-
1
-
-
0026849544
-
Monoallelic expression of the human H19 gene
-
Zhang, Y. and B. Tycko. 1992. Monoallelic expression of the human H19 gene. Nat Genet 1(1):40-44.
-
(1992)
Nat Genet
, vol.1
, Issue.1
, pp. 40-44
-
-
Zhang, Y.1
Tycko, B.2
-
3
-
-
0038118635
-
Imprinting evolution and the price of silence
-
Murphy, S. K. and R. L. Jirtle. 2003. Imprinting evolution and the price of silence. Bioessays 25(6):577-588.
-
(2003)
Bioessays
, vol.25
, Issue.6
, pp. 577-588
-
-
Murphy, S.K.1
Jirtle, R.L.2
-
4
-
-
77249087062
-
Genomic imprinting disorders in humans: A mini-review
-
Butler, M. G. 2009. Genomic imprinting disorders in humans: A mini-review. J Assist Reprod Genet 26(9-10), 477-486.
-
(2009)
J Assist Reprod Genet
, vol.26
, Issue.9-10
, pp. 477-486
-
-
Butler, M.G.1
-
5
-
-
33646346610
-
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth
-
Delaval, K., A. Wagschal, and R. Feil. 2006. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays 28(5):453-459.
-
(2006)
Bioessays
, vol.28
, Issue.5
, pp. 453-459
-
-
Delaval, K.1
Wagschal, A.2
Feil, R.3
-
6
-
-
33645456512
-
Interactions between imprinting effects: Summary and review
-
Cattanach, B. M., C. V. Beechey, and J. Peters. 2006. Interactions between imprinting effects: Summary and review. Cytogenet Genome Res 113(1-4), 17-23.
-
(2006)
Cytogenet Genome Res
, vol.113
, Issue.1-4
, pp. 17-23
-
-
Cattanach, B.M.1
Beechey, C.V.2
Peters, J.3
-
7
-
-
0022391691
-
Differential activity of maternally and paternally derived chromosome regions in mice
-
Cattanach, B. M. and M. Kirk. 1985. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315(6019):496-498.
-
(1985)
Nature
, vol.315
, Issue.6019
, pp. 496-498
-
-
Cattanach, B.M.1
Kirk, M.2
-
8
-
-
0021145377
-
Role of paternal and maternal genomes in mouse development
-
Barton, S. C., M. A. Surani, and M. L. Norris. 1984. Role of paternal and maternal genomes in mouse development. Nature 311(5984):374-376.
-
(1984)
Nature
, vol.311
, Issue.5984
, pp. 374-376
-
-
Barton, S.C.1
Surani, M.A.2
Norris, M.L.3
-
9
-
-
0021740225
-
Inability of mouse blastomere nuclei transferred to enucleated zygotes to support development in vitro
-
McGrath, J. and D. Solter. 1984. Inability of mouse blastomere nuclei transferred to enucleated zygotes to support development in vitro. Science 226(4680):1317-1319.
-
(1984)
Science
, vol.226
, Issue.4680
, pp. 1317-1319
-
-
McGrath, J.1
Solter, D.2
-
10
-
-
0001210920
-
The viability of late morulae and blastocysts produced by nuclear transplantation in cattle
-
Willadsen, S. M., R. E. Janzen, and R. J. McAlistre. 1991. The viability of late morulae and blastocysts produced by nuclear transplantation in cattle. Theriogenol 35:161-170.
-
(1991)
Theriogenol
, vol.35
, pp. 161-170
-
-
Willadsen, S.M.1
Janzen, R.E.2
McAlistre, R.J.3
-
11
-
-
0000630603
-
The production of unusually large offspring following embryo manipulation: Concepts and challenges
-
Walker, S. K., K. M. Hartwich, and R. F. Seamark. 1996. The production of unusually large offspring following embryo manipulation: Concepts and challenges. Theriogenol 45:111-120.
-
(1996)
Theriogenol
, vol.45
, pp. 111-120
-
-
Walker, S.K.1
Hartwich, K.M.2
Seamark, R.F.3
-
12
-
-
0035134738
-
Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture
-
Young, L. E., K. Fernandes, T. G. McEvoy et al. 2001. Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 27(2):153-154.
-
(2001)
Nat Genet
, vol.27
, Issue.2
, pp. 153-154
-
-
Young, L.E.1
Fernandes, K.2
McEvoy, T.G.3
-
13
-
-
0034112603
-
Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo
-
Doherty, A. S., M. R. Mann, K. D. Tremblay et al. 2000. Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol Reprod 62(6):1526-1535.
-
(2000)
Biol Reprod
, vol.62
, Issue.6
, pp. 1526-1535
-
-
Doherty, A.S.1
Mann, M.R.2
Tremblay, K.D.3
-
14
-
-
0037222510
-
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
-
DeBaun, M. R., E. L. Niemitz, and A. P. Feinberg. 2003. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 72(1):156-160.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.1
, pp. 156-160
-
-
DeBaun, M.R.1
Niemitz, E.L.2
Feinberg, A.P.3
-
15
-
-
0037238396
-
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
-
Maher, E. R., L. A. Brueton, S. C. Bowdin et al. 2003. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 40(1):62-64.
-
(2003)
J Med Genet
, vol.40
, Issue.1
, pp. 62-64
-
-
Maher, E.R.1
Brueton, L.A.2
Bowdin, S.C.3
-
16
-
-
1842435262
-
Epigenetics and assisted reproductive technology: A call for investigation
-
Niemitz, E. L. and A. P. Feinberg. 2004. Epigenetics and assisted reproductive technology: A call for investigation. Am J Hum Genet 74(4):599-609.
-
(2004)
Am J Hum Genet
, vol.74
, Issue.4
, pp. 599-609
-
-
Niemitz, E.L.1
Feinberg, A.P.2
-
17
-
-
0000927260
-
Ein syndrome von adipositas, kleinwuchs, kryptorchismus and oligophrenie nach myatonieartigem zustand im neugeborenenalter
-
Prader, A., A. Labhart, and H. Willi. 1956. Ein syndrome von adipositas, kleinwuchs, kryptorchismus and oligophrenie nach myatonieartigem zustand im neugeborenenalter. Schweizerische Medzinische Wochenschrift 86:1260-1261.
-
(1956)
Schweizerische Medzinische Wochenschrift
, vol.86
, pp. 1260-1261
-
-
Prader, A.1
Labhart, A.2
Willi, H.3
-
18
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cause and diagnosis
-
Butler, M. G. 1990. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35(3):319-332.
-
(1990)
Am J Med Genet
, vol.35
, Issue.3
, pp. 319-332
-
-
Butler, M.G.1
-
20
-
-
0033852316
-
Prader-Willi syndrome: Clinical and genetic finding
-
Butler, M. G. and T. Thompson. 2000. Prader-Willi syndrome: Clinical and genetic finding. The Endocrinol 10:3S-16S.
-
(2000)
The Endocrinol
, vol.10
, pp. 3S-16S
-
-
Butler, M.G.1
Thompson, T.2
-
22
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
-
Ledbetter, D. H., V. M. Riccardi, S. D. Airhart et al. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304(6):325-329.
-
(1981)
N Engl J Med
, vol.304
, Issue.6
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
-
23
-
-
0021094659
-
Parental origin of chromosome 15 deletion in Prader-Willi syndrome
-
Butler, M. G. and C. G. Palmer. 1983. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1(8336):1285-1286.
-
(1983)
Lancet
, vol.1
, Issue.8336
, pp. 1285-1286
-
-
Butler, M.G.1
Palmer, C.G.2
-
24
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
-
Nicholls, R. D., J. H. Knoll, M. G. Butler et al. 1989. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342(6247):281-285.
-
(1989)
Nature
, vol.342
, Issue.6247
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.2
Butler, M.G.3
-
25
-
-
0026629938
-
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
-
Cassidy, S. B., L. W. Lai, R. P. Erickson et al. 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(4):701-708.
-
(1992)
Am J Hum Genet
, vol.51
, Issue.4
, pp. 701-708
-
-
Cassidy, S.B.1
Lai, L.W.2
Erickson, R.P.3
-
26
-
-
15844378207
-
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism
-
Christian, S. L., A. C. Smith, M. Macha et al. 1996. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn 16(4):323-332.
-
(1996)
Prenat Diagn
, vol.16
, Issue.4
, pp. 323-332
-
-
Christian, S.L.1
Smith, A.C.2
Macha, M.3
-
27
-
-
72349083558
-
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
-
Butler, M. G., J. Sturich, S. E. Myers et al. 2009. Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet 26(8):461-466.
-
(2009)
J Assist Reprod Genet
, vol.26
, Issue.8
, pp. 461-466
-
-
Butler, M.G.1
Sturich, J.2
Myers, S.E.3
-
28
-
-
0031458796
-
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism
-
Lau, A. W., C. J. Brown, M. Penaherrera et al. 1997. Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet 61(6):1353-1361.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.6
, pp. 1353-1361
-
-
Lau, A.W.1
Brown, C.J.2
Penaherrera, M.3
-
29
-
-
33847344627
-
X-chromosome inactivation patterns in females with Prader-Willi syndrome
-
Butler, M. G., M. F. Theodoro, D. C. Bittel et al. 2007. X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet A 143(5):469-475.
-
(2007)
Am J Med Genet A
, vol.143
, Issue.5
, pp. 469-475
-
-
Butler, M.G.1
Theodoro, M.F.2
Bittel, D.C.3
-
30
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls, R. D. and J. L. Knepper. 2001. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2:153-175.
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
31
-
-
31044455614
-
Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology
-
Bittel, D. C. and M. G. Butler. 2005. Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 7(14):1-20.
-
(2005)
Expert Rev Mol Med
, vol.7
, Issue.14
, pp. 1-20
-
-
Bittel, D.C.1
Butler, M.G.2
-
32
-
-
41849099288
-
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome
-
Butler, M. G., W. Fischer, N. Kibiryeva, and D. C. Bittel. 2008. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A 146(7):854-860.
-
(2008)
Am J Med Genet A
, vol.146
, Issue.7
, pp. 854-860
-
-
Butler, M.G.1
Fischer, W.2
Kibiryeva, N.3
Bittel, D.C.4
-
33
-
-
80054848222
-
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay
-
Burnside, R. D., R. Pasion, F. M. Mikhail et al. 2011. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 130(4):517-528.
-
(2011)
Hum Genet
, vol.130
, Issue.4
, pp. 517-528
-
-
Burnside, R.D.1
Pasion, R.2
Mikhail, F.M.3
-
34
-
-
1442323876
-
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
-
Butler, M. G., D. C. Bittel, N. Kibiryeva et al. 2004. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 113(3 Pt 1), 565-573.
-
(2004)
Pediatrics
, vol.113
, Issue.3
, pp. 565-573
-
-
Butler, M.G.1
Bittel, D.C.2
Kibiryeva, N.3
-
35
-
-
58049209787
-
Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development
-
Miller, N. L., R. Wevrick, and P. L. Mellon. 2009. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Hum Mol Genet 18(2):248-260.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.2
, pp. 248-260
-
-
Miller, N.L.1
Wevrick, R.2
Mellon, P.L.3
-
36
-
-
34748925845
-
The imprinted gene Magel2 regulates normal circadian output
-
Kozlov, S. V., J. W. Bogenpohl, M. P. Howell et al. 2007. The imprinted gene Magel2 regulates normal circadian output. Nat Genet 39(10):1266-1272.
-
(2007)
Nat Genet
, vol.39
, Issue.10
, pp. 1266-1272
-
-
Kozlov, S.V.1
Bogenpohl, J.W.2
Howell, M.P.3
-
37
-
-
0034657440
-
The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system
-
Gray, T. A., L. Hernandez, A. H. Carey et al. 2000. The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system. Genomics 66(1):76-86.
-
(2000)
Genomics
, vol.66
, Issue.1
, pp. 76-86
-
-
Gray, T.A.1
Hernandez, L.2
Carey, A.H.3
-
38
-
-
45849144806
-
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice
-
Ding, F., H. H. Li, S. Zhang et al. 2008. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One 3(3):e1709.
-
(2008)
PLoS One
, vol.3
, Issue.3
-
-
Ding, F.1
Li, H.H.2
Zhang, S.3
-
39
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo, T., D. del Gaudio, J. R. German et al. 2008. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40(6):719-721.
-
(2008)
Nat Genet
, vol.40
, Issue.6
, pp. 719-721
-
-
Sahoo, T.1
del Gaudio, D.2
German, J.R.3
-
40
-
-
0042828957
-
Microarray analysis of gene/transcript expression in Prader-Willi syndrome: Deletion versus UPD
-
Bittel, D. C., N. Kibiryeva, Z. Talebizadeh, and M. G. Butler. 2003. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: Deletion versus UPD. J Med Genet 40(8):568-574.
-
(2003)
J Med Genet
, vol.40
, Issue.8
, pp. 568-574
-
-
Bittel, D.C.1
Kibiryeva, N.2
Talebizadeh, Z.3
Butler, M.G.4
-
41
-
-
0029907150
-
A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13
-
Butler, M. G., S. L. Christian, T. Kubota, and D. H. Ledbetter. 1996. A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. Am J Med Genet 65(2):137-141.
-
(1996)
Am J Med Genet
, vol.65
, Issue.2
, pp. 137-141
-
-
Butler, M.G.1
Christian, S.L.2
Kubota, T.3
Ledbetter, D.H.4
-
42
-
-
67349186905
-
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
-
Kanber, D., J. Giltay, D. Wieczorek et al. 2009. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet 17(5):582-590.
-
(2009)
Eur J Hum Genet
, vol.17
, Issue.5
, pp. 582-590
-
-
Kanber, D.1
Giltay, J.2
Wieczorek, D.3
-
43
-
-
68749097161
-
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
-
de Smith, A. J., C. Purmann, R. G. Walters et al. 2009. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18(17):3257-3265.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.17
, pp. 3257-3265
-
-
de Smith, A.J.1
Purmann, C.2
Walters, R.G.3
-
44
-
-
75449104621
-
An interstitial 15q11-q14 deletion: Expanded Prader-Willi syndrome phenotype
-
Butler, M. G., D. C. Bittel, N. Kibiryeva, L. D. Cooley, and S. Yu. 2010. An interstitial 15q11-q14 deletion: Expanded Prader-Willi syndrome phenotype. Am J Med Genet A 152A (2):404-408.
-
(2010)
Am J Med Genet A
, vol.152A
, Issue.2
, pp. 404-408
-
-
Butler, M.G.1
Bittel, D.C.2
Kibiryeva, N.3
Cooley, L.D.4
Yu, S.5
-
45
-
-
30844442607
-
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
-
Kishore, S. and S. Stamm. 2006. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311(5758):230-232.
-
(2006)
Science
, vol.311
, Issue.5758
, pp. 230-232
-
-
Kishore, S.1
Stamm, S.2
-
46
-
-
33750128290
-
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
-
Bittel, D. C., N. Kibiryeva, and M. G. Butler. 2006. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics 118(4):e1276-e1283.
-
(2006)
Pediatrics
, vol.118
, Issue.4
, pp. e1276-e1283
-
-
Bittel, D.C.1
Kibiryeva, N.2
Butler, M.G.3
-
47
-
-
0000821313
-
Pseudo-hypoparathyroidism-an example “Seabright-Bantam syndrome”: Report of three cases
-
Albright, F., C. H. Burnett, P. H. Smith, and W. Parson. 1942. Pseudo-hypoparathyroidism-an example “Seabright-Bantam syndrome”: Report of three cases. Endocrinology 30:922-932.
-
(1942)
Endocrinology
, vol.30
, pp. 922-932
-
-
Albright, F.1
Burnett, C.H.2
Smith, P.H.3
Parson, W.4
-
48
-
-
0034332583
-
Clinical spectrum and pathogenesis of pseudohypoparathyroidism
-
Levine, M. A. 2000. Clinical spectrum and pathogenesis of pseudohypoparathyroidism. Rev Endocr Metab Disord 1(4):265-274.
-
(2000)
Rev Endocr Metab Disord
, vol.1
, Issue.4
, pp. 265-274
-
-
Levine, M.A.1
-
50
-
-
42449155119
-
The GNAS locus and pseudohypoparathyroidism
-
Bastepe, M. 2008. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 626:27-40.
-
(2008)
Adv Exp Med Biol
, vol.626
, pp. 27-40
-
-
Bastepe, M.1
-
51
-
-
85152855686
-
-
Available from, accessed on September 29, 2010
-
GNAS complex locus. 2010. Available fromwww.ncbl/nlm.nih.gov/OMIM (accessed on September 29, 2010).
-
(2010)
-
-
-
52
-
-
0025819444
-
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
-
Wang, J. C., M. B. Passage, P. H. Yen, L. J. Shapiro, and T. K. Mohandas. 1991. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 48(6):1069-1074.
-
(1991)
Am J Hum Genet
, vol.48
, Issue.6
, pp. 1069-1074
-
-
Wang, J.C.1
Passage, M.B.2
Yen, P.H.3
Shapiro, L.J.4
Mohandas, T.K.5
-
53
-
-
0025866731
-
Maternal uniparental disomy for chromosome 14
-
Temple, I. K., A. Cockwell, T. Hassold, D. Pettay, and P. Jacobs. 1991. Maternal uniparental disomy for chromosome 14. J Med Genet 28(8):511-514.
-
(1991)
J Med Genet
, vol.28
, Issue.8
, pp. 511-514
-
-
Temple, I.K.1
Cockwell, A.2
Hassold, T.3
Pettay, D.4
Jacobs, P.5
-
54
-
-
54949115836
-
Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14
-
Ogata, T., M. Kagami, and A. C. Ferguson-Smith. 2008. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14. Epigenetics 3(4):181-187.
-
(2008)
Epigenetics
, vol.3
, Issue.4
, pp. 181-187
-
-
Ogata, T.1
Kagami, M.2
Ferguson-Smith, A.C.3
-
55
-
-
77954156503
-
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: Hierarchical interaction and distinct functional properties as imprinting control centers
-
Kagami, M., M. J. O’Sullivan, A. J. Green et al. 2010. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: Hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet 6(6):e1000992.
-
(2010)
PLoS Genet
, vol.6
, Issue.6
-
-
Kagami, M.1
O’Sullivan, M.J.2
Green, A.J.3
-
56
-
-
0033531969
-
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
-
Berends, M. J., R. Hordijk, H. Scheffer, J. C. Oosterwijk, D. J. Halley, and N. Sorgedrager. 1999. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet 84(1):76-79.
-
(1999)
Am J Med Genet
, vol.84
, Issue.1
, pp. 76-79
-
-
Berends, M.J.1
Hordijk, R.2
Scheffer, H.3
Oosterwijk, J.C.4
Halley, D.J.5
Sorgedrager, N.6
-
57
-
-
33749520007
-
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
-
Mitter, D., K. Buiting, F. von Eggeling et al. 2006. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A 140(19):2039-2049.
-
(2006)
Am J Med Genet A
, vol.140
, Issue.19
, pp. 2039-2049
-
-
Mitter, D.1
Buiting, K.2
von Eggeling, F.3
-
58
-
-
73949156905
-
Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype
-
Hosoki, K., M. Kagami, T. Tanaka et al. 2009. Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype. J Pediatr 155(6):900-903. e1.
-
(2009)
J Pediatr
, vol.155
, Issue.6
-
-
Hosoki, K.1
Kagami, M.2
Tanaka, T.3
-
59
-
-
0030893234
-
Paternal uniparental disomy for chromosome 14: A case report and review
-
Cotter, P. D., S. Kaffe, L. D. McCurdy, M. Jhaveri, J. P. Willner, and K. Hirschhorn. 1997. Paternal uniparental disomy for chromosome 14: A case report and review. Am J Med Genet 70(1):74-79.
-
(1997)
Am J Med Genet
, vol.70
, Issue.1
, pp. 74-79
-
-
Cotter, P.D.1
Kaffe, S.2
McCurdy, L.D.3
Jhaveri, M.4
Willner, J.P.5
Hirschhorn, K.6
-
60
-
-
77955284408
-
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14
-
Irving, M. D., K. Buiting, D. Kanber et al. 2010. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. Am J Med Genet A 152A (8):1942-1950.
-
(2010)
Am J Med Genet A
, vol.152A
, Issue.8
, pp. 1942-1950
-
-
Irving, M.D.1
Buiting, K.2
Kanber, D.3
-
61
-
-
38649135702
-
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
-
Kagami, M., Y. Sekita, G. Nishimura et al. 2008. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 40(2):237-242.
-
(2008)
Nat Genet
, vol.40
, Issue.2
, pp. 237-242
-
-
Kagami, M.1
Sekita, Y.2
Nishimura, G.3
-
62
-
-
0038384954
-
Epigenetic detection of human chromosome 14 uniparental disomy
-
Murphy, S. K., A. A. Wylie, K. J. Coveler et al. 2003. Epigenetic detection of human chromosome 14 uniparental disomy. Hum Mutat 22(1):92-97.
-
(2003)
Hum Mutat
, vol.22
, Issue.1
, pp. 92-97
-
-
Murphy, S.K.1
Wylie, A.A.2
Coveler, K.J.3
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