-
2
-
-
23244464451
-
Fetus with a de novo supernumerary marker chromosome 16 and a Dandy-Walker malformation detected on ultrasound
-
Aviv H, Wolf R, Edward Davis S, Wallerstein R: Fetus with a de novo supernumerary marker chromosome 16 and a Dandy-Walker malformation detected on ultrasound. Prenat Diagn 25: 616-618 (2005). (Pubitemid 41098108)
-
(2005)
Prenatal Diagnosis
, vol.25
, pp. 616-618
-
-
Aviv, H.1
Wolf, R.2
Edward Davis, S.3
Wallerstein, R.4
-
3
-
-
33847369009
-
Array painting using microdissected chromosomes to map chromosomal breakpoints
-
Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, et al: Array painting using microdissected chromosomes to map chromosomal breakpoints. Cytogenet Genome Res 116: 158-166 (2007). (Pubitemid 46333790)
-
(2007)
Cytogenetic and Genome Research
, vol.116
, pp. 158-166
-
-
Backx, L.1
Van Esch, H.2
Melotte, C.3
Kosyakova, N.4
Starke, H.5
-
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 82: 398-410 (2008).
-
(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
-
-
33748452843
-
Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect
-
Barber JC, Zhang S, Friend N, Collins AL, Maloney VK, et al: Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenet Genome Res 114: 351-358 (2006). (Pubitemid 44352697)
-
(2006)
Cytogenetic and Genome Research
, vol.114
, pp. 351-358
-
-
Barber, J.C.1
Zhang, S.2
Friend, N.3
Collins, A.L.4
Maloney, V.K.5
-
6
-
-
33644812402
-
Forty-two supernumerary marker chromosomes (SMCs) in 43273 prenatal samples: Chromosomal distribution, clinical findings, and UPD studies
-
Bartsch O, Loitzsch A, Kozlowski P, Mazauric ML, Hickmann G: Forty-two supernumerary marker chromosomes (SMCs) in 43273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. Eur J Hum Genet 13: 1192-1204 (2005).
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1192-1204
-
-
Bartsch, O.1
Loitzsch, A.2
Kozlowski, P.3
Mazauric, M.L.4
Hickmann, G.5
-
7
-
-
0025237117
-
Small marker chromosomes in man: Origin from pericentric heterochromatin of chromosomes 1, 9, and 16.
-
Callen DF, Ringenbergs ML, Fowler JC, Freemantle CJ, Haan E: Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J Med Genet 27: 155-159 (1990).
-
(1990)
J Med Genet
, vol.27
, pp. 155-159
-
-
Callen, D.F.1
Ringenbergs, M.L.2
Fowler, J.C.3
Freemantle, C.J.4
Haan, E.5
-
8
-
-
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 48: 769-782 (1991). (Pubitemid 21891622)
-
(1991)
American Journal of Human Genetics
, 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
-
9
-
-
0032477707
-
FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
-
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).
-
(1998)
Am J Med Genet
, vol.75
, pp. 367-381
-
-
Crolla, J.A.1
-
10
-
-
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 75: 355-366 (1998). (Pubitemid 28079652)
-
(1998)
American Journal of Medical Genetics
, vol.75
, pp. 355-366
-
-
Crolla, J.A.1
Long, F.2
Rivera, H.3
Dennis, N.R.4
-
11
-
-
28644446951
-
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories
-
Dalpr L, Giardino D, Finelli P, Corti C, Valtorta C, et al: Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. Genet Med 7: 620-625 (2005). (Pubitemid 41753013)
-
(2005)
Genetics in Medicine
, vol.7
, pp. 620-625
-
-
Dalpr, L.1
Giardino, D.2
Finelli, P.3
Corti, C.4
Valtorta, C.5
-
12
-
-
33644861103
-
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
-
Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS: Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A 140: 434-441 (2006). (Pubitemid 43376315)
-
(2006)
American Journal of Medical Genetics A
, vol.140
, pp. 434-441
-
-
Dennis, N.R.1
Veltman, M.W.2
Thompson, R.3
Craig, E.4
Bolton, P.F.5
Thomas, N.S.6
-
13
-
-
0037376804
-
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
-
Fiegler H, Carr P, Douglas EJ, Burford DC, Hunt S, et al: DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer 36: 361-374 (2003). (Pubitemid 36314519)
-
(2003)
Genes Chromosomes and Cancer
, vol.36
, pp. 361-374
-
-
Fiegler, H.1
Carr, P.2
Douglas, E.J.3
Burford, D.C.4
Hunt, S.5
-
15
-
-
0034924805
-
Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16
-
Hengstschlager M, Bettelheim D, Drahonsky R, Deutinger J, Bernaschek G: Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16. Prenat Diagn 21: 477-480 (2001). (Pubitemid 32666621)
-
(2001)
Prenatal Diagnosis
, vol.21
, pp. 477-480
-
-
Hengstschlager, M.1
Bettelheim, D.2
Drahonsky, R.3
Deutinger, J.4
Bernaschek, G.5
-
16
-
-
0027180908
-
Inverted duplication involving alpha satellite DNA resulting in a C-negative-band in the qh region of chromosome 16
-
Jalal SM, Law ME, Dewald GW: Inverted duplication involving alpha satellite DNA resulting in a C-negative-band in the qh region of chromosome 16. Am J Med Genet 46: 351-352 (1993).
-
(1993)
Am J Med Genet
, vol.46
, pp. 351-352
-
-
Jalal, S.M.1
Law, M.E.2
Dewald, G.W.3
-
17
-
-
33744551930
-
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, et al: The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey. Eur J Med Genet 49: 207-314 (2006). (Pubitemid 43817800)
-
(2006)
European Journal of Medical Genetics
, vol.49
, pp. 207-214
-
-
Karaman, B.1
Aytan, M.2
Yilmaz, K.3
Toksoy, G.4
Onal, E.P.5
-
19
-
-
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 19: 719-731 (2007).
-
(2007)
Int J Mol Med
, vol.19
, pp. 719-731
-
-
Liehr, T.1
Weise, A.2
-
20
-
-
0036551276
-
Microdissection based high resolution multicolor banding for all 24 human chromosoes
-
Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, et al: Microdissection based high resolution multicolor banding for all 24 human chromosoes. Int J Mol Med 9: 335-339 (2002).
-
(2002)
Int J Mol Med
, vol.9
, pp. 335-339
-
-
Liehr, T.1
Heller, A.2
Starke, H.3
Rubtsov, N.4
Trifonov, V.5
-
22
-
-
27644520395
-
Small supernumerary marker chromosomes - Progress towards a genotype-phenotype correlation
-
Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, et al: Small supernumerary marker chromosomes - progress towards a genotypephenotype correlation. Cytogenet Genome Res 112: 23-34 (2006). (Pubitemid 41579452)
-
(2006)
Cytogenetic and Genome Research
, vol.112
, pp. 23-34
-
-
Liehr, T.1
Mrasek, K.2
Weise, A.3
Dufke, A.4
Rodriguez, L.5
-
23
-
-
0031857633
-
Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome
-
Paoloni-Giacobino A, Morris MA, Dahoun SP: Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome. Prenat Diagn 18: 751-752 (1998). (Pubitemid 28334055)
-
(1998)
Prenatal Diagnosis
, vol.18
, pp. 751-752
-
-
Paoloni-Giacobino, A.1
Ma, M.2
Dahoun, S.P.3
-
24
-
-
33745632095
-
Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH
-
Pater J, Van der Sijs-Bos C, Prins M, Derks J, Albrechts J, Engelen J: Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH. Eur J Med Genet 49: 306-312 (2006).
-
(2006)
Eur J Med Genet
, vol.49
, pp. 306-312
-
-
Pater, J.1
Van Der Sijs-Bos, C.2
Prins, M.3
Derks, J.4
Albrechts, J.5
Engelen, J.6
-
25
-
-
60849129596
-
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man
-
Rooney DE, Czepulkowski BH (eds): (Oxford University Press, New York)
-
Rodríguez L, Liehr T, Martínez-Fernández ML, Lara A, Torres A, Martínez-Fras ML: A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man. Mol Cytogenet 1: 4 (2008).
-
(1992)
Mol Cytogenet Human Cytogenetics: A Practical Approach, 2nd Ed
, vol.1
, pp. 4
-
-
Rodríguez, L.1
Liehr, T.2
Martínez-Fernández, M.L.3
Lara, A.4
Torres, A.5
Martínez-Fras, M.L.6
-
26
-
-
0033983612
-
Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid
-
Sanz R, Anabitarte MA, Querejeta ME, Lorda-Sanchez I, Ibanez MA, et al: Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid. Prenat Diagn 20: 63-65 (2000). (Pubitemid 30071795)
-
(2000)
Prenatal Diagnosis
, vol.20
, pp. 63-65
-
-
Sanz, R.1
Ma, A.2
Querejeta, M.E.3
Lorda-Sanchez, I.4
Ma, I.5
-
27
-
-
10744232485
-
Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
-
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, et al: Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification. Hum Genet 114: 51-67 (2003). (Pubitemid 38165536)
-
(2003)
Human Genetics
, vol.114
, pp. 51-67
-
-
Starke, H.1
Nietzel, A.2
Weise, A.3
Heller, A.4
Mrasek, K.5
-
28
-
-
0038241055
-
Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter
-
Trifonov V, Seidel J, Starke H, Martina P, Beensen V, et al: Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat Diagn 23: 427-430 (2003). (Pubitemid 36596974)
-
(2003)
Prenatal Diagnosis
, vol.23
, pp. 427-430
-
-
Trifonov, V.1
Seidel, J.2
Starke, H.3
Martina, P.4
Beensen, V.5
-
29
-
-
33645385634
-
Prenatal diagnosis and molecular cytogenetic characterization of a small de novo interstitial duplication 16q11.2-q13.
-
Trimborn M, Wegner RD, Tnnies H, Sarioglu N, Albig M, Neitzel H: Prenatal diagnosis and molecular cytogenetic characterization of a small de novo interstitial duplication 16q11.2-q13. Prenat Diagn 26: 273-276 (2006).
-
(2006)
Prenat Diagn
, vol.26
, pp. 273-276
-
-
Trimborn, M.1
Wegner, R.D.2
Tnnies, H.3
Sarioglu, N.4
Albig, M.5
Neitzel, H.6
-
30
-
-
20044362567
-
Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
-
Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, et al: Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 53: 413-422 (2005). (Pubitemid 40344086)
-
(2005)
Journal of Histochemistry and Cytochemistry
, vol.53
, pp. 413-422
-
-
Vermeesch, J.R.1
Melotte, C.2
Froyen, G.3
Van Vooren, S.4
Dutta, B.5
|