-
1
-
-
0030591280
-
Detection of imprinting mutations in Angelman syndrome using a probe for exon α of SNRPN
-
Beuten J, Sutcliffe JS, Casey BM, Beaudet AL (1996): Detection of imprinting mutations in Angelman syndrome using a probe for exon α of SNRPN. Am J Med Genet 63:414-415.
-
(1996)
Am J Med Genet
, vol.63
, pp. 414-415
-
-
Beuten, J.1
Sutcliffe, J.S.2
Casey, B.M.3
Beaudet, A.L.4
-
2
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cause and diagnosis
-
Butler MG (1990): Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35:319-332.
-
(1990)
Am J Med Genet
, vol.35
, pp. 319-332
-
-
Butler, M.G.1
-
3
-
-
0025356466
-
Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15
-
Choo KH, Earle E, Vissel B, Filby RG (1990): Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15. Genomics 7:143-151.
-
(1990)
Genomics
, vol.7
, pp. 143-151
-
-
Choo, K.H.1
Earle, E.2
Vissel, B.3
Filby, R.G.4
-
4
-
-
0027941896
-
Exclusion of chromosome mosaicism in amniotic fluid cultures: Determination of number of colonies needed for accurate analysis
-
Featherstone T, Cheung SW, Spitznagel E, Peakman D (1994): Exclusion of chromosome mosaicism in amniotic fluid cultures: Determination of number of colonies needed for accurate analysis. Prenat Diagn 14: 1009-1017.
-
(1994)
Prenat Diagn
, vol.14
, pp. 1009-1017
-
-
Featherstone, T.1
Cheung, S.W.2
Spitznagel, E.3
Peakman, D.4
-
5
-
-
0027533517
-
Paternal uniparental disomy in a child with a balanced 15:15 translocation and Angelman syndrome
-
Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ (1993): Paternal uniparental disomy in a child with a balanced 15:15 translocation and Angelman syndrome. Am J Med Genet 45:625-630.
-
(1993)
Am J Med 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
-
7
-
-
0028933627
-
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region
-
Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC (1995): Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev 9:808-820.
-
(1995)
Genes Dev
, vol.9
, pp. 808-820
-
-
Gunaratne, P.H.1
Nakao, M.2
Ledbetter, D.H.3
Sutcliffe, J.S.4
Chinault, A.C.5
-
8
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J (1997): UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73.
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
9
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, Galjarrd RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL (1997): De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77.
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjarrd, R.J.4
Jiang, Y.H.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
-
10
-
-
0028147431
-
A somatic origin of homologous Robertsonian translocations and isochromosomes
-
Robinson WP, Bernasconi F, Basaran M, Yuksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LM, Luleci G, Schinzel AA (1994): A somatic origin of homologous Robertsonian translocations and isochromosomes. 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, M.3
Yuksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Farah, L.M.9
Luleci, G.10
Schinzel, A.A.11
-
11
-
-
0025981144
-
A molecular genetic approach to the identification of isochromosomes of chromosome 21
-
Shaffer LG, Jackson-Cook CK, Meyer JM, Brown JA, Spence JE (1991): A molecular genetic approach to the identification of isochromosomes of chromosome 21. Hum Genet 86:375-382.
-
(1991)
Hum Genet
, vol.86
, pp. 375-382
-
-
Shaffer, L.G.1
Jackson-Cook, C.K.2
Meyer, J.M.3
Brown, J.A.4
Spence, J.E.5
-
12
-
-
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 (1993a): 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
-
13
-
-
0027160691
-
Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome
-
Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH (1993b): Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386.
-
(1993)
Am J Med Genet
, vol.47
, pp. 383-386
-
-
Shaffer, L.G.1
Overhauser, J.2
Jackson, L.G.3
Ledbetter, D.H.4
-
14
-
-
0027993346
-
Molecular characterization of de novo secondary trisomy 13
-
Shaffer LG, McCaskill C, Han JY, Choo KHA, Cutillo DM, Donnenfeld AE, Weiss L, Van Dyke DL (1994): Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 968-974
-
-
Shaffer, L.G.1
McCaskill, C.2
Han, J.Y.3
Choo, K.H.A.4
Cutillo, D.M.5
Donnenfeld, A.E.6
Weiss, L.7
Van Dyke, D.L.8
-
15
-
-
0026601223
-
Characterization of Robertsonian translocations by using fluorescence in situ hybridization
-
Wolff DJ, Schwartz S (1992): Characterization of Robertsonian translocations by using fluorescence in situ hybridization. Am J Hum Genet 50:174-181.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 174-181
-
-
Wolff, D.J.1
Schwartz, S.2
|