-
1
-
-
0033361765
-
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
-
(1999)
Am J Hum Genet
, vol.65
, pp. 370-386
-
-
Amos-Landgraf, J.M.1
Ji, Y.2
Gottlieb, W.3
Depinet, T.4
Wandstrat, A.E.5
Cassidy, S.B.6
Driscoll, D.J.7
Rogan, P.K.8
Schwartz, S.9
Nicholls, R.D.10
-
2
-
-
0030902026
-
The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
-
(1997)
Neurology
, vol.48
, pp. 1081-1986
-
-
Battaglia, A.1
Gurrieri, F.2
Bertini, E.3
Bellacosa, A.4
Pomponi, M.G.5
Paravatou-Petsotas, M.6
Mazza, S.7
Neri, G.8
-
4
-
-
0028330999
-
Tetrasomy 15q: Two marker chromosomes with no detectable alpha-satellite DNA
-
(1994)
Am J Hum Genet
, vol.54
, 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
-
10
-
-
0026636630
-
A putative gene family in 15q11-q13 and 16p11.2: Possible implications for Prader-Willi and Angelman syndromes
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 5457-5461
-
-
Buiting, K.1
Greger, V.2
Brownstein, B.H.3
Mohr, R.M.4
Viovulescu, I.5
Winterpacht, A.6
Zabel, B.7
Horthemke, B.8
-
12
-
-
0030863574
-
Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome
-
(1997)
Am J Hum Genet
, vol.61
, pp. 228-231
-
-
Carrozzo, R.1
Rossi, E.2
Christian, S.L.3
Kittikamron, K.4
Livieri, C.5
Corrias, A.6
Pucci, L.7
Fois, A.8
Simi, P.9
Bosio, L.10
Beccaria, L.11
Zuffardi, O.12
Ledbetter, D.H.13
-
14
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
-
(1995)
Am J Hum Genet
, vol.57
, pp. 40-48
-
-
Christian, S.L.1
Robinson, W.P.2
Huang, B.3
Mutirangura, A.4
Line, M.R.5
Nakao, M.6
Surti, U.7
Chakravarti, A.8
Ledbetter, D.H.9
-
18
-
-
0026700732
-
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
-
(1992)
Genomics
, vol.13
, pp. 917-924
-
-
Driscoll, D.J.1
Waters, M.F.2
Williams, C.A.3
Zori, R.T.4
Glenn, C.C.5
Avidano, K.M.6
Nicholls, R.D.7
-
19
-
-
0031692007
-
Masquerading repeats: Paralogous pitfalls of the human genome
-
(1998)
Genome Res
, vol.8
, pp. 758-762
-
-
Eichler, E.E.1
-
20
-
-
0021229263
-
Maternal age specific rates for chromosome aberrations and factors influencing them: A report of a collaborative European study on 52,965 amniocenteses
-
(1984)
Prenat Diagn
, vol.4
, pp. 5-44
-
-
Ferguson-Smith, M.A.1
Yates, J.R.W.2
-
23
-
-
0030052505
-
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
-
(1996)
Am J Hum Genet
, vol.58
, pp. 335-346
-
-
Glenn, C.C.1
Saitoh, S.2
Jong, M.T.C.3
Filbrandt, M.M.4
Surti, U.5
Driscoll, D.J.6
-
24
-
-
0025360106
-
Genomic imprinting: Review and relevance to human disease
-
(1990)
Am J Hum Genet
, vol.46
, pp. 857-873
-
-
Hall, J.G.1
-
26
-
-
0023245058
-
Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: Frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age
-
(1987)
Am J Hum Genet
, vol.40
, pp. 83-101
-
-
Hook, E.B.1
Cross, P.K.2
-
28
-
-
85016918346
-
-
In: Dracopoi NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR (eds); Wiley, New York
-
(1995)
Current Protocols in Human Genetics
, pp. 3.2.8
-
-
Jackson, C.L.1
-
30
-
-
0033016617
-
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
-
(1999)
Hum Mol Genet
, vol.8
, pp. 533-542
-
-
Ji, Y.1
Walkowicz, M.J.2
Buiting, K.3
Johnson, D.K.4
Tarvin, R.E.5
Rinchik, E.M.6
Horsthemke, B.7
Stubbs, L.8
Nicholls, R.D.9
-
32
-
-
0029929955
-
Construction and characterization of a human bacterial artificial chromosome library
-
(1996)
Genomics
, vol.34
, pp. 213-218
-
-
Kim, U.J.1
Birren, B.W.2
Slepak, T.3
Mancino, V.4
Boysen, C.5
Kang, H.L.6
Simon, M.I.7
Shizuya, H.8
-
34
-
-
0027497889
-
FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions
-
(1993)
Hum Mol Genet
, vol.2
, pp. 183-189
-
-
Knoll, J.H.M.1
Sinnett, D.2
Wagstaff, J.3
Glatt, K.4
Wilcox, A.S.5
Whiting, P.M.6
Wingrove, P.7
Sikela, J.M.8
Lalande, M.9
-
35
-
-
0028205957
-
Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
-
(1994)
Am J Hum Genet
, vol.54
, pp. 748-756
-
-
Leana-Cox, J.1
Jenkins, L.2
Palmer, C.G.3
Plattner, R.4
Sheppard, L.5
Flejter, W.L.6
Zackowski, J.7
Tsien, F.8
Schwartz, S.9
-
37
-
-
13144294984
-
A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 9436-9441
-
-
Lehman, A.L.1
Nakatsu, Y.2
Ching, A.3
Bronson, R.T.4
Oakey, R.J.5
Keiper-Hrynko, N.6
Finger, J.N.7
Durham-Pierre, D.8
Horton, D.B.9
Newton, J.M.10
Lyon, M.F.11
Brilliant, M.H.12
-
39
-
-
0019827790
-
Preferential maternal derivation in inv dup(15)
-
(1981)
Hum Genet
, vol.57
, pp. 345-350
-
-
Maraschio, P.1
Zuffardi, O.2
Bernardi, F.3
Bozzola, M.4
De Paoli, C.5
Fonatsch, C.6
Flatz, S.D.7
Ghersini, L.8
Gimelli, G.9
Loi, M.10
Lorini, R.11
Peretti, D.12
Poloni, L.13
Tonetti, D.14
Vanni, R.15
Zamboni, G.16
-
42
-
-
0029960187
-
Clinical heterogeneity in 16 patients with inv dup(15) chromosome: Cytogenetic and molecular studies, search for an imprinting effect
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 88-100
-
-
Mignon, C.1
Malzac, P.2
Moncla, A.3
Depetris, D.4
Roeckel, N.5
Croquette, M.-F.6
Mattei, M.-G.7
-
43
-
-
0027787530
-
A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
-
(1993)
Genomics
, vol.18
, pp. 546-552
-
-
Mutirangura, A.1
Jayakumar, A.2
Sutcliffe, J.S.3
Nakao, M.4
McKinney, M.J.5
Buiting, K.6
Horsthemke, B.7
Beaudet, A.L.8
Chinault, A.C.9
Ledbetter, D.H.10
-
44
-
-
1542471167
-
Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 6686-6690
-
-
Nelson, D.L.1
Ledbetter, S.A.2
Corbo, L.3
Victoria, M.F.4
Ramirez-Solis, R.5
Webster, T.D.6
Ledbetter, D.H.7
Caskey, C.T.8
-
45
-
-
0027474137
-
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review
-
(1993)
Am J Med Genet
, vol.46
, pp. 16-25
-
-
Nicholls, R.D.1
-
47
-
-
0025921769
-
Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
-
(1991)
Hum Genet
, vol.87
, pp. 81-83
-
-
Nielsen, J.1
Wohlert, M.2
-
54
-
-
0027240268
-
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
-
(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, K.7
Shih, L.-Y.8
Aviv, H.9
Schinzel, A.10
-
55
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11-q13
-
(1998)
J Med Genet
, vol.35
, 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
-
62
-
-
0026338111
-
Localization of the gene encoding the GABA(A) receptor β3 subunit of the Angelman/Prader-Willi region of chromosome 15
-
(1991)
Am J Hum Genet
, vol.49
, pp. 330-337
-
-
Wagstaff, J.1
Knoll, J.H.M.2
Fleming, J.3
Kirkness, E.F.4
Martin-Gallardo, A.5
Greenberg, F.6
Graham, J.M.7
Menninger, J.8
Ward, D.9
Venter, J.C.10
Lalande, M.11
-
64
-
-
0021636647
-
Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis
-
(1984)
Prenat Diagn
, vol.4
, pp. 69-80
-
-
Warburton, D.1
-
65
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
(1991)
Am J Hum Genet
, vol.49
, pp. 995-1013
-
-
Warburton, D.1
|