-
1
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen, R.C., Zoghbi, H.Y., Moseley, A.B., Rosenblatt, H.M., Belmont, J.W. (1992). Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation, Am. J. Hum. Genet., 51, 1229-1239.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
2
-
-
0024850652
-
Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl
-
Caiulo, A., Bardoni, B., Camerino, G., Guioli, S., Minelli, A., Piantanida, M., Crosato, F., Dalla Fior, T., Maraschio, P. (1989). Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl, Hum. Genet., 84, 51-54.
-
(1989)
Hum. Genet.
, vol.84
, pp. 51-54
-
-
Caiulo, A.1
Bardoni, B.2
Camerino, G.3
Guioli, S.4
Minelli, A.5
Piantanida, M.6
Crosato, F.7
Dalla Fior, T.8
Maraschio, P.9
-
3
-
-
0019798833
-
A case of trisomy of chromosome 15
-
Coldwell, S., Fitzgerald, B., Semmens, J.M., Ede, R., Bateman, C. (1981). A case of trisomy of chromosome 15, J. Med. Genet., 18, 146-148.
-
(1981)
J. Med. Genet.
, vol.18
, pp. 146-148
-
-
Coldwell, S.1
Fitzgerald, B.2
Semmens, J.M.3
Ede, R.4
Bateman, C.5
-
4
-
-
0025086138
-
Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chrorionic villi and its implications for studying genetic causes of pregnancy wastage
-
Eiben, B., Bartels, I., Bähr-Porsch, S., Borgmann, S., Gatz, G., Gellert, G., Goebel, R., Hammans, W., Hentemann, M., Osmers, R., Rauskolb, R., Hansmann, I. (1990). Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chrorionic villi and its implications for studying genetic causes of pregnancy wastage, Am. J. Hum. Genet., 47, 656-663.
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 656-663
-
-
Eiben, B.1
Bartels, I.2
Bähr-Porsch, S.3
Borgmann, S.4
Gatz, G.5
Gellert, G.6
Goebel, R.7
Hammans, W.8
Hentemann, M.9
Osmers, R.10
Rauskolb, R.11
Hansmann, I.12
-
5
-
-
0018575212
-
Factors predisposing to adjacent 2 and 3:1 disjunctions: Study of 161 human reciprocal translocations
-
Jalbert, P., Sele, B. (1979). Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations, J. Med. Genet., 16, 467-478.
-
(1979)
J. Med. Genet.
, vol.16
, pp. 467-478
-
-
Jalbert, P.1
Sele, B.2
-
6
-
-
0018953638
-
Reciprocal translocations: A way to predict the mode of unbalanced segregation by pachytene-diagram drawing. a study of 151 translocations
-
Jalbert, P., Sele, B., Jalbert, H. (1980). Reciprocal translocations: a way to predict the mode of unbalanced segregation by pachytene-diagram drawing. A study of 151 translocations, Hum. Genet., 55, 209-222.
-
(1980)
Hum. Genet.
, vol.55
, pp. 209-222
-
-
Jalbert, P.1
Sele, B.2
Jalbert, H.3
-
7
-
-
0025961506
-
Trisomy 15 associated with nonimmune hydrops
-
Kuller, J.A., Laifer, S.A. (1991). Trisomy 15 associated with nonimmune hydrops, Am. J. Perinatal., 8, 39-40.
-
(1991)
Am. J. Perinatal.
, vol.8
, pp. 39-40
-
-
Kuller, J.A.1
Laifer, S.A.2
-
8
-
-
0028819642
-
Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23
-
Kulharya, A.S., Roop, H., Kukolich, M.K., Nachtman, R.G., Belmont, J.W., Garcia-Heras, J. (1995). Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23, Am. J. Med. Genet., 56, 16-21.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 16-21
-
-
Kulharya, A.S.1
Roop, H.2
Kukolich, M.K.3
Nachtman, R.G.4
Belmont, J.W.5
Garcia-Heras, J.6
-
9
-
-
0030020453
-
Trisomy 15 mosaic derived from trisomic conceptus: Report of a case and a review
-
Markovic, V.D., Chitayat, D.A., Ritchie, S.M., Chodakowski, B.A., Hutton, E.M. (1996). Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review, Am. J. Med. Genet., 61, 363-370.
-
(1996)
Am. J. Med. Genet.
, vol.61
, pp. 363-370
-
-
Markovic, V.D.1
Chitayat, D.A.2
Ritchie, S.M.3
Chodakowski, B.A.4
Hutton, E.M.5
-
10
-
-
0026552763
-
Experiences with risk estimates for carriers of chromosomal reciprocal translocations
-
Midro, AT., Stengel-Rutkowski, S., Stene, J. (1992). Experiences with risk estimates for carriers of chromosomal reciprocal translocations, Clin. Genet., 41, 113-122.
-
(1992)
Clin. Genet.
, vol.41
, pp. 113-122
-
-
Midro, A.T.1
Stengel-Rutkowski, S.2
Stene, J.3
-
11
-
-
0030043609
-
Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant
-
Milunsky, J.M., Wyandt, H.E., Huang, X-L., Kang, X-Z., Elias, E.R., Milunsky, A. (1996). Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant, Am. J. Med. Genet., 61, 269-273.
-
(1996)
Am. J. Med. Genet.
, vol.61
, pp. 269-273
-
-
Milunsky, J.M.1
Wyandt, H.E.2
Huang, X.-L.3
Kang, X.-Z.4
Elias, E.R.5
Milunsky, A.6
-
12
-
-
0020397257
-
Phénotype atténué de la trisomie 4p par translocation t(X;4)(p21.2;p13)
-
Morichon-DelVallez, N., Couturier, J., Frison, B. (1982). Phénotype atténué de la trisomie 4p par translocation t(X;4)(p21.2;p13), Ann. Genet., 25, 246-248.
-
(1982)
Ann. Genet.
, vol.25
, pp. 246-248
-
-
Morichon-DelVallez, N.1
Couturier, J.2
Frison, B.3
-
13
-
-
0021270892
-
Mild expression of 3qter trisomy due to a de novo (X;3)(p22.3;q25.3) translocation
-
Rivera, H., Möller, M., Arreola, R., Cantú, J.M. (1984). Mild expression of 3qter trisomy due to a de novo (X;3)(p22.3;q25.3) translocation, Ann. Génét., 27, 112-114.
-
(1984)
Ann. Génét.
, vol.27
, pp. 112-114
-
-
Rivera, H.1
Möller, M.2
Arreola, R.3
Cantú, J.M.4
-
14
-
-
0002528624
-
Genetic risks of familial reciprocal and Robertsonian translocation carriers
-
Daniel, A. (Ed.). New York: Alan R. Liss
-
Stene, J., Stengel-Rutkowski, S. (1988). Genetic risks of familial reciprocal and Robertsonian translocation carriers. In: Daniel, A. (Ed.). The Cytogenetics of Mammalian Autosomal Rearrangements, New York: Alan R. Liss, 3-72.
-
(1988)
The Cytogenetics of Mammalian Autosomal Rearrangements
, pp. 3-72
-
-
Stene, J.1
Stengel-Rutkowski, S.2
-
15
-
-
0003508535
-
Trisomy
-
New York: Oxford University Press
-
Warburton, D., Byrne, J., Canki, N. (1991). Trisomy. In: Chromosome Abnormalities and Prenatal Development: An Atlas, New York: Oxford University Press, 57-62.
-
(1991)
Chromosome Abnormalities and Prenatal Development: An Atlas
, pp. 57-62
-
-
Warburton, D.1
Byrne, J.2
Canki, N.3
-
16
-
-
0017731460
-
Partial trisomy for the distal part of the long arm of the chromosome 15 due to a balanced maternal X/15 translocation
-
Zabel, B., Baumann, W. (1977). Partial trisomy for the distal part of the long arm of the chromosome 15 due to a balanced maternal X/15 translocation, Ann. Génét., 20, 285-289.
-
(1977)
Ann. Génét.
, vol.20
, pp. 285-289
-
-
Zabel, B.1
Baumann, W.2
-
17
-
-
0017868310
-
X-inactivation pattern in three cases of X/autosome translocation
-
Zabel, B.U., Baumann, W.A., Pirntke, W., Gerhard-Ratschow, K. (1978). X-inactivation pattern in three cases of X/autosome translocation, Am. J. Med. Genet., 1, 309-317.
-
(1978)
Am. J. Med. Genet.
, vol.1
, pp. 309-317
-
-
Zabel, B.U.1
Baumann, W.A.2
Pirntke, W.3
Gerhard-Ratschow, K.4
-
18
-
-
0017700630
-
Reduced phenotypic effect of partial trisomy 1q in a X/1 translocation
-
Zuffardi, O., Tiepolo, L., Scappaticci, S., Francesconi, D., Bianchi, C., Di Natale, D. (1977). Reduced phenotypic effect of partial trisomy 1q in a X/1 translocation, Ann. Génét., 20, 191-194.
-
(1977)
Ann. Génét.
, vol.20
, pp. 191-194
-
-
Zuffardi, O.1
Tiepolo, L.2
Scappaticci, S.3
Francesconi, D.4
Bianchi, C.5
Di Natale, D.6
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