patient mosaic for a supernumerary ring chromosome 20
-
Austin-Ward ED, Castillo S, Dragnic Y, Sanz P, Salazar S, Knoll JH. Clinical findings in a patient mosaic for a supernumerary ring chromosome 20. Am J Med Genet 2000;91:171-174.
-
(2000)
Am J Med Genet
, vol.91
, pp. 171-174
-
-
Austin-Ward, E.D.1
Castillo, S.2
Dragnic, Y.3
Sanz, P.4
Salazar, S.5
Knoll, J.H.6
-
39
-
-
14044265666
-
Supernumerary ring chromosome 20 in a mother and her child
-
Pinto MR, Fonseca e Silva ML, Aguiar J, Quelhas I, Lima MR. Supernumerary ring chromosome 20 in a mother and her child. Am J Med Genet A 2005;133A:193-196.
-
(2005)
Am J Med Genet A
, vol.133 A
, pp. 193-196
-
-
Pinto, M.R.1
Fonsecae Silva, M.L.2
Aguiar, J.3
Quelhas, I.4
Lima, M.R.5
-
40
-
-
63449109267
-
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male
-
Kitsiou-Tzeli S, Manolakos E, Lagou M, et al. Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. Mol Cytogenet 2009;2:1.
-
(2009)
Mol Cytogenet
, vol.2
, pp. 1
-
-
Kitsiou-Tzeli, S.1
Manolakos, E.2
Lagou, M.3
-
41
-
-
70349644853
-
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
-
Callier P, Faivre L, Pigeonnat S, et al. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. Prenat Diagn 2009;29:1002-1005.
-
(2009)
Prenat Diagn
, vol.29
, pp. 1002-1005
-
-
Callier, P.1
Faivre, L.2
Pigeonnat, S.3
-
42
-
-
61649106714
-
SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation
-
Kamath BM, Thiel BD, Gai X, et al. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat 2009;30:371-378.
-
(2009)
Hum Mutat
, vol.30
, pp. 371-378
-
-
Kamath, B.M.1
Thiel, B.D.2
Gai, X.3
-
43
-
-
0033960751
-
Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
-
Batanian JR, Huang Y, Gottesman GS, Grange DK, Blasingame AV. Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting. Am J Med Genet 2000;90:276-282.
-
(2000)
Am J Med Genet
, vol.90
, pp. 276-282
-
-
Batanian, J.R.1
Huang, Y.2
Gottesman, G.S.3
Grange, D.K.4
Blasingame, A.V.5
-
44
-
-
0035869201
-
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
-
Anderlid BM, Sahlén S, Schoumans J, et al. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 2001;99:223-233.
-
(2001)
Am J Med Genet
, vol.99
, pp. 223-233
-
-
Anderlid, B.M.1
Sahlén, S.2
Schoumans, J.3
-
45
-
-
33748444187
-
Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines
-
Brecevic L, Michel S, Starke H, et al. Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines. Cytogenet Genome Res 2006;114:319-324.
-
(2006)
Cytogenet Genome Res
, vol.114
, pp. 319-324
-
-
Brecevic, L.1
Michel, S.2
Starke, H.3
-
46
-
-
80054020861
-
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
-
Liehr T, Ewers E, Hamid AB, et al. Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem 2011;59:842-848.
-
(2011)
J Histochem Cytochem
, vol.59
, pp. 842-848
-
-
Liehr, T.1
Ewers, E.2
Hamid, A.B.3
-
47
-
-
37249059981
-
Computational and experimental identification of novel human imprinted genes
-
Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ. Computational and experimental identification of novel human imprinted genes. Genome Res 2007;17:1723-1730.
-
(2007)
Genome Res
, vol.17
, pp. 1723-1730
-
-
Luedi, P.P.1
Dietrich, F.S.2
Weidman, J.R.3
Bosko, J.M.4
Jirtle, R.L.5
Hartemink, A.J.6
-
48
-
-
55849090330
-
Supernumerary marker chromosomes management in prenatal diagnosis
-
Gruchy N, Lebrun M, Herlicoviez M, et al. Supernumerary marker chromosomes management in prenatal diagnosis. Am J Med Genet A 2008;146A:2770-2776.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2770-2776
-
-
Gruchy, N.1
Lebrun, M.2
Herlicoviez, M.3
-
49
-
-
66449089327
-
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
-
Tsuchiya KD, Opheim KE, Hannibal MC, et al. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet 2008;1:71-11.
-
(2008)
Mol Cytogenet
, vol.1
, pp. 71-11
-
-
Tsuchiya, K.D.1
Opheim, K.E.2
Hannibal, M.C.3
|