-
1
-
-
0025360106
-
Genomic imprinting: Review and relevance to human diseases
-
Hall JG. 1990. Genomic imprinting: review and relevance to human diseases. Am. J. Hum. Genet. 46:857-73
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 857-873
-
-
Hall, J.G.1
-
4
-
-
0028357370
-
Imprinting: A gametes point of view
-
Barlow DP. 1994. Imprinting: a gametes point of view. Trends Genet. 10:194-99
-
(1994)
Trends Genet.
, vol.10
, pp. 194-199
-
-
Barlow, D.P.1
-
5
-
-
0029392362
-
Parthenogenesis in man
-
Surani MA. 1995. Parthenogenesis in man. Nature Genet. 11:111-13
-
(1995)
Nature Genet.
, vol.11
, pp. 111-113
-
-
Surani, M.A.1
-
7
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum. Mol. Genet. 4:1757-64
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
8
-
-
0028139060
-
Parental origin effects, genomic imprinting, and sex-ratio distortion: Double or nothing?
-
Sapienza C. 1994. Parental origin effects, genomic imprinting, and sex-ratio distortion: double or nothing? Am. J. Hum. Genet. 55:1073-75
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1073-1075
-
-
Sapienza, C.1
-
9
-
-
0028209550
-
New insights reveal complex mechanisms involved in genomic imprinting
-
Nicholls RD. 1994. New insights reveal complex mechanisms involved in genomic imprinting. Am. J. Hum. Genet. 54:733-40
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 733-740
-
-
Nicholls, R.D.1
-
11
-
-
0030579609
-
Molecular diagnosis of Prader-Willi syndrome: Comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns
-
Butler MG. 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. 61:188-90
-
(1996)
Am. J. Med. Genet.
, vol.61
, pp. 188-190
-
-
Butler, M.G.1
-
12
-
-
0028343218
-
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications
-
Buiting K, Dittrich B, Robinson WP, et al. 1994. Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum. Mol. Genet. 3:893-95
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 893-895
-
-
Buiting, K.1
Dittrich, B.2
Robinson, W.P.3
-
13
-
-
0030052505
-
Gene structure, DNA methylation, and imprinted expression of the human SNRPN Gene
-
Glenn CC, Saitoh S, Jong MTC, et al. 1996. Gene structure, DNA methylation, and imprinted expression of the human SNRPN Gene. Am. J. Hum. Genet. 58:335-46
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 335-346
-
-
Glenn, C.C.1
Saitoh, S.2
Jong, M.T.C.3
-
14
-
-
0028862472
-
Imprinting mutations in the Beckwith-Weidemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain
-
Reik W, Brown KW, Schneid H, et al. 1995. Imprinting mutations in the Beckwith-Weidemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum. Mol. Genet. 4:2379-85
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2379-2385
-
-
Reik, W.1
Brown, K.W.2
Schneid, H.3
-
16
-
-
0029001828
-
Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region
-
Robinson WP, Lalande M. 1995. Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region. Hum. Mol. Genet. 4:801-6
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 801-806
-
-
Robinson, W.P.1
Lalande, M.2
-
17
-
-
0029411508
-
A chromatin model of IGF2/H19 imprinting
-
Banerjee S, Smallwood A. 1995. A chromatin model of IGF2/H19 imprinting. Nature Genet. 11:237-38
-
(1995)
Nature Genet.
, vol.11
, pp. 237-238
-
-
Banerjee, S.1
Smallwood, A.2
-
18
-
-
0028914364
-
Uniparental disomy 7 in Russell Silver syndrome and primordial growth retardation
-
Kotzot D, Schmitt S, Bernasconi F, et al. 1995. Uniparental disomy 7 in Russell Silver syndrome and primordial growth retardation. Hum. Mol. Genet. 4:583-87
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bernasconi, F.3
-
20
-
-
0024463137
-
Isodisomy for chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A, et al. 1989. Isodisomy for chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am. J. Hum. Genet. 45:373-80
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
-
21
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus
-
Spotila LD, Sereda L, Prockop DJ. 1992. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am. J. Hum. Genet. 51:1396-405
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1396-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prockop, D.J.3
-
22
-
-
0027958604
-
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy
-
Brzustowicz LM, Allitto BA, Matseoane D, et al. 1994. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am. J. Hum. Genet. 54: 482-88
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 482-488
-
-
Brzustowicz, L.M.1
Allitto, B.A.2
Matseoane, D.3
-
23
-
-
0028111681
-
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
-
Hoglund P, Holmberg C, de la Chapelle A, Kere J. 1994. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am. J. Hum. Genet. 55:747-52
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 747-752
-
-
Hoglund, P.1
Holmberg, C.2
De La Chapelle, A.3
Kere, J.4
-
24
-
-
0028064649
-
Bloom syndrome and maternal uniparental disomy for chromosome 15
-
Woodage T, Prasad M, Dixon JW, et al. 1994. Bloom syndrome and maternal uniparental disomy for chromosome 15. Am. J. Hum. Genet. 55:74-80
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 74-80
-
-
Woodage, T.1
Prasad, M.2
Dixon, J.W.3
-
26
-
-
0028365598
-
Allelic specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting
-
Giddings SJ, King CD, Harman KW, et al. 1994. Allelic specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nature Genet. 6:310-13
-
(1994)
Nature Genet.
, vol.6
, pp. 310-313
-
-
Giddings, S.J.1
King, C.D.2
Harman, K.W.3
-
28
-
-
0028776070
-
Genomic imprinting, DNA methylation, cancer
-
Rainier S, Feinberg AP. 1994. Genomic imprinting, DNA methylation, cancer. J. Cancer Inst. 86:753-59
-
(1994)
J. Cancer Inst.
, vol.86
, pp. 753-759
-
-
Rainier, S.1
Feinberg, A.P.2
-
30
-
-
0026933325
-
Imprinting in leukemia
-
Reik W. 1992. Imprinting in leukemia. Nature 359:362-63
-
(1992)
Nature
, vol.359
, pp. 362-363
-
-
Reik, W.1
-
31
-
-
0028926888
-
Evidence for tumor suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: One probably imprinted, another associated with N-myc amplification
-
Caron H, Peter M, van Sluis P, et al. 1995. Evidence for tumor suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. Hum. Mol. Genet. 4:535-39
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 535-539
-
-
Caron, H.1
Peter, M.2
Van Sluis, P.3
-
32
-
-
0028142934
-
Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families
-
Heutink P, vanSchothorst EM, van der Mey AGL, et al. 1994. Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families. Eur. J. Hum. Genet. 2:148-58
-
(1994)
Eur. J. Hum. Genet.
, vol.2
, pp. 148-158
-
-
Heutink, P.1
VanSchothorst, E.M.2
Van Der Mey, A.G.L.3
-
33
-
-
0028019769
-
Parent-of-origin effects in multiple endocrine neoplasia type 2B
-
Carlson KM, Bracamontes J, Jackson CE, et al. 1994. Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am. J. Hum. Genet. 55:1076-82
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1076-1082
-
-
Carlson, K.M.1
Bracamontes, J.2
Jackson, C.E.3
-
35
-
-
0027399429
-
Imprinting in Albright's hereditary osteodystrophy
-
Davies SJ, Hughes HE. 1993. Imprinting in Albright's hereditary osteodystrophy. J. Med. Genet. 30:101-3
-
(1993)
J. Med. Genet.
, vol.30
, pp. 101-103
-
-
Davies, S.J.1
Hughes, H.E.2
-
36
-
-
0028143011
-
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy
-
Wilson LC, Oude Luttikhuis MEM, Clayton PT, et al. 1994. Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. J. Med. Genet. 31: 835-39
-
(1994)
J. Med. Genet.
, vol.31
, pp. 835-839
-
-
Wilson, L.C.1
Oude Luttikhuis, M.E.M.2
Clayton, P.T.3
-
37
-
-
0027516973
-
Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy
-
Schuster V, Eschenhagen T, Kruse K, et al. 1993. Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy. Eur. J. Pediatr. 152:185-89
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 185-189
-
-
Schuster, V.1
Eschenhagen, T.2
Kruse, K.3
-
38
-
-
0029126018
-
A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues
-
Tsang P, Gilles F, Yuan L, et al. 1995. A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues. Hum. Mol. Genet. 4:1499-507
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1499-1507
-
-
Tsang, P.1
Gilles, F.2
Yuan, L.3
-
39
-
-
0029043178
-
Establishment of functional imprinting of the H19 gene in human developing placentae
-
Jinno Y, Ikeda Y, Yun K, et al. 1995. Establishment of functional imprinting of the H19 gene in human developing placentae. Nature Genet. 10:318-24
-
(1995)
Nature Genet.
, vol.10
, pp. 318-324
-
-
Jinno, Y.1
Ikeda, Y.2
Yun, K.3
-
40
-
-
0028864462
-
Conservation of a maternal-specific methylation signal at the human 1GF2R locus
-
Smrzka OW, Fae I, Stoger R, et al. 1995. Conservation of a maternal-specific methylation signal at the human 1GF2R locus. Hum. Mol. Genet. 4:1945-52
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1945-1952
-
-
Smrzka, O.W.1
Fae, I.2
Stoger, R.3
-
41
-
-
0026849544
-
Monoallelic expression of the human H19 gene
-
Zhang Y, Tycko B. 1992. Monoallelic expression of the human H19 gene. Nature Genet. 1:40-44
-
(1992)
Nature Genet.
, vol.1
, pp. 40-44
-
-
Zhang, Y.1
Tycko, B.2
-
42
-
-
13344261391
-
Mutations in GPC3, a glypican gene cause the Simpson-Golabi-Behmel overgrowth syndrome
-
Pilia G, Hughes-Benzie RM, MacKenzie A, et al. 1996. Mutations in GPC3, a glypican gene cause the Simpson-Golabi-Behmel overgrowth syndrome. Nature Genet. 12:241-47
-
(1996)
Nature Genet.
, vol.12
, pp. 241-247
-
-
Pilia, G.1
Hughes-Benzie, R.M.2
MacKenzie, A.3
-
44
-
-
0029075558
-
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington Disease chromosomes
-
Kremer B, Almqvist E, Theilmann J, et al. 1995. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington Disease chromosomes. Am. J. Hum. Genet. 57:343-50
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 343-350
-
-
Kremer, B.1
Almqvist, E.2
Theilmann, J.3
|