-
1
-
-
0028953673
-
Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: Origin of abnormal chromosomes
-
Abeliovich, D., Dagan, J., Werner, M., Lerer, I., Shapira, Y., Meiner, V. (1995). Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of abnormal chromosomes, Eur. J. Hum. Genet., 3, 49-55.
-
(1995)
Eur. J. Hum. Genet.
, vol.3
, pp. 49-55
-
-
Abeliovich, D.1
Dagan, J.2
Werner, M.3
Lerer, I.4
Shapira, Y.5
Meiner, V.6
-
2
-
-
0027426276
-
Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14
-
Antonarakis, S.E., Blouin, J.-L., Maher, J., Avramopoulos, D., Thomas, G., Talbot, C.C. (1993). Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14, Am. J. Hum. Genet., 52, 1145-1152.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1145-1152
-
-
Antonarakis, S.E.1
Blouin, J.-L.2
Maher, J.3
Avramopoulos, D.4
Thomas, G.5
Talbot, C.C.6
-
3
-
-
0028219414
-
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
-
Bottani, A., Robinson, W.P., DeLozier-Blanchet, C.D., Engel, E., Morris, M.A., Schmitt, B., Thun-Hohenstein, L., Schinzel, A. (1994). Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?, Am. J. Med. Genet., 51, 35-40.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 35-40
-
-
Bottani, A.1
Robinson, W.P.2
DeLozier-Blanchet, C.D.3
Engel, E.4
Morris, M.A.5
Schmitt, B.6
Thun-Hohenstein, L.7
Schinzel, A.8
-
4
-
-
0030579609
-
Molecular diagnosis of Prader-Willi syndrome: Comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns
-
Butler, M.G. (1996). Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns, Am. J. Med. Genet., 61, 188-190.
-
(1996)
Am. J. Med. Genet.
, vol.61
, pp. 188-190
-
-
Butler, M.G.1
-
5
-
-
0021314588
-
Prader-Willi syndrome
-
Cassidy, S.B. (1984). Prader-Willi syndrome, Curr. Prob. Pediatr., 14, 1-55.
-
(1984)
Curr. Prob. Pediatr.
, vol.14
, pp. 1-55
-
-
Cassidy, S.B.1
-
6
-
-
0026629938
-
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
-
Cassidy, S.B., Lai, L.W., Erickson, R.P., Magnuson, L., Thomas, E., Gendron, R., Herrmann, J. (1992). Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy, Am. J. Hum. Genet., 51, 701-708.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 701-708
-
-
Cassidy, S.B.1
Lai, L.W.2
Erickson, R.P.3
Magnuson, L.4
Thomas, E.5
Gendron, R.6
Herrmann, J.7
-
7
-
-
10144258161
-
Molecular investigation of trisomy 15 demonstrates maternal MI non-disjunction and high risk for uniparental disomy 15
-
Christian, S.L., Smith, A.C.M., Black, S., Elder, F.F.B., Johnson, J.M.-P., Resta, R.G., Rocklin, M.L., Surti, U., Suslak, L., Verp, M.S., Wilkens, I., Ledbetter, D.H. (1995). Molecular investigation of trisomy 15 demonstrates maternal MI non-disjunction and high risk for uniparental disomy 15, Am. J. Hum. Genet., 57, A34.
-
(1995)
Am. J. Hum. Genet.
, vol.57
-
-
Christian, S.L.1
Smith, A.C.M.2
Black, S.3
Elder, F.F.B.4
Johnson, J.M.-P.5
Resta, R.G.6
Rocklin, M.L.7
Surti, U.8
Suslak, L.9
Verp, M.S.10
Wilkens, I.11
Ledbetter, D.H.12
-
9
-
-
0345378513
-
Maternal uniparental disomy for chromosome 14
-
Coviello, D.A., Panucci, E., Mantero, M.M., Perfumo, C., Guelfi, M., Borronco, C., Dagna-Bricarelli, F. (1995). Maternal uniparental disomy for chromosome 14, Am. J. Hum. Genet., 57, A111.
-
(1995)
Am. J. Hum. Genet.
, vol.57
-
-
Coviello, D.A.1
Panucci, E.2
Mantero, M.M.3
Perfumo, C.4
Guelfi, M.5
Borronco, C.6
Dagna-Bricarelli, F.7
-
10
-
-
0026595355
-
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
-
Dittrich, B., Robinson, W., Knoblauch, H., Buiting, K., Schmidt, K., Gillessen-Kaesbach, G., Horsthemke, B. (1992). Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum. Genet., 90, 313-315
-
(1992)
Hum. Genet.
, vol.90
, pp. 313-315
-
-
Dittrich, B.1
Robinson, W.2
Knoblauch, H.3
Buiting, K.4
Schmidt, K.5
Gillessen-Kaesbach, G.6
Horsthemke, B.7
-
11
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel, E. (1980). A new genetic concept: uniparental disomy and its potential effect, isodisomy, Am. J. Med. Genet., 6, 137-143.
-
(1980)
Am. J. Med. Genet.
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
12
-
-
0021229263
-
Maternal age-specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52,965 amniocenteses
-
Ferguson-Smith, M.A., Yates, J.R.W. (1984). Maternal age-specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52,965 amniocenteses, Prenat. Diagn., 4, 5-44.
-
(1984)
Prenat. Diagn.
, vol.4
, pp. 5-44
-
-
Ferguson-Smith, M.A.1
Yates, J.R.W.2
-
13
-
-
0027533517
-
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome
-
Freeman, S.B., May, K.M., Pettay, D., Fernhoff, P.M., Hassold, T.J. (1993). Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome, Am. J. Hum. Genet., 45, 625-30
-
(1993)
Am. J. Hum. Genet.
, vol.45
, pp. 625-630
-
-
Freeman, S.B.1
May, K.M.2
Pettay, D.3
Fernhoff, P.M.4
Hassold, T.J.5
-
14
-
-
0029640958
-
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype
-
Gillessen-Kaesbach, G., Albrecht, B., Passarge, E., Horsthemke, B. (1995). Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype, Am. J. Hum. Genet., 56, 328-329.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 328-329
-
-
Gillessen-Kaesbach, G.1
Albrecht, B.2
Passarge, E.3
Horsthemke, B.4
-
15
-
-
0028792586
-
Non-disjunction in human sperm: Evidence for an effect of increasing paternal age
-
Griffin, D.K., Abruzzo, M.A., Millie, E.A., Sheean, L.A., Feingold, E., Sherman, S.L., Hassold, T.J. (1995). Non-disjunction in human sperm: evidence for an effect of increasing paternal age, Hum. Mol. Genet., 4, 2227-2232.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2227-2232
-
-
Griffin, D.K.1
Abruzzo, M.A.2
Millie, E.A.3
Sheean, L.A.4
Feingold, E.5
Sherman, S.L.6
Hassold, T.J.7
-
16
-
-
0026341657
-
Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients
-
Hamabe, J., Fukushima, Y., Harada, N., Abe, K., Matsuo, N., Nagai, T., Yoshioka, A., Tonoki, H., Tsukino, R., Niikawa, N. (1991). Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients, Am. J. Med. Genet., 41, 54-63.
-
(1991)
Am. J. Med. Genet.
, vol.41
, pp. 54-63
-
-
Hamabe, J.1
Fukushima, Y.2
Harada, N.3
Abe, K.4
Matsuo, N.5
Nagai, T.6
Yoshioka, A.7
Tonoki, H.8
Tsukino, R.9
Niikawa, N.10
-
17
-
-
0021667423
-
Trisomy in man
-
Hassold, T.J., Jacobs, P.A. (1984). Trisomy in man, Annu. Rev. Genet., 18, 69-97.
-
(1984)
Annu. Rev. Genet.
, vol.18
, pp. 69-97
-
-
Hassold, T.J.1
Jacobs, P.A.2
-
18
-
-
0002711242
-
Mosaicism confined to chorionic tissue in human gestations
-
Fraccaro, M. et al. (Eds). Berlin: Springer-Verlag
-
Kalousek. D.K. (1985). Mosaicism confined to chorionic tissue in human gestations. In: Fraccaro, M. et al. (Eds). First Trimester Fetal Diagnosis, Berlin: Springer-Verlag, 130-136.
-
(1985)
First Trimester Fetal Diagnosis
, pp. 130-136
-
-
Kalousek, D.K.1
-
19
-
-
0028268934
-
Current topic: Confined placental mosaicism and intrauterine fetal development
-
Kalousek, D.K. (1994). Current topic: confined placental mosaicism and intrauterine fetal development, Placenta, 15, 219-230.
-
(1994)
Placenta
, vol.15
, pp. 219-230
-
-
Kalousek, D.K.1
-
20
-
-
0020606517
-
Chromosomal mosaicism confined to the placenta in human conceptions
-
Kalousek, D.K., Dill, F.J. (1983). Chromosomal mosaicism confined to the placenta in human conceptions, Science, 221, 665-667.
-
(1983)
Science
, vol.221
, pp. 665-667
-
-
Kalousek, D.K.1
Dill, F.J.2
-
21
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter, D.H., Engel E. (1995). Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis, Hum. Mol. Genet., 4, 1757-1764.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
22
-
-
0019377986
-
Deletions of chromosome 15 as a cause of Prader-Willi syndrome
-
Ledbetter, D.H., Riccardi, V.M., Airhart, S.D., Strobel, R.J., Keenan, S.B., Crawford, J.D. (1981). Deletions of chromosome 15 as a cause of Prader-Willi syndrome, N. Engl. J. Med., 304, 325-329.
-
(1981)
N. Engl. J. Med.
, vol.304
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, S.B.5
Crawford, J.D.6
-
24
-
-
0026080417
-
Uniparental paternal disomy in Angelman's syndrome
-
Malcolm, S., Clayton-Smith, J., Nichols, M., et al. (1991). Uniparental paternal disomy in Angelman's syndrome, Lancet, 337, 694-697.
-
(1991)
Lancet
, vol.337
, pp. 694-697
-
-
Malcolm, S.1
Clayton-Smith, J.2
Nichols, M.3
-
25
-
-
0028818839
-
The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH
-
Martin, R.H., Spriggs, E., Ko, E., Rademaker, A.W. (1995). The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH, Am. J. Hum. Genet., 57, 1395-1399.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1395-1399
-
-
Martin, R.H.1
Spriggs, E.2
Ko, E.3
Rademaker, A.W.4
-
26
-
-
0026647855
-
The frequency of uniparental disomy in Prader-Willi syndrome
-
Mascari, M.J., Gottlieb, W., Rogan, P.K., Butler, M.G., Waller, D.A., Armour, J.A.L., Jeffreys, A.J., Ladda, R.L., Nicholls, R.D. (1992). The frequency of uniparental disomy in Prader-Willi syndrome, N. Engl. J. Med., 326, 1599-1607.
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 1599-1607
-
-
Mascari, M.J.1
Gottlieb, W.2
Rogan, P.K.3
Butler, M.G.4
Waller, D.A.5
Armour, J.A.L.6
Jeffreys, A.J.7
Ladda, R.L.8
Nicholls, R.D.9
-
27
-
-
0001495044
-
Chromosomal findings in chorionic villi. A collaborative study
-
Vogel. F., Sperling, K. (Eds). Berlin: Springer-Verlag
-
Mikkelsen, M., Ayme, S. (1987). Chromosomal findings in chorionic villi. A collaborative study. In: Vogel. F., Sperling, K. (Eds). Human Genetics, Berlin: Springer-Verlag, 596-606.
-
(1987)
Human Genetics
, pp. 596-606
-
-
Mikkelsen, M.1
Ayme, S.2
-
28
-
-
0029907547
-
A comparison of phenotype in patients with Prader-Willi syndrome (PWS) resulting from interstitial deletion and uniparental disomy
-
in press
-
Mitchell, J., Schinzel, A., Langlois, S., Gillessen-Kaesbach, G., Schuffenhauer, S., Michaelis, R., Abeliovich, D., Lerer, I., Christian, S., McFadden, D.F., Robinson, W.P. (1996). A comparison of phenotype in patients with Prader-Willi syndrome (PWS) resulting from interstitial deletion and uniparental disomy, Am. J. Med. Genet., in press.
-
(1996)
Am. J. Med. Genet.
-
-
Mitchell, J.1
Schinzel, A.2
Langlois, S.3
Gillessen-Kaesbach, G.4
Schuffenhauer, S.5
Michaelis, R.6
Abeliovich, D.7
Lerer, I.8
Christian, S.9
McFadden, D.F.10
Robinson, W.P.11
-
29
-
-
0027473988
-
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-13): Molecular diagnosis and mechanism of uniparental disomy
-
Mutirangura, A., Greenberg, F., Butler, M.G., Malcolm, S., Nicholls, R.D., Chakravarti, A., Ledbetter, D.H. (1993). Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-13): molecular diagnosis and mechanism of uniparental disomy, Hum. Mol. Genet., 2, 143-151.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 143-151
-
-
Mutirangura, A.1
Greenberg, F.2
Butler, M.G.3
Malcolm, S.4
Nicholls, R.D.5
Chakravarti, A.6
Ledbetter, D.H.7
-
30
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
-
Nicholls, R.D., Knoll, J.H.M., Butler, M.G., Karam, S., Lalande, M. (1989). Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome, Nature, 342, 281-285
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.M.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
31
-
-
0026802927
-
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome
-
Nicholls, R.D., Pai, G.S., Gottlieb, W., Cantu, E.S. (1992). Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann. Neurol., 32, 512-518.
-
(1992)
Ann. Neurol.
, vol.32
, pp. 512-518
-
-
Nicholls, R.D.1
Pai, G.S.2
Gottlieb, W.3
Cantu, E.S.4
-
32
-
-
0026680691
-
Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15
-
Purvis-Smith, S.G., Saville, T., Manass, S., Yip, M.-Y., Lam-Po-Tang, P.R.L., Duffy, B., Johnston, H., Leigh, D., McDonald, B. (1992). Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15, Am. J. Hum. Genet., 50, 1348-1350.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 1348-1350
-
-
Purvis-Smith, S.G.1
Saville, T.2
Manass, S.3
Yip, M.-Y.4
Lam-Po-Tang, P.R.L.5
Duffy, B.6
Johnston, H.7
Leigh, D.8
McDonald, B.9
-
33
-
-
0026353331
-
Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients
-
Robinson, W.P., Bottani, A., Yagang, X., Balakrishnan, J., Binkert, F., Machler, M., Prader, A., Schinzel, A. (1991). Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients, Am. J. Hum. Genet., 49, 1219-1234.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1219-1234
-
-
Robinson, W.P.1
Bottani, A.2
Yagang, X.3
Balakrishnan, J.4
Binkert, F.5
Machler, M.6
Prader, A.7
Schinzel, A.8
-
34
-
-
0027430806
-
Nondisjunction of chromosome 15: Origin and recombination
-
Robinson, W.P., Bernasconi, F., Mutirangura. A., Ledbetter, D.H., Langlois, S., Morris, M., Schinzel, A.A. (1993a). Nondisjunction of chromosome 15: origin and recombination, Am. J. Hum. Genet., 53, 740-751.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 740-751
-
-
Robinson, W.P.1
Bernasconi, F.2
Mutirangura, A.3
Ledbetter, D.H.4
Langlois, S.5
Morris, M.6
Schinzel, A.A.7
-
35
-
-
0027240268
-
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
-
Robinson, W.P., Wagstaff, J., Bernasconi, F., Baccichetti, C., Artifoni, L., Franzoni, E., Suslak, L., Shih, L-Y., Aviv, H., Schinzel, A.A. (1993b). 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, 756-760.
-
(1993)
J. Med. Genet.
, vol.30
, 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
-
36
-
-
0027872461
-
Increased parental ages and uniparental disomy 15: A paternal age effect?
-
Robinson, W.P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schinzel, A.A. (1993c). Increased parental ages and uniparental disomy 15: a paternal age effect?, Eur. J. Hum. Genet., 1, 280-286.
-
(1993)
Eur. J. Hum. Genet.
, vol.1
, pp. 280-286
-
-
Robinson, W.P.1
Lorda-Sanchez, I.2
Malcolm, S.3
Langlois, S.4
Schinzel, A.A.5
-
37
-
-
0028147431
-
Robertsonian translocations between homologous chromosomes are somatic events
-
Robinson, W.P., Bernasconi, F., Basaran, S., Neri, G., Zizka, J., Schinzel, A.A. (1994). Robertsonian translocations between homologous chromosomes are somatic events, Am. J. Hum. Genet., 54, 290-302.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 290-302
-
-
Robinson, W.P.1
Bernasconi, F.2
Basaran, S.3
Neri, G.4
Zizka, J.5
Schinzel, A.A.6
-
38
-
-
10144236818
-
The origin of trisomy confined to the placenta
-
Robinson, W.P., Langlois, S., Barrett, I., Clark, S., Bernard, L., Kalousek, D.K. (1995). The origin of trisomy confined to the placenta, Am. J. Hum. Genet., 57: A51.
-
(1995)
Am. J. Hum. Genet.
, vol.57
-
-
Robinson, W.P.1
Langlois, S.2
Barrett, I.3
Clark, S.4
Bernard, L.5
Kalousek, D.K.6
-
39
-
-
0028064274
-
Molecular and clinical study of 61 Angelman syndrome patients
-
Saitoh, S., Harada, N., Jinno, Y., Hashimoto, K., Imaizumi, K., Kuroki, Y., Fukushima, Y., et al. (1994). Molecular and clinical study of 61 Angelman syndrome patients, Am. J. Med. Genet., 52, 158-163.
-
(1994)
Am. J. Med. Genet.
, vol.52
, pp. 158-163
-
-
Saitoh, S.1
Harada, N.2
Jinno, Y.3
Hashimoto, K.4
Imaizumi, K.5
Kuroki, Y.6
Fukushima, Y.7
-
40
-
-
0002062341
-
Discordance between prenatal cytogenetic diagnosis after chorionic villi sampling and chromosomal constitution of the fetus
-
Fraccaro, M., Simoni, G., Brambati, G. (Eds) Berlin: Springer-Verlag
-
Simoni, G. (1985). Discordance between prenatal cytogenetic diagnosis after chorionic villi sampling and chromosomal constitution of the fetus. In: Fraccaro, M., Simoni, G., Brambati, G. (Eds) First Trimester Fetal Diagnosis, Berlin: Springer-Verlag, 137-143.
-
(1985)
First Trimester Fetal Diagnosis
, pp. 137-143
-
-
Simoni, G.1
-
41
-
-
0028675022
-
Confined placental mosaicism
-
Simoni, G., Sirchia, S.M. (1994). Confined placental mosaicism, Prenat. Diagn., 14, 1185-1189.
-
(1994)
Prenat. Diagn.
, vol.14
, pp. 1185-1189
-
-
Simoni, G.1
Sirchia, S.M.2
-
42
-
-
0026566594
-
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
-
Smeets, D.F., Hamel, B.C., Nelen, M.R., Smeets, H.J., Bollen, J.H., Smits, A.P., Ropers, H.H., van Oost, B.A. (1992). Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15, N. Engl. J. Med., 326, 807-811.
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 807-811
-
-
Smeets, D.F.1
Hamel, B.C.2
Nelen, M.R.3
Smeets, H.J.4
Bollen, J.H.5
Smits, A.P.6
Ropers, H.H.7
Van Oost, B.A.8
-
43
-
-
0027509686
-
Fluorescence in situ hybridization and molecular studies used in the characterization of a Robertsonian translocation (13q15q) in Prader-Willi syndrome
-
Smith, A., Robson, L., Neumann, A., Mulcahy, M., Chabros, V., Deng, Z.-M., Woodage, T., Trent, R. (1993). Fluorescence in situ hybridization and molecular studies used in the characterization of a Robertsonian translocation (13q15q) in Prader-Willi syndrome, Clin. Genet., 43, 5-8.
-
(1993)
Clin. Genet.
, vol.43
, pp. 5-8
-
-
Smith, A.1
Robson, L.2
Neumann, A.3
Mulcahy, M.4
Chabros, V.5
Deng, Z.-M.6
Woodage, T.7
Trent, R.8
-
44
-
-
0028210810
-
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
-
Smith, A., Deng, Z-M., Beran, R., Woodage, T., Trent, R.J. (1994). Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome, Hum. Genet., 93, 471-473.
-
(1994)
Hum. Genet.
, vol.93
, pp. 471-473
-
-
Smith, A.1
Deng, Z.-M.2
Beran, R.3
Woodage, T.4
Trent, R.J.5
-
45
-
-
0029065181
-
Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13
-
Spinner, N.B., Zackai, E., Cheng, S.-D., Knoll, J. (1995). Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13, Am. J. Med. Genet., 57, 61-65.
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 61-65
-
-
Spinner, N.B.1
Zackai, E.2
Cheng, S.-D.3
Knoll, J.4
-
46
-
-
0003791015
-
-
New York: Springer-Verlag
-
Therman, E., Susman, B. (1993). Human Chromosomes, 3rd edn, New York: Springer-Verlag, 288-301.
-
(1993)
Human Chromosomes, 3rd Edn
, pp. 288-301
-
-
Therman, E.1
Susman, B.2
-
47
-
-
0024591981
-
The non-random participation of human acrocentric chromosomes in Robertsonian translocations
-
Therman, E., Susman, B., Denniston, C. (1989). The non-random participation of human acrocentric chromosomes in Robertsonian translocations, Ann. Hum. Genet., 53, 49-65.
-
(1989)
Ann. Hum. Genet.
, vol.53
, pp. 49-65
-
-
Therman, E.1
Susman, B.2
Denniston, C.3
-
48
-
-
0028128302
-
Inv dup(15) supernumerary marker chromosomes
-
Webb, T. (1994). Inv dup(15) supernumerary marker chromosomes, J. Med. Genet., 31, 585-594.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 585-594
-
-
Webb, T.1
-
49
-
-
0028917529
-
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome
-
Webb, T., Clarke, D., Hardy, C.A., Kilpatrick, M.W., Corbett, J., Dahlitz, M. (1995). A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome, J. Med. Genet., 32, 181-185.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 181-185
-
-
Webb, T.1
Clarke, D.2
Hardy, C.A.3
Kilpatrick, M.W.4
Corbett, J.5
Dahlitz, M.6
-
50
-
-
3242710325
-
Molecular genetics guides clinical geneticist: Bedside to bench - Now a two way street
-
Zackai, E.H., McDonald-McGinn, D.M., Bason, L., Bingham, P., Pellegrino, J., Biegel, J., Wolff, D.J., et al. (1995). Molecular genetics guides clinical geneticist: bedside to bench - now a two way street (Abstract), Am. J. Hum. Genet., 57, A106.
-
(1995)
Am. J. Hum. Genet.
, vol.57
-
-
Zackai, E.H.1
McDonald-McGinn, D.M.2
Bason, L.3
Bingham, P.4
Pellegrino, J.5
Biegel, J.6
Wolff, D.J.7
|