-
1
-
-
0032127166
-
10 Years of genomics, chromosome 21, and Down syndrome
-
Antonarakis SE. 1998. 10 years of genomics, chromosome 21, and Down syndrome. Genomics 51: 1-16.
-
(1998)
Genomics
, vol.51
, pp. 1-16
-
-
Antonarakis, S.E.1
-
2
-
-
0025221059
-
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations
-
Antonarakis SE, Adelsberger PA, Petersen MB, Binkert F, Schinzel AA. 1990. Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet 47: 968-972.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 968-972
-
-
Antonarakis, S.E.1
Adelsberger, P.A.2
Petersen, M.B.3
Binkert, F.4
Schinzel, A.A.5
-
3
-
-
0014524898
-
46,XY,21qi-46,XY,21p-mosaicism in a child with Down's syndrome
-
Atkins L, Feingold M. 1969. 46,XY,21qi-46,XY,21p-mosaicism in a child with Down's syndrome. J Med Genet 6: 206-208.
-
(1969)
J Med Genet
, vol.6
, pp. 206-208
-
-
Atkins, L.1
Feingold, M.2
-
5
-
-
0031755758
-
Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation
-
Berend SA, Canun S, McCaskill C, Page SL, Shaffer LG. 1998. Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation. Am J Med Genet. 80: 252-259.
-
(1998)
Am J Med Genet
, vol.80
, pp. 252-259
-
-
Berend, S.A.1
Canun, S.2
McCaskill, C.3
Page, S.L.4
Shaffer, L.G.5
-
6
-
-
0029004732
-
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
-
Brondum-Nielsen K, Mikkelsen M. 1995. 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)
Prenat Diagn
, vol.15
, pp. 615-619
-
-
Brondum-Nielsen, K.1
Mikkelsen, M.2
-
7
-
-
0023806039
-
Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling
-
Callen DF, Korban G, Dawson G, et al. 1988. Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenat Diagn 8: 453-460.
-
(1988)
Prenat Diagn
, vol.8
, pp. 453-460
-
-
Callen, D.F.1
Korban, G.2
Dawson, G.3
-
8
-
-
0020367121
-
How do human isochromosomes arise?
-
de la Chapelle A. 1982. How do human isochromosomes arise? Cancer Genet Cytogenet 5: 173-179.
-
(1982)
Cancer Genet Cytogenet
, vol.5
, pp. 173-179
-
-
De la Chapelle, A.1
-
9
-
-
0024559975
-
An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations
-
Clarke MJ, Thomson DA, Griffiths MJ, Bissenden JG, Aukett A, Watt JL. 1989. An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations. J Med Genet 26: 198-201.
-
(1989)
J Med Genet
, vol.26
, pp. 198-201
-
-
Clarke, M.J.1
Thomson, D.A.2
Griffiths, M.J.3
Bissenden, J.G.4
Aukett, A.5
Watt, J.L.6
-
10
-
-
0032477707
-
FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature
-
Crolla JA. 1998. 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)
Am J Med Genet
, vol.75
, pp. 367-381
-
-
Crolla, J.A.1
-
11
-
-
0025637602
-
Origin of extra chromosome 21 in 343 families: Cytogenetic and molecular approaches
-
Dagna Bricarelli F, Pierluigi M, Grasso M, Strigini P, Perroni L. 1990. Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches. Am J Med Genet Suppl 7: 129-132.
-
(1990)
Am J Med Genet Suppl
, vol.7
, pp. 129-132
-
-
Dagna Bricarelli, F.1
Pierluigi, M.2
Grasso, M.3
Strigini, P.4
Perroni, L.5
-
12
-
-
0024590058
-
Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS, amnion- and placental culture
-
Eiben B, Hansen S, Knipping J, Massenberg R, Goebel R, Hammans W. 1989. Translocation trisomy 21 in CVS not found in embryoblast: three different cell lines in CVS, amnion- and placental culture. Prenat Diagn 9: 365-367.
-
(1989)
Prenat Diagn
, vol.9
, pp. 365-367
-
-
Eiben, B.1
Hansen, S.2
Knipping, J.3
Massenberg, R.4
Goebel, R.5
Hammans, W.6
-
13
-
-
0034068982
-
Fetoplacental chromosomal discrepancy
-
Farra C, Giudicelli B, Pellissier MC, Philip N, Piquet C. 2000. Fetoplacental chromosomal discrepancy. Prenat Diagn 20: 190-193.
-
(2000)
Prenat Diagn
, vol.20
, pp. 190-193
-
-
Farra, C.1
Giudicelli, B.2
Pellissier, M.C.3
Philip, N.4
Piquet, C.5
-
14
-
-
0028125704
-
Mosaicism with a normal cell line and an autosomal structural rearrangement
-
Gardner RJ, Dockery HE, Fitzgerald PH, et al. 1994. Mosaicism with a normal cell line and an autosomal structural rearrangement. J Med Genet 31: 108-114.
-
(1994)
J Med Genet
, vol.31
, pp. 108-114
-
-
Gardner, R.J.1
Dockery, H.E.2
Fitzgerald, P.H.3
-
15
-
-
0030858544
-
Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling
-
Goldberg JD, Wohlferd MM. 1997. Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling. Am J Obstet Gynecol 176: 1349-1352.
-
(1997)
Am J Obstet Gynecol
, vol.176
, pp. 1349-1352
-
-
Goldberg, J.D.1
Wohlferd, M.M.2
-
16
-
-
0024843654
-
Isochromosome not translocation in trisomy 21q21q
-
Grasso M, Giovannucci Uzielli ML, Pierluigi M, Tavellini F, Perroni L, Dagna Bricarelli F. 1989. Isochromosome not translocation in trisomy 21q21q. Hum Genet 84: 63-65.
-
(1989)
Hum Genet
, vol.84
, pp. 63-65
-
-
Grasso, M.1
Giovannucci Uzielli, M.L.2
Pierluigi, M.3
Tavellini, F.4
Perroni, L.5
Dagna Bricarelli, F.6
-
17
-
-
0030986393
-
Accuracy of cytogenetic findings on chorionic villus sampling (CVS) - Diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992
-
Hahnemann JM, Vejerslev LO. 1997. Accuracy of cytogenetic findings on chorionic villus sampling (CVS) - diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn 17: 801-820.
-
(1997)
Prenat Diagn
, vol.17
, pp. 801-820
-
-
Hahnemann, J.M.1
Vejerslev, L.O.2
-
18
-
-
0022637865
-
Chorionic villus sampling: Experience of the first 1000 cases
-
Hogge WA, Schonberg SA, Golbus MS. 1986. Chorionic villus sampling: experience of the first 1000 cases. Am J Obstet Gynecol 154: 1249-1252.
-
(1986)
Am J Obstet Gynecol
, vol.154
, pp. 1249-1252
-
-
Hogge, W.A.1
Schonberg, S.A.2
Golbus, M.S.3
-
19
-
-
0017098287
-
A case of atypical Down's syndrome with mosaic 46,XX/46,XX-21+t(21q21q)
-
Hornstein L, Soukup S. 1976. A case of atypical Down's syndrome with mosaic 46,XX/46,XX-21+t(21q21q). Clin Genet 10: 77-81.
-
(1976)
Clin Genet
, vol.10
, pp. 77-81
-
-
Hornstein, L.1
Soukup, S.2
-
20
-
-
13344294391
-
Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study
-
Hsu LY, Yu MT, Richkind KE, et al. 1996. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat Diagn 16: 1-28.
-
(1996)
Prenat Diagn
, vol.16
, pp. 1-28
-
-
Hsu, L.Y.1
Yu, M.T.2
Richkind, K.E.3
-
21
-
-
0022397871
-
Nucleolar organizer region variants as a risk factor for Down syndrome
-
Jackson-Cook CK, Flannery DB, Corey LA, Nance WE, Brown JA. 1985. Nucleolar organizer region variants as a risk factor for Down syndrome. Am J Hum Genet 37: 1049-1061.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 1049-1061
-
-
Jackson-Cook, C.K.1
Flannery, D.B.2
Corey, L.A.3
Nance, W.E.4
Brown, J.A.5
-
22
-
-
0033818049
-
Paternal meiotic origin of der(21;21) (q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome
-
Kotzot D, Schinzel A. 2000. Paternal meiotic origin of der(21;21) (q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome. Eur J Hum Genet 8: 709-712.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 709-712
-
-
Kotzot, D.1
Schinzel, A.2
-
24
-
-
0026682553
-
Cytogenetic results from the U.S. collaborative study on CVS
-
Ledbetter DH, Zachary JM, Simpson JL, et al. 1992. Cytogenetic results from the U.S. collaborative study on CVS. Prenat Diagn 12: 317-345.
-
(1992)
Prenat Diagn
, vol.12
, pp. 317-345
-
-
Ledbetter, D.H.1
Zachary, J.M.2
Simpson, J.L.3
-
25
-
-
0021274725
-
Prenatal diagnosis of mosaicism 46,XX/46,XX,-21,+t(21q21q)
-
Long WS, Mennuti MT, Emanuel BS, Zackai EH. 1984. Prenatal diagnosis of mosaicism 46,XX/46,XX,-21,+t(21q21q). Prenat Diagn 4: 73-77.
-
(1984)
Prenat Diagn
, vol.4
, pp. 73-77
-
-
Long, W.S.1
Mennuti, M.T.2
Emanuel, B.S.3
Zackai, E.H.4
-
26
-
-
0021357181
-
The origin of mosaic Down syndrome: Four cases with chromosome markers
-
Niikawa N, Kajii T. 1984. The origin of mosaic Down syndrome: four cases with chromosome markers. Am J Hum Genet 36: 123-130.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 123-130
-
-
Niikawa, N.1
Kajii, T.2
-
27
-
-
0031048551
-
Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus
-
Phillips OP, Velagaleti GV, Tharapel AT, Shulman LP. 1997. Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus. Prenat Diagn 17: 170-172.
-
(1997)
Prenat Diagn
, vol.17
, pp. 170-172
-
-
Phillips, O.P.1
Velagaleti, G.V.2
Tharapel, A.T.3
Shulman, L.P.4
-
28
-
-
0025011542
-
Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies
-
Sachs ES, Jahoda MG, Los FJ, Pijpers L, Reuss A, Wladimiroff JW. 1990. Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies. Am J Med Genet 37: 268-271.
-
(1990)
Am J Med Genet
, vol.37
, pp. 268-271
-
-
Sachs, E.S.1
Jahoda, M.G.2
Los, F.J.3
Pijpers, L.4
Reuss, A.5
Wladimiroff, J.W.6
-
30
-
-
0027451806
-
Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome
-
Shaffer LG, McCaskill C, Haller V, Brown JA, Jackson-Cook CK. 1993. Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome. Am J Med Genet 47: 1218-1222.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1218-1222
-
-
Shaffer, L.G.1
McCaskill, C.2
Haller, V.3
Brown, J.A.4
Jackson-Cook, C.K.5
-
31
-
-
0025656524
-
Epidemiology of Down syndrome in 118,265 consecutive births
-
Stoll C, Alembik Y, Dott B, Roth MP. 1990. Epidemiology of Down syndrome in 118,265 consecutive births. Am J Med Genet Suppl 7: 79-83.
-
(1990)
Am J Med Genet Suppl
, vol.7
, pp. 79-83
-
-
Stoll, C.1
Alembik, Y.2
Dott, B.3
Roth, M.P.4
-
32
-
-
0021130616
-
Mosaic Down's syndrome with de novo 45,XX,-21,-22, +t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement
-
Tharapel AT, Redheendran R, Mankinen CB, Kukolich MK. 1984. Mosaic Down's syndrome with de novo 45,XX,-21,-22, +t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement. J Med Genet 21: 391-395.
-
(1984)
J Med Genet
, vol.21
, pp. 391-395
-
-
Tharapel, A.T.1
Redheendran, R.2
Mankinen, C.B.3
Kukolich, M.K.4
-
33
-
-
0018892592
-
A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q)
-
Uchida IA, Whelan DT. 1980. A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q). Clin Genet 17: 271-274.
-
(1980)
Clin Genet
, vol.17
, pp. 271-274
-
-
Uchida, I.A.1
Whelan, D.T.2
-
34
-
-
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: 995-1013.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 995-1013
-
-
Warburton, D.1
-
35
-
-
0032920534
-
Mosaicism with a normal cell line and an unbalanced structural rearrangement
-
Zaslav AL, Fallet S, Blumenthal D, Jacob J, Fox J. 1999. Mosaicism with a normal cell line and an unbalanced structural rearrangement. Am J Med Genet 82: 15-19.
-
(1999)
Am J Med Genet
, vol.82
, pp. 15-19
-
-
Zaslav, A.L.1
Fallet, S.2
Blumenthal, D.3
Jacob, J.4
Fox, J.5
-
36
-
-
0028420380
-
Molecular analysis to assign parental origin and distinguish de novo i(21q) from t(21q21q) in two Down syndrome fetuses
-
Zhao J, Tharapel AT, Shulman LP, Simpson JL, Elias S. 1994. Molecular analysis to assign parental origin and distinguish de novo i(21q) from t(21q21q) in two Down syndrome fetuses. J Soc Gynecol Investig 1: 128-130.
-
(1994)
J Soc Gynecol Investig
, vol.1
, pp. 128-130
-
-
Zhao, J.1
Tharapel, A.T.2
Shulman, L.P.3
Simpson, J.L.4
Elias, S.5
|