-
1
-
-
0029875791
-
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay
-
Aalfs CM, Jacobs ME, Nieste-Otter MA, Hennekam RC, Hoovers JM. 1996. Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay. Clin Genet 49(1):42-45.
-
(1996)
Clin Genet
, vol.49
, Issue.1
, pp. 42-45
-
-
Aalfs, C.M.1
Jacobs, M.E.2
Nieste-Otter, M.A.3
Hennekam, R.C.4
Hoovers, J.M.5
-
2
-
-
0035869201
-
Detailed characterization of 12 super-numerary ring chromosomes using micro-FISH and search for uniparental disomy
-
Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. 2001. Detailed characterization of 12 super-numerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99(3):223-233.
-
(2001)
Am J Med Genet
, vol.99
, Issue.3
, pp. 223-233
-
-
Anderlid, B.M.1
Sahlen, S.2
Schoumans, J.3
Holmberg, E.4
Ahsgren, I.5
Mortier, G.6
Speleman, F.7
Blennow, E.8
-
3
-
-
0031012076
-
FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients
-
Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L. 1997. FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients. Am J Med Genet 68(1):99-104.
-
(1997)
Am J Med Genet
, vol.68
, Issue.1
, pp. 99-104
-
-
Bettio, D.1
Rizzi, N.2
Giardino, D.3
Gurrieri, F.4
Silvestri, G.5
Grugni, G.6
Larizza, L.7
-
4
-
-
0029870467
-
Small extra ring chromosome derived from chromosome 10p: Clinical report and characterisation by FISH
-
Blennow E, Tillberg E. 1996. Small extra ring chromosome derived from chromosome 10p: Clinical report and characterisation by FISH. J Med Genet 33(5):399-402.
-
(1996)
J Med Genet
, vol.33
, Issue.5
, pp. 399-402
-
-
Blennow, E.1
Tillberg, E.2
-
5
-
-
0027067959
-
Complete characterization of a large marker chromosome by reverse and forward chromosome painting
-
Blennow E, Telenius H, Larsson C, de Vos D, Bajalica S, Ponder BA, Nordenskjold M. 1992. Complete characterization of a large marker chromosome by reverse and forward chromosome painting. Hum Genet 90(4):371-374.
-
(1992)
Hum Genet
, vol.90
, Issue.4
, pp. 371-374
-
-
Blennow, E.1
Telenius, H.2
Larsson, C.3
De Vos, D.4
Bajalica, S.5
Ponder, B.A.6
Nordenskjold, M.7
-
6
-
-
0027485183
-
Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH)
-
Blennow E, Anneren G, Bui TH,Berggren E, Asadi E, Nordenskjold M. 1993. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Hum Genet 53(2):433-442.
-
(1993)
Am J Hum Genet
, vol.53
, Issue.2
, pp. 433-442
-
-
Blennow, E.1
Anneren, G.2
Bui, T.H.3
Berggren, E.4
Asadi, E.5
Nordenskjold, M.6
-
7
-
-
0028027588
-
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization
-
Blennow E, Bui TH, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M. 1994a. Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization. Prenat Diagn 14(11):1019-1028.
-
(1994)
Prenat Diagn
, vol.14
, Issue.11
, pp. 1019-1028
-
-
Blennow, E.1
Bui, T.H.2
Kristoffersson, U.3
Vujic, M.4
Anneren, G.5
Holmberg, E.6
Nordenskjold, M.7
-
8
-
-
0028330999
-
Tetrasomy 15q: Two marker chromosomes with no detectable alpha-satellite DNA
-
Blennow E, Telenius H, de Vos D, Larsson C, Henriksson P, Johansson O, Carter NP, Nordenskjold M. 1994b. Tetrasomy 15q: Two marker chromosomes with no detectable alpha-satellite DNA. Am J Hum Genet 54(5):877-883.
-
(1994)
Am J Hum Genet
, vol.54
, Issue.5
, pp. 877-883
-
-
Blennow, E.1
Telenius, H.2
De Vos, D.3
Larsson, C.4
Henriksson, P.5
Johansson, O.6
Carter, N.P.7
Nordenskjold, M.8
-
9
-
-
0028947788
-
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
-
Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M. 1995. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. Am J Med Genet 55(1):85-94.
-
(1995)
Am J Med Genet
, vol.55
, Issue.1
, pp. 85-94
-
-
Blennow, E.1
Nielsen, K.B.2
Telenius, H.3
Carter, N.P.4
Kristoffersson, U.5
Holmberg, E.6
Gillberg, C.7
Nordenskjold, M.8
-
10
-
-
0032965397
-
Applications of comparative genomic hybridisation in constitutional chromosome studies
-
Breen CJ, Barton L, Carey A, Dunlop A, Glancy M, Hall K, Hegarty AM, Khokhar MT, Power M, Ryan K, Green AJ, Stallings RL. 1999. Applications of comparative genomic hybridisation in constitutional chromosome studies. J Med Genet 36(7):511-517.
-
(1999)
J Med Genet
, vol.36
, Issue.7
, pp. 511-517
-
-
Breen, C.J.1
Barton, L.2
Carey, A.3
Dunlop, A.4
Glancy, M.5
Hall, K.6
Hegarty, A.M.7
Khokhar, M.T.8
Power, M.9
Ryan, K.10
Green, A.J.11
Stallings, R.L.12
-
11
-
-
0021917574
-
Forty four probands with an additional "marker" chromosome
-
Buckton KE, Spowart G, Newton MS, Evans HJ. 1985. Forty four probands with an additional "marker" chromosome. Hum Genet 69(4):353-370.
-
(1985)
Hum Genet
, vol.69
, Issue.4
, pp. 353-370
-
-
Buckton, K.E.1
Spowart, G.2
Newton, M.S.3
Evans, H.J.4
-
12
-
-
0025007098
-
The isochromosome 18p syndrome: Confirmation of cytogenetic diagnosis in nine cases by in situ hybridization
-
Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA. 1990. The isochromosome 18p syndrome: Confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet 47(3):493-498.
-
(1990)
Am J Hum Genet
, vol.47
, Issue.3
, pp. 493-498
-
-
Callen, D.F.1
Freemantle, C.J.2
Ringenbergs, M.L.3
Baker, E.4
Eyre, H.J.5
Romain, D.6
Haan, E.A.7
-
13
-
-
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. 1991. Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics. Am J Hum Genet 48(4):769-782.
-
(1991)
Am J Hum Genet
, vol.48
, Issue.4
, 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
-
14
-
-
0026680297
-
Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes
-
Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA. 1992. Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. Am J Med Genet 43(4):709-715.
-
(1992)
Am J Med Genet
, vol.43
, Issue.4
, pp. 709-715
-
-
Callen, D.F.1
Eyre, H.2
Yip, M.Y.3
Freemantle, J.4
Haan, E.A.5
-
15
-
-
0027994534
-
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
-
Cheng SD, Spinner NB, Zackai EH, Knoll JH. 1994. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55(4):753-759.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.4
, pp. 753-759
-
-
Cheng, S.D.1
Spinner, N.B.2
Zackai, E.H.3
Knoll, J.H.4
-
16
-
-
0002734195
-
High risk of uniparental disomy 15 associated amniotic fluid containing a de novo small supernumerary marker 15 chromosomes
-
Christian SL, Mills P, Das S, Ledbetter DH. 1998. High risk of uniparental disomy 15 associated amniotic fluid containing a de novo small supernumerary marker 15 chromosomes. Am J Hum Genet 63:A11.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Christian, S.L.1
Mills, P.2
Das, S.3
Ledbetter, D.H.4
-
17
-
-
0035497749
-
FISH characterization of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation
-
Cockwell AE, Davalos IP, Rivera HR, Crolla JA. 2001. FISH characterization of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. Am J Med Genet 103:289-294.
-
(2001)
Am J Med Genet
, vol.103
, pp. 289-294
-
-
Cockwell, A.E.1
Davalos, I.P.2
Rivera, H.R.3
Crolla, J.A.4
-
18
-
-
0021920702
-
Multiple congenital anomalies, mental retardation, and hypogonadotropic hypogonadism in a boy with small marker chromosomes
-
Copeland KC, Hansen K, Moore CM. 1985. Multiple congenital anomalies, mental retardation, and hypogonadotropic hypogonadism in a boy with small marker chromosomes. Am J Med Genet 20(4):607-612.
-
(1985)
Am J Med Genet
, vol.20
, Issue.4
, pp. 607-612
-
-
Copeland, K.C.1
Hansen, K.2
Moore, C.M.3
-
19
-
-
0032820496
-
Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15
-
Cotter PD, Ledesma CT, Dietz LG, Pusso S, Wohlferd MM, Goldberg JD. 1999. Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15. Prenat Diagn 19(8):721-726.
-
(1999)
Prenat Diagn
, vol.19
, Issue.8
, pp. 721-726
-
-
Cotter, P.D.1
Ledesma, C.T.2
Dietz, L.G.3
Pusso, S.4
Wohlferd, M.M.5
Goldberg, J.D.6
-
20
-
-
0032477707
-
FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15:11. Review of the literature
-
Crolla JA. 1996. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15:11. Review of the literature. Am J Hum Genet 75:367-381.
-
(1996)
Am J Hum Genet
, vol.75
, pp. 367-381
-
-
Crolla, J.A.1
-
21
-
-
0032477707
-
FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15:11. Review of the literature
-
Crolla JA. 1998. FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15:11. Review of the literature. Am J Med Genet 75(4):367-381.
-
(1998)
Am J Med Genet
, vol.75
, Issue.4
, pp. 367-381
-
-
Crolla, J.A.1
-
22
-
-
0026672009
-
A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man
-
Crolla JA, Dennis NR, Jacobs PA. 1992. A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J Med Genet 29(10):699-703.
-
(1992)
J Med Genet
, vol.29
, Issue.10
, pp. 699-703
-
-
Crolla, J.A.1
Dennis, N.R.2
Jacobs, P.A.3
-
23
-
-
0028821373
-
Supernumerary marker 15 chromosomes: A clinical, molecular, and FISH approach to diagnosis and prognosis
-
Crolla JA, Harvey JF, Sitch FL, Dennis NR. 1995. Supernumerary marker 15 chromosomes: A clinical, molecular, and FISH approach to diagnosis and prognosis. Hum Genet 95(2):161-170.
-
(1995)
Hum Genet
, vol.95
, Issue.2
, pp. 161-170
-
-
Crolla, J.A.1
Harvey, J.F.2
Sitch, F.L.3
Dennis, N.R.4
-
24
-
-
0030784523
-
A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes
-
Crolla JA, Howard P, Mitchell C, Long FL, Dennis NR. 1997. A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes. Am J Med Genet 72(4):440-447.
-
(1997)
Am J Med Genet
, vol.72
, Issue.4
, pp. 440-447
-
-
Crolla, J.A.1
Howard, P.2
Mitchell, C.3
Long, F.L.4
Dennis, N.R.5
-
25
-
-
0028131968
-
Identification of marker chromosomes in thirteen patients using FISH probing
-
Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M. 1994. Identification of marker chromosomes in thirteen patients using FISH probing. Am J Med Genet 53(1):8-18.
-
(1994)
Am J Med Genet
, vol.53
, Issue.1
, pp. 8-18
-
-
Daniel, A.1
Malafiej, P.2
Preece, K.3
Chia, N.4
Nelson, J.5
Smith, M.6
-
26
-
-
0016763628
-
Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome
-
de Gutierrez AC, Salamanca F, Lisker R, Sergovia A. 1975. Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome. Ann Genet 18:45-49.
-
(1975)
Ann Genet
, vol.18
, pp. 45-49
-
-
De Gutierrez, A.C.1
Salamanca, F.2
Lisker, R.3
Sergovia, A.4
-
27
-
-
0002141866
-
Prenatal diagnosis of maternal uniparental disomy of chromosome 15 in association with de novo supernumerary marker chromosome 15
-
Ebrahim SAD, Feldman B, Knaus A, Gyi K, Mills PL, Johnson MP, Evans MI. 1998. Prenatal diagnosis of maternal uniparental disomy of chromosome 15 in association with de novo supernumerary marker chromosome 15. Am J Hum Genet 63:A162.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Ebrahim, S.A.D.1
Feldman, B.2
Knaus, A.3
Gyi, K.4
Mills, P.L.5
Johnson, M.P.6
Evans, M.I.7
-
28
-
-
0032231561
-
Uniparental disomies in unselected populations
-
Engel E. 1998. Uniparental disomies in unselected populations. Am J Hum Genet 63(4):962-966.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.4
, pp. 962-966
-
-
Engel, E.1
-
29
-
-
0028859381
-
Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4
-
Fang YY, Eyre HJ, Bohlander SK, Estop A, McPherson E, Trager T, Riess O, Callen DF. 1995. Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4. Am J Hum Genet 57(5):1137-1142.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.5
, pp. 1137-1142
-
-
Fang, Y.Y.1
Eyre, H.J.2
Bohlander, S.K.3
Estop, A.4
McPherson, E.5
Trager, T.6
Riess, O.7
Callen, D.F.8
-
30
-
-
0032421068
-
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus
-
Gardner RJ, Robinson DO, Lamont L, Shield JP, Temple IK. 1998. Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clin Genet 54(6):522-525.
-
(1998)
Clin Genet
, vol.54
, Issue.6
, pp. 522-525
-
-
Gardner, R.J.1
Robinson, D.O.2
Lamont, L.3
Shield, J.P.4
Temple, I.K.5
-
31
-
-
0027164995
-
Infertility in carriers of two bisatellited marker chromosomes
-
Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G. 1993. Infertility in carriers of two bisatellited marker chromosomes. Clin Genet 44(2):71-75.
-
(1993)
Clin Genet
, vol.44
, Issue.2
, pp. 71-75
-
-
Gentile, M.1
Susca, F.2
Resta, N.3
Stella, A.4
Cascone, A.5
Guanti, G.6
-
32
-
-
0031769001
-
Identification of de novo chromosomal markers and derivatives by spectral karyotyping
-
Haddad BR, Schrock E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du Manoir S, Ried T. 1998. Identification of de novo chromosomal markers and derivatives by spectral karyotyping. Hum Genet 103(5):619-625.
-
(1998)
Hum Genet
, vol.103
, Issue.5
, pp. 619-625
-
-
Haddad, B.R.1
Schrock, E.2
Meck, J.3
Cowan, J.4
Young, H.5
Ferguson-Smith, M.A.6
Du Manoir, S.7
Ried, T.8
-
33
-
-
0023870563
-
Multiple, variable-sized, minute marker chromosomes
-
Hoo JJ, Lin CC. 1988. Multiple, variable-sized, minute marker chromosomes. Am J Med Genet 29(2):361-363.
-
(1988)
Am J Med Genet
, vol.29
, Issue.2
, pp. 361-363
-
-
Hoo, J.J.1
Lin, C.C.2
-
34
-
-
0023245058
-
Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: Frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age
-
Hook EB, Cross PK. 1987. Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: Frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age. Am J Hum Genet 40(2):83-101.
-
(1987)
Am J Hum Genet
, vol.40
, Issue.2
, pp. 83-101
-
-
Hook, E.B.1
Cross, P.K.2
-
35
-
-
0031060712
-
Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes
-
Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99(1):11-17.
-
(1997)
Hum Genet
, vol.99
, Issue.1
, pp. 11-17
-
-
Huang, B.1
Crolla, J.A.2
Christian, S.L.3
Wolf-Ledbetter, M.E.4
Macha, M.E.5
Papenhausen, P.N.6
Ledbetter, D.H.7
-
36
-
-
0028968840
-
A search for uniparental disomy in carriers of supernumerary marker chromosomes
-
James RS, Temple IK, Dennis NR, Crolla JA. 1995. A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3(1):21-26.
-
(1995)
Eur J Hum Genet
, vol.3
, Issue.1
, pp. 21-26
-
-
James, R.S.1
Temple, I.K.2
Dennis, N.R.3
Crolla, J.A.4
-
37
-
-
0034754559
-
High resolution comparative genomic hybridisation in clinical cytogenetics
-
Kirchhoff M, Rose H, Lundsteen C. 2001. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 38(11):740-744.
-
(2001)
J Med Genet
, vol.38
, Issue.11
, pp. 740-744
-
-
Kirchhoff, M.1
Rose, H.2
Lundsteen, C.3
-
38
-
-
0034846169
-
AcroM fluorescent in situ hybridization analyses ofmarker chromosomes
-
Langer S, Fauth C, Rocchi M, Murken J, Speicher MR. 2001. AcroM fluorescent in situ hybridization analyses ofmarker chromosomes. Hum Genet 109(2):152-158.
-
(2001)
Hum Genet
, vol.109
, Issue.2
, pp. 152-158
-
-
Langer, S.1
Fauth, C.2
Rocchi, M.3
Murken, J.4
Speicher, M.R.5
-
39
-
-
70449245071
-
Etudes des chromosomes somatiques de neut enfants mongoliens
-
Lejeune J, Gautier M, Turpin MR. 1959. Etudes des chromosomes somatiques de neut enfants mongoliens. C. R Acad Sci (Paris) 248:1721-1722.
-
(1959)
C R Acad Sci (Paris)
, vol.248
, pp. 1721-1722
-
-
Lejeune, J.1
Gautier, M.2
Turpin, M.R.3
-
40
-
-
0035051713
-
A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes, and chromosome specific telomere regions: A novel class of supernumerary marker chromosome?
-
Mackie Ogilvie C, Harrison RH, Horsley SW, Hodgson SV, Kearney L. 2001. A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes, and chromosome specific telomere regions: A novel class of supernumerary marker chromosome? Cytogenet Cell Genet 92(1-2):69-73.
-
(2001)
Cytogenet Cell Genet
, vol.92
, Issue.1-2
, pp. 69-73
-
-
Mackie Ogilvie, C.1
Harrison, R.H.2
Horsley, S.W.3
Hodgson, S.V.4
Kearney, L.5
-
41
-
-
0030772819
-
Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique
-
Mackie-Ogilvie C, Waddle K, Mandeville J, Seller MJ, Docherty Z. 1997. Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique. J Med Genet 34(11):912-916.
-
(1997)
J Med Genet
, vol.34
, Issue.11
, pp. 912-916
-
-
Mackie-Ogilvie, C.1
Waddle, K.2
Mandeville, J.3
Seller, M.J.4
Docherty, Z.5
-
42
-
-
0026602327
-
Two extra inv dup(15) chromosomes and male infertility: Second case
-
Manenti E. 1992. Two extra inv dup(15) chromosomes and male infertility: Second case. Am J Med Genet 42(3):402-403.
-
(1992)
Am J Med Genet
, vol.42
, Issue.3
, pp. 402-403
-
-
Manenti, E.1
-
43
-
-
0022543855
-
Infertility associated with two accessory bisatellited chromosomes
-
Martin-Lucas MA, Perez-Castillo A, Abrisqueta JA. 1986. Infertility associated with two accessory bisatellited chromosomes. Hum Genet 73(2):133-136.
-
(1986)
Hum Genet
, vol.73
, Issue.2
, pp. 133-136
-
-
Martin-Lucas, M.A.1
Perez-Castillo, A.2
Abrisqueta, J.A.3
-
44
-
-
0032612354
-
Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: Evidence against pathological significance of alphoid satellite DNA diminutions
-
Marzais B, Vorsanova SG, Roizes G, Yurov YB. 1999. Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: Evidence against pathological significance of alphoid satellite DNA diminutions. Tsitol Genet 33(1):25-31.
-
(1999)
Tsitol Genet
, vol.33
, Issue.1
, pp. 25-31
-
-
Marzais, B.1
Vorsanova, S.G.2
Roizes, G.3
Yurov, Y.B.4
-
45
-
-
0023154332
-
A patient with extreme variation in number and size of small marker chromosomes
-
Mascarello JT, Jones MC, Chambers SR. 1987. A patient with extreme variation in number and size of small marker chromosomes. Hum Genet 75(2):191-194.
-
(1987)
Hum Genet
, vol.75
, Issue.2
, pp. 191-194
-
-
Mascarello, J.T.1
Jones, M.C.2
Chambers, S.R.3
-
46
-
-
0033522781
-
Supernumerary ring chromosome 5 identified by FISH
-
Masuno M, Imaizumi K, Ishii T, Kimura J, Kuroki Y. 1999. Supernumerary ring chromosome 5 identified by FISH. Am J Med Genet 84(4):381.
-
(1999)
Am J Med Genet
, vol.84
, Issue.4
, pp. 381
-
-
Masuno, M.1
Imaizumi, K.2
Ishii, T.3
Kimura, J.4
Kuroki, Y.5
-
47
-
-
0034872750
-
Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism
-
Maurer B, Haaf T, Stout K, Reissmann N, Steinlein C, Schmid M. 2001. Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism. Cytogenet Cell Genet 93(3-4):182-187.
-
(2001)
Cytogenet Cell Genet
, vol.93
, Issue.3-4
, pp. 182-187
-
-
Maurer, B.1
Haaf, T.2
Stout, K.3
Reissmann, N.4
Steinlein, C.5
Schmid, M.6
-
48
-
-
0031663725
-
Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
-
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE. 1998. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenet Cell Genet 81(3-4):222-228.
-
(1998)
Cytogenet Cell Genet
, vol.81
, Issue.3-4
, pp. 222-228
-
-
McTaggart, K.E.1
Budarf, M.L.2
Driscoll, D.A.3
Emanuel, B.S.4
Ferreira, P.5
McDermid, H.E.6
-
49
-
-
0028021562
-
Molecular characterization of the marker chromosome associated with cat eye syndrome
-
Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE. 1994. Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet 55(1):134-142.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.1
, pp. 134-142
-
-
Mears, A.J.1
Duncan, A.M.2
Budarf, M.L.3
Emanuel, B.S.4
Sellinger, B.5
Siegel-Bartelt, J.6
Greenberg, C.R.7
McDermid, H.E.8
-
50
-
-
0032958525
-
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region
-
Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N. 1999. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet 36(4):326-329.
-
(1999)
J Med Genet
, vol.36
, Issue.4
, pp. 326-329
-
-
Miyoshi, O.1
Kondoh, T.2
Taneda, H.3
Otsuka, K.4
Matsumoto, T.5
Niikawa, N.6
-
51
-
-
0041630145
-
Risk assessment of prenatal double supernumerary ring(9) chromosomes
-
Mowrey PN, Williford B, Kratzer S, Tepperberg JH, Gadi I K, Phillips KK, Canterino J, Neal R, Dalayar T, Pappenhausen PR. 2001. Risk assessment of prenatal double supernumerary ring(9) chromosomes. Am J Hum Genet 68(Suppl 4):807.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.SUPPL. 4
, pp. 807
-
-
Mowrey, P.N.1
Williford, B.2
Kratzer, S.3
Tepperberg, J.H.4
Gadi, I.K.5
Phillips, K.K.6
Canterino, J.7
Neal, R.8
Dalayar, T.9
Pappenhausen, P.R.10
-
52
-
-
0042131086
-
Mosaicism for two de novo supernumerary markers derived from chromosomes 18 and 13
-
Nandi KN, McDonald MT, Rogers KK, Rao KW. 2001. Mosaicism for two de novo supernumerary markers derived from chromosomes 18 and 13. Am J Hum Genet 68(Suppl 4):793.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.SUPPL. 4
, pp. 793
-
-
Nandi, K.N.1
McDonald, M.T.2
Rogers, K.K.3
Rao, K.W.4
-
53
-
-
17744374774
-
A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH)
-
Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T. 2001. A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108(3):199-204.
-
(2001)
Hum Genet
, vol.108
, Issue.3
, pp. 199-204
-
-
Nietzel, A.1
Rocchi, M.2
Starke, H.3
Heller, A.4
Fiedler, W.5
Wlodarska, I.6
Loncarevic, I.F.7
Beensen, V.8
Claussen, U.9
Liehr, T.10
-
54
-
-
0027184219
-
Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization
-
Plattner R, Heerema NA, Howard-Peebles PN, Miles JH, Soukup S, Palmer CG. 1993. Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization. Hum Genet 91(6):589-598.
-
(1993)
Hum Genet
, vol.91
, Issue.6
, pp. 589-598
-
-
Plattner, R.1
Heerema, N.A.2
Howard-Peebles, P.N.3
Miles, J.H.4
Soukup, S.5
Palmer, C.G.6
-
55
-
-
0018331055
-
Recurrence of Down' syndrome associated with microchromosome
-
Ramos C, Rivera L, Benitez J, Tejedor E, Sanchez-Cascos A. 1979. Recurrence of Down' syndrome associated with microchromosome. Hum Genet 49(1):7-10.
-
(1979)
Hum Genet
, vol.49
, Issue.1
, pp. 7-10
-
-
Ramos, C.1
Rivera, L.2
Benitez, J.3
Tejedor, E.4
Sanchez-Cascos, A.5
-
56
-
-
0027240268
-
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
-
Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA. 1993. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet 30(9):756-760.
-
(1993)
J Med Genet
, vol.30
, Issue.9
, pp. 756-760
-
-
Robinson, W.P.1
Wagstaff, J.2
Bernasconi, F.3
Baccichetti, C.4
Artifoni, L.5
Franzoni, E.6
Suslak, L.7
Shih, L.Y.8
Aviv, H.9
Schinzel, A.A.10
-
57
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11-q13
-
Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. 1998. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 35(2):130-136.
-
(1998)
J Med Genet
, vol.35
, Issue.2
, pp. 130-136
-
-
Robinson, W.P.1
Dutly, F.2
Nicholls, R.D.3
Bernasconi, F.4
Penaherrera, M.5
Michaelis, R.C.6
Abeliovich, D.7
Schinzel, A.A.8
-
58
-
-
0033864187
-
A new molecular approach to investigate origin and formation of structural chromosome aberrations
-
Rothlisberger B, Schinzel A, Kotzot D. 2000. A new molecular approach to investigate origin and formation of structural chromosome aberrations. Chromosome Res 8(5):451-453.
-
(2000)
Chromosome Res
, vol.8
, Issue.5
, pp. 451-453
-
-
Rothlisberger, B.1
Schinzel, A.2
Kotzot, D.3
-
59
-
-
0029903203
-
A stable marker chromosome with a cryptic centromere: Evidence for centromeric sequences associated with an inverted duplication
-
Sacchi N, Magnani I, Fuhrman-Conti AM, Monard SP, Darfler M. 1996. A stable marker chromosome with a cryptic centromere: Evidence for centromeric sequences associated with an inverted duplication. Cytogenet Cell Genet 73(1-2):123-129.
-
(1996)
Cytogenet Cell Genet
, vol.73
, Issue.1-2
, pp. 123-129
-
-
Sacchi, N.1
Magnani, I.2
Fuhrman-Conti, A.M.3
Monard, S.P.4
Darfler, M.5
-
60
-
-
0026087355
-
Tetrasomy 12p (Pallister-Killian syndrome)
-
Schinzel A. 1991. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28(2):122-125.
-
(1991)
J Med Genet
, vol.28
, Issue.2
, pp. 122-125
-
-
Schinzel, A.1
-
61
-
-
0019461128
-
The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture
-
Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. 1981. The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 57(2):148-158.
-
(1981)
Hum Genet
, vol.57
, Issue.2
, pp. 148-158
-
-
Schinzel, A.1
Schmid, W.2
Fraccaro, M.3
Tiepolo, L.4
Zuffardi, O.5
Opitz, J.M.6
Lindsten, J.7
Zetterqvist, P.8
Enell, H.9
Baccichetti, C.10
Tenconi, R.11
Pagon, R.A.12
-
62
-
-
0038214755
-
Multicolor spectral karyotyping of human chromosomes
-
Schrock E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T. 1996. Multicolor spectral karyotyping of human chromosomes. Science 273:494-497.
-
(1996)
Science
, vol.273
, pp. 494-497
-
-
Schrock, E.1
Du Manoir, S.2
Veldman, T.3
Schoell, B.4
Wienberg, J.5
Ferguson-Smith, M.A.6
Ning, Y.7
Ledbetter, D.H.8
Bar-Am, I.9
Soenksen, D.10
Garini, Y.11
Ried, T.12
-
63
-
-
0032773588
-
Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins
-
Shanske AL, Dowling P, Schmidt R, White BJ, Russell B, Bogdanow A, Marion RW. 1999. Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins. J Med Genet 36(8):625-628.
-
(1999)
J Med Genet
, vol.36
, Issue.8
, pp. 625-628
-
-
Shanske, A.L.1
Dowling, P.2
Schmidt, R.3
White, B.J.4
Russell, B.5
Bogdanow, A.6
Marion, R.W.7
-
64
-
-
0015854617
-
Two kinships with accessory bisatellited chromosomes
-
Soudek D, McCreary BD, Laraya P, Dill FJ. 1973. Two kinships with accessory bisatellited chromosomes. Ann Genet 16(2):101-107.
-
(1973)
Ann Genet
, vol.16
, Issue.2
, pp. 101-107
-
-
Soudek, D.1
McCreary, B.D.2
Laraya, P.3
Dill, F.J.4
-
65
-
-
0025885573
-
Pallister-Killian syndrome: Characterization of the isochromosome 12p by fluorescent in situ hybridization
-
Speleman F, Leroy JG, Van Roy N, De Paepe A, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae MR, Orye E. 1991. Pallister-Killian syndrome: Characterization of the isochromosome 12p by fluorescent in situ hybridization. Am J Med Genet 41(3):381-387.
-
(1991)
Am J Med Genet
, vol.41
, Issue.3
, pp. 381-387
-
-
Speleman, F.1
Leroy, J.G.2
Van Roy, N.3
De Paepe, A.4
Suijkerbuijk, R.5
Brunner, H.6
Looijenga, L.7
Verschraegen-Spae, M.R.8
Orye, E.9
-
66
-
-
0034011451
-
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
-
Stankiewicz P, Bocian E, Jakubow-Durska K, Obersztyn E, Lato E, Starke H, Mroczek K, Mazurczak T. 2000. Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. J Med Genet 37(2):114-120.
-
(2000)
J Med Genet
, vol.37
, Issue.2
, pp. 114-120
-
-
Stankiewicz, P.1
Bocian, E.2
Jakubow-Durska, K.3
Obersztyn, E.4
Lato, E.5
Starke, H.6
Mroczek, K.7
Mazurczak, T.8
-
67
-
-
0021015403
-
The genetic significance of accessory bisatellited marker chromosomes
-
Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck HD, Schmidt A, Wolf M. 1983. The genetic significance of accessory bisatellited marker chromosomes. Hum Genet 65(2):155-164.
-
(1983)
Hum Genet
, vol.65
, Issue.2
, pp. 155-164
-
-
Steinbach, P.1
Djalali, M.2
Hansmann, I.3
Kattner, E.4
Meisel-Stosiek, M.5
Probeck, H.D.6
Schmidt, A.7
Wolf, M.8
-
68
-
-
0034657753
-
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype
-
Tan-Sindhunata G, Castedo S, Leegte B, Mulder I, vd Veen AY, vd Hout AH, Wiersma TJ, van Essen AJ. 2000. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. Am J Med Genet 92(2):147-152.
-
(2000)
Am J Med Genet
, vol.92
, Issue.2
, pp. 147-152
-
-
Tan-Sindhunata, G.1
Castedo, S.2
Leegte, B.3
Mulder, I.4
Veen, Vd.A.Y.5
Hout, Vd.A.H.6
Wiersma, T.J.7
Van Essen, A.J.8
-
69
-
-
0031759053
-
Hybridization of chromosome 18 alpha-satellite DNA probe to chromosome 22
-
Thangavelu M, Chen PX, Pergament E. 1998. Hybridization of chromosome 18 alpha-satellite DNA probe to chromosome 22. Prenat Diagn 18(9):922-925.
-
(1998)
Prenat Diagn
, vol.18
, Issue.9
, pp. 922-925
-
-
Thangavelu, M.1
Chen, P.X.2
Pergament, E.3
-
70
-
-
0023837242
-
Multiple "marker" chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies
-
Tozzi C, Calvieri F, Alesi L, Neri G. 1988. Multiple "marker" chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies. Am J Med Genet 29(2):355-359.
-
(1988)
Am J Med Genet
, vol.29
, Issue.2
, pp. 355-359
-
-
Tozzi, C.1
Calvieri, F.2
Alesi, L.3
Neri, G.4
-
71
-
-
0035888237
-
Minute supernumerary marker chromosomes identified in two patients with a related larger psuedodicentric chromosome
-
Tung G, Covert SM, Malabed KL, Wohlfred MW, Beckerman KP, Goldberg JD, Cotter PD. 2001. Minute supernumerary marker chromosomes identified in two patients with a related larger psuedodicentric chromosome. Am J Med Genet 103:193-197.
-
(2001)
Am J Med Genet
, vol.103
, pp. 193-197
-
-
Tung, G.1
Covert, S.M.2
Malabed, K.L.3
Wohlfred, M.W.4
Beckerman, K.P.5
Goldberg, J.D.6
Cotter, P.D.7
-
72
-
-
0027976191
-
Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome
-
Urioste M, Visedo G, Sanchis A, Sentis C, Villa A, Ludena P, Hortiguela JL, Martinez-Frias ML, Fernandez-Piqueras J. 1994. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome. Am J Med Genet 49(1):77-82.
-
(1994)
Am J Med Genet
, vol.49
, Issue.1
, pp. 77-82
-
-
Urioste, M.1
Visedo, G.2
Sanchis, A.3
Sentis, C.4
Villa, A.5
Ludena, P.6
Hortiguela, J.L.7
Martinez-Frias, M.L.8
Fernandez-Piqueras, J.9
-
73
-
-
0017714188
-
The origin and behavior of two isodicentric bisatellited chromosomes
-
Van Dyke DL, Weiss L, Logan M, Pai GS. 1977. The origin and behavior of two isodicentric bisatellited chromosomes. Am J Hum Genet 29(3):294-300.
-
(1977)
Am J Hum Genet
, vol.29
, Issue.3
, pp. 294-300
-
-
Van Dyke, D.L.1
Weiss, L.2
Logan, M.3
Pai, G.S.4
-
74
-
-
0028233254
-
Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes
-
Viersbach R, Schwanitz G, Nothen MM. 1994. Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes. Hum Genet 93(6):663-667.
-
(1994)
Hum Genet
, vol.93
, Issue.6
, pp. 663-667
-
-
Viersbach, R.1
Schwanitz, G.2
Nothen, M.M.3
-
75
-
-
0032054591
-
Delineation of supernumerary marker chromosomes in 38 patients
-
Viersbach R, Engels H, Gamerdinger U, Hansmann M. 1998. Delineation of supernumerary marker chromosomes in 38 patients. Am J Med Genet 76(4):351-358.
-
(1998)
Am J Med Genet
, vol.76
, Issue.4
, pp. 351-358
-
-
Viersbach, R.1
Engels, H.2
Gamerdinger, U.3
Hansmann, M.4
-
76
-
-
0027377802
-
A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: Activation of a latent centromere?
-
Voullaire LE, Slater HR, Petrovic V, Choo KH. 1993. A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: Activation of a latent centromere? Am J Hum Genet 52(6):1153-1163.
-
(1993)
Am J Hum Genet
, vol.52
, Issue.6
, pp. 1153-1163
-
-
Voullaire, L.E.1
Slater, H.R.2
Petrovic, V.3
Choo, K.H.4
-
77
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. Am J Hum Genet 49(5):995-1013.
-
(1991)
Am J Hum Genet
, vol.49
, Issue.5
, pp. 995-1013
-
-
Warburton, D.1
-
78
-
-
0028128302
-
Inv dup(15) supernumerary marker chromosomes
-
Webb T. 1994. Inv dup(15) supernumerary marker chromosomes. J Med Genet 31(8):585-594.
-
(1994)
J Med Genet
, vol.31
, Issue.8
, pp. 585-594
-
-
Webb, T.1
-
79
-
-
0027506860
-
Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1)
-
Wiktor A, Van Dyke DL, Weiss L. 1993. Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1). Am J Med Genet 45(1):22-24.
-
(1993)
Am J Med Genet
, vol.45
, Issue.1
, pp. 22-24
-
-
Wiktor, A.1
Van Dyke, D.L.2
Weiss, L.3
|