-
1
-
-
78651048074
-
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
-
Silver H.K., Kiyasu W., George J., et al. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12 (1953) 368-376
-
(1953)
Pediatrics
, vol.12
, pp. 368-376
-
-
Silver, H.K.1
Kiyasu, W.2
George, J.3
-
2
-
-
0000771975
-
A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)
-
Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proceedings of the Royal Society of Medicine 47 (1954) 1040-1044
-
(1954)
Proceedings of the Royal Society of Medicine
, vol.47
, pp. 1040-1044
-
-
Russell, A.1
-
3
-
-
0017799416
-
Phenotypic and genetic analysis of the Silver-Russell syndrome
-
Escobar V., Gleiser S., and Weaver D.D. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clinical Genetics 13 (1978) 278-288
-
(1978)
Clinical Genetics
, vol.13
, pp. 278-288
-
-
Escobar, V.1
Gleiser, S.2
Weaver, D.D.3
-
4
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
-
Price S.M., Stanhope R., Garrett C., et al. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. Journal of Medical Genetics 36 (1999) 837-842
-
(1999)
Journal of Medical Genetics
, vol.36
, pp. 837-842
-
-
Price, S.M.1
Stanhope, R.2
Garrett, C.3
-
7
-
-
34249279527
-
Stability and flexibility of epigenetic gene regulation in mammalian development
-
Reik W. Stability and flexibility of epigenetic gene regulation in mammalian development. Nature 447 (2007) 425-432
-
(2007)
Nature
, vol.447
, pp. 425-432
-
-
Reik, W.1
-
8
-
-
0035874481
-
The marks, mechanisms and memory of epigenetic states in mammals
-
Rakyan V.K., Preis J., Morgan H.D., et al. The marks, mechanisms and memory of epigenetic states in mammals. Biochemical Journal 356 (2001) 1-10
-
(2001)
Biochemical Journal
, vol.356
, pp. 1-10
-
-
Rakyan, V.K.1
Preis, J.2
Morgan, H.D.3
-
9
-
-
22844457491
-
DNA methylation and human disease
-
Robertson K.D. DNA methylation and human disease. Nature Reviews. Genetics 6 (2005) 597-610
-
(2005)
Nature Reviews. Genetics
, vol.6
, pp. 597-610
-
-
Robertson, K.D.1
-
10
-
-
0022540321
-
CpG-rich islands and the function of DNA methylation
-
Bird A.P. CpG-rich islands and the function of DNA methylation. Nature 321 (1986) 209-213
-
(1986)
Nature
, vol.321
, pp. 209-213
-
-
Bird, A.P.1
-
11
-
-
0037372003
-
Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals
-
Jaenisch R., and Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nature Genetics 33 Suppl. (2003) 245-254
-
(2003)
Nature Genetics
, vol.33
, Issue.SUPPL
, pp. 245-254
-
-
Jaenisch, R.1
Bird, A.2
-
12
-
-
22144436236
-
The role of the RNAi machinery in heterochromatin formation
-
Wassenegger M. The role of the RNAi machinery in heterochromatin formation. Cell 122 (2005) 13-16
-
(2005)
Cell
, vol.122
, pp. 13-16
-
-
Wassenegger, M.1
-
13
-
-
0021740225
-
Inability of mouse blastomere nuclei transferred to enucleated zygotes to support development in vitro
-
McGrath J., and Solter D. Inability of mouse blastomere nuclei transferred to enucleated zygotes to support development in vitro. Science 226 (1984) 1317-1319
-
(1984)
Science
, vol.226
, pp. 1317-1319
-
-
McGrath, J.1
Solter, D.2
-
14
-
-
0021237658
-
Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis
-
Surani M.A., Barton S.C., and Norris M.L. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 308 (1984) 548-550
-
(1984)
Nature
, vol.308
, pp. 548-550
-
-
Surani, M.A.1
Barton, S.C.2
Norris, M.L.3
-
15
-
-
0022391691
-
Differential activity of maternally and paternally derived chromosome regions in mice
-
Cattanach B.M., and Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315 (1985) 496-498
-
(1985)
Nature
, vol.315
, pp. 496-498
-
-
Cattanach, B.M.1
Kirk, M.2
-
17
-
-
0041353558
-
An ice pattern crystallizes
-
Spahn L., and Barlow D.P. An ice pattern crystallizes. Nature Genetics 35 (2003) 11-12
-
(2003)
Nature Genetics
, vol.35
, pp. 11-12
-
-
Spahn, L.1
Barlow, D.P.2
-
18
-
-
0037389185
-
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development
-
Weksberg R., Smith A.C., Squire J., et al. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Human Molecular Genetics 12 (2003) R61-R68
-
(2003)
Human Molecular Genetics
, vol.12
-
-
Weksberg, R.1
Smith, A.C.2
Squire, J.3
-
19
-
-
0035234557
-
Genomic imprinting: parental influence on the genome
-
Reik W., and Walter J. Genomic imprinting: parental influence on the genome. Nature Reviews. Genetics 2 (2001) 21-32
-
(2001)
Nature Reviews. Genetics
, vol.2
, pp. 21-32
-
-
Reik, W.1
Walter, J.2
-
20
-
-
0036831864
-
Regional loss of imprinting and growth deficiency in mice with a targeted deletion of kvDMR1
-
Fitzpatrick G.V., Soloway P.D., and Higgins M.J. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of kvDMR1. Nature Genetics 32 (2002) 426-431
-
(2002)
Nature Genetics
, vol.32
, pp. 426-431
-
-
Fitzpatrick, G.V.1
Soloway, P.D.2
Higgins, M.J.3
-
21
-
-
0027236694
-
The ontogeny of allele-specific methylation associated with imprinted genes in the mouse
-
Brandeis M., Kafri T., Ariel M., et al. The ontogeny of allele-specific methylation associated with imprinted genes in the mouse. The EMBO Journal 12 (1993) 3669-3677
-
(1993)
The EMBO Journal
, vol.12
, pp. 3669-3677
-
-
Brandeis, M.1
Kafri, T.2
Ariel, M.3
-
22
-
-
1942421683
-
Gene-specific timing and epigenetic memory in oocyte imprinting
-
Lucifero D., Mann M.R., Bartolomei M.S., et al. Gene-specific timing and epigenetic memory in oocyte imprinting. Human Molecular Genetics 13 (2004) 839-849
-
(2004)
Human Molecular Genetics
, vol.13
, pp. 839-849
-
-
Lucifero, D.1
Mann, M.R.2
Bartolomei, M.S.3
-
24
-
-
0033753779
-
The DNA methyltransferases of mammals
-
Bestor T.H. The DNA methyltransferases of mammals. Human Molecular Genetics 9 (2000) 2395-2402
-
(2000)
Human Molecular Genetics
, vol.9
, pp. 2395-2402
-
-
Bestor, T.H.1
-
25
-
-
0037076432
-
Boris, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with ctcf, the insulator protein involved in reading imprinting marks in the soma
-
Loukinov D.I., Pugacheva E., Vatolin S., et al. Boris, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with ctcf, the insulator protein involved in reading imprinting marks in the soma. Proceedings of the National Academy of Sciences of the United States of America 99 (2002) 6806-6811
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, pp. 6806-6811
-
-
Loukinov, D.I.1
Pugacheva, E.2
Vatolin, S.3
-
26
-
-
33845885282
-
Pgc7/stella protects against DNA demethylation in early embryogenesis
-
Nakamura T., Arai Y., Umehara H., et al. Pgc7/stella protects against DNA demethylation in early embryogenesis. Nature Cell Biology 9 (2007) 64-71
-
(2007)
Nature Cell Biology
, vol.9
, pp. 64-71
-
-
Nakamura, T.1
Arai, Y.2
Umehara, H.3
-
28
-
-
0034098812
-
Mechanisms leading to uniparental disomy and their clinical consequences
-
Robinson W.P. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays 22 (2000) 452-459
-
(2000)
BioEssays
, vol.22
, pp. 452-459
-
-
Robinson, W.P.1
-
30
-
-
0032721557
-
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia
-
Spiro R.P., Christian S.L., Ledbetter D.H., et al. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Pediatric Research 46 (1999) 510-513
-
(1999)
Pediatric Research
, vol.46
, pp. 510-513
-
-
Spiro, R.P.1
Christian, S.L.2
Ledbetter, D.H.3
-
31
-
-
22144446038
-
Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated
-
Kotzot D., and Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. American Journal of Medical Genetics. Part A 136 (2005) 287-305
-
(2005)
American Journal of Medical Genetics. Part A
, vol.136
, pp. 287-305
-
-
Kotzot, D.1
Utermann, G.2
-
32
-
-
0036820514
-
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region
-
Monk D., Bentley L., Hitchins M., et al. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Human Genetics 111 (2002) 376-387
-
(2002)
Human Genetics
, vol.111
, pp. 376-387
-
-
Monk, D.1
Bentley, L.2
Hitchins, M.3
-
33
-
-
0028273980
-
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features
-
Schinzel A.A., Robinson W.P., Binkert F., et al. An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Clinical Dysmorphology 3 (1994) 63-69
-
(1994)
Clinical Dysmorphology
, vol.3
, pp. 63-69
-
-
Schinzel, A.A.1
Robinson, W.P.2
Binkert, F.3
-
34
-
-
0036765999
-
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
-
Fisher A.M., Thomas N.S., Cockwell A., et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Human Genetics 111 (2002) 290-296
-
(2002)
Human Genetics
, vol.111
, pp. 290-296
-
-
Fisher, A.M.1
Thomas, N.S.2
Cockwell, A.3
-
35
-
-
30644459349
-
Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
-
Eggermann T., Meyer E., Obermann C., et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?. Journal of Medical Genetics 42 (2005) e26
-
(2005)
Journal of Medical Genetics
, vol.42
-
-
Eggermann, T.1
Meyer, E.2
Obermann, C.3
-
37
-
-
0027522656
-
Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome
-
Tamura T., Tohma T., Ohta T., et al. Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clinical Dysmorphology 2 (1993) 106-113
-
(1993)
Clinical Dysmorphology
, vol.2
, pp. 106-113
-
-
Tamura, T.1
Tohma, T.2
Ohta, T.3
-
39
-
-
0026557357
-
Severe Silver-Russell syndrome and translocation (17; 20) (q25; q13)
-
Ramirez-Duenas M.L., Medina C., Ocampo-Campos R., et al. Severe Silver-Russell syndrome and translocation (17; 20) (q25; q13). Clinical Genetics 41 (1992) 51-53
-
(1992)
Clinical Genetics
, vol.41
, pp. 51-53
-
-
Ramirez-Duenas, M.L.1
Medina, C.2
Ocampo-Campos, R.3
-
40
-
-
0035862554
-
Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24
-
Dorr S., Midro A.T., Farber C., et al. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24. Genomics 71 (2001) 174-181
-
(2001)
Genomics
, vol.71
, pp. 174-181
-
-
Dorr, S.1
Midro, A.T.2
Farber, C.3
-
41
-
-
0031869209
-
Paternally inherited deletion of csh1 in a patient with Silver-Russell syndrome
-
Eggermann T., Eggermann K., Mergenthaler S., et al. Paternally inherited deletion of csh1 in a patient with Silver-Russell syndrome. Journal of Medical Genetics 35 (1998) 784-786
-
(1998)
Journal of Medical Genetics
, vol.35
, pp. 784-786
-
-
Eggermann, T.1
Eggermann, K.2
Mergenthaler, S.3
-
46
-
-
0030930299
-
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy
-
Eggermann T., Wollmann H.A., Kuner R., et al. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Human Genetics 100 (1997) 415-419
-
(1997)
Human Genetics
, vol.100
, pp. 415-419
-
-
Eggermann, T.1
Wollmann, H.A.2
Kuner, R.3
-
47
-
-
0034113750
-
Maternal uniparental disomy 7: review and further delineation of the phenotype
-
Kotzot D., Balmer D., Baumer A., et al. Maternal uniparental disomy 7: review and further delineation of the phenotype. European Journal of Pediatrics 159 (2000) 247-256
-
(2000)
European Journal of Pediatrics
, vol.159
, pp. 247-256
-
-
Kotzot, D.1
Balmer, D.2
Baumer, A.3
-
48
-
-
0033042181
-
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mupd7 Silver-Russell syndrome probands
-
Preece M.A., Abu-Amero S.N., Ali Z., et al. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mupd7 Silver-Russell syndrome probands. Journal of Medical Genetics 36 (1999) 457-460
-
(1999)
Journal of Medical Genetics
, vol.36
, pp. 457-460
-
-
Preece, M.A.1
Abu-Amero, S.N.2
Ali, Z.3
-
49
-
-
0029852041
-
Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases
-
Kalousek D.K., Langlois S., Robinson W.P., et al. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. American Journal of Medical Genetics 65 (1996) 348-352
-
(1996)
American Journal of Medical Genetics
, vol.65
, pp. 348-352
-
-
Kalousek, D.K.1
Langlois, S.2
Robinson, W.P.3
-
50
-
-
0035662379
-
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions
-
Hitchins M.P., Stanier P., Preece M.A., and Moore G.E. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. Journal of Medical Genetics 38 (2001) 810-819
-
(2001)
Journal of Medical Genetics
, vol.38
, pp. 810-819
-
-
Hitchins, M.P.1
Stanier, P.2
Preece, M.A.3
Moore, G.E.4
-
51
-
-
0032846736
-
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
-
Joyce C.A., Sharp A., Walker J.M., et al. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Human Genetics 105 (1999) 273-280
-
(1999)
Human Genetics
, vol.105
, pp. 273-280
-
-
Joyce, C.A.1
Sharp, A.2
Walker, J.M.3
-
52
-
-
0033940412
-
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
-
Monk D., Wakeling E.L., Proud V., et al. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. American Journal of Human Genetics 66 (2000) 36-46
-
(2000)
American Journal of Human Genetics
, vol.66
, pp. 36-46
-
-
Monk, D.1
Wakeling, E.L.2
Proud, V.3
-
53
-
-
0035970744
-
The BPS domain of Grb10 inhibits the catalytic activity of the insulin and Igf1 receptors
-
Stein E.G., Gustafson T.A., and Hubbard S.R. The BPS domain of Grb10 inhibits the catalytic activity of the insulin and Igf1 receptors. FEBS Letters 493 (2001) 106-111
-
(2001)
FEBS Letters
, vol.493
, pp. 106-111
-
-
Stein, E.G.1
Gustafson, T.A.2
Hubbard, S.R.3
-
54
-
-
0032784061
-
Grb10, a positive, stimulatory signaling adapter in platelet-derived growth factor bb-, insulin-like growth factor I, and insulin-mediated mitogenesis
-
Wang J., Dai H., Yousaf N., et al. Grb10, a positive, stimulatory signaling adapter in platelet-derived growth factor bb-, insulin-like growth factor I, and insulin-mediated mitogenesis. Molecular and Cellular Biology 19 (1999) 6217-6228
-
(1999)
Molecular and Cellular Biology
, vol.19
, pp. 6217-6228
-
-
Wang, J.1
Dai, H.2
Yousaf, N.3
-
56
-
-
0038364061
-
Conserved methylation imprints in the human and mouse grb10 genes with divergent allelic expression suggests differential reading of the same mark
-
Arnaud P., Monk D., Hitchins M., et al. Conserved methylation imprints in the human and mouse grb10 genes with divergent allelic expression suggests differential reading of the same mark. Human Molecular Genetics 12 (2003) 1005-1019
-
(2003)
Human Molecular Genetics
, vol.12
, pp. 1005-1019
-
-
Arnaud, P.1
Monk, D.2
Hitchins, M.3
-
57
-
-
0042413487
-
No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases
-
Riegel M., Baumer A., and Schinzel A. No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases. Clinical Genetics 64 (2003) 252-254
-
(2003)
Clinical Genetics
, vol.64
, pp. 252-254
-
-
Riegel, M.1
Baumer, A.2
Schinzel, A.3
-
58
-
-
0035131431
-
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome
-
Hitchins M.P., Monk D., Bell G.M., et al. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. European Journal of Human Genetics 9 (2001) 82-90
-
(2001)
European Journal of Human Genetics
, vol.9
, pp. 82-90
-
-
Hitchins, M.P.1
Monk, D.2
Bell, G.M.3
-
59
-
-
0033854339
-
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
-
Yoshihashi H., Maeyama K., Kosaki R., et al. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. American Journal of Human Genetics 67 (2000) 476-482
-
(2000)
American Journal of Human Genetics
, vol.67
, pp. 476-482
-
-
Yoshihashi, H.1
Maeyama, K.2
Kosaki, R.3
-
60
-
-
0035168178
-
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
-
Hannula K., Lipsanen-Nyman M., Kontiokari T., et al. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. American Journal of Human Genetics 68 (2001) 247-253
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 247-253
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kontiokari, T.3
-
61
-
-
0031687985
-
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
-
Lefebvre L., Viville S., Barton S.C., et al. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nature Genetics 20 (1998) 163-169
-
(1998)
Nature Genetics
, vol.20
, pp. 163-169
-
-
Lefebvre, L.1
Viville, S.2
Barton, S.C.3
-
63
-
-
0035575838
-
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients
-
Kobayashi S., Uemura H., Kohda T., et al. No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. American Journal of Medical Genetics 104 (2001) 225-231
-
(2001)
American Journal of Medical Genetics
, vol.104
, pp. 225-231
-
-
Kobayashi, S.1
Uemura, H.2
Kohda, T.3
-
64
-
-
0037374845
-
The imprinted region on human chromosome 7q32 extends to the carboxypeptidase a gene cluster: an imprinted candidate for Silver-Russell syndrome
-
Bentley L., Nakabayashi K., Monk D., et al. The imprinted region on human chromosome 7q32 extends to the carboxypeptidase a gene cluster: an imprinted candidate for Silver-Russell syndrome. Journal of Medical Genetics 40 (2003) 249-256
-
(2003)
Journal of Medical Genetics
, vol.40
, pp. 249-256
-
-
Bentley, L.1
Nakabayashi, K.2
Monk, D.3
-
65
-
-
0035177664
-
Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome
-
Eggermann T., Mergenthaler S., Eggermann K., et al. Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome. Clinical Genetics 60 (2001) 395-396
-
(2001)
Clinical Genetics
, vol.60
, pp. 395-396
-
-
Eggermann, T.1
Mergenthaler, S.2
Eggermann, K.3
-
66
-
-
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., and Kere J. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. American Journal of Human Genetics 55 (1994) 747-752
-
(1994)
American Journal of Human Genetics
, vol.55
, pp. 747-752
-
-
Hoglund, P.1
Holmberg, C.2
de la Chapelle, A.3
Kere, J.4
-
67
-
-
0031778075
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
Pan Y., McCaskill C.D., Thompson K.H., et al. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. American Journal of Human Genetics 62 (1998) 1551-1555
-
(1998)
American Journal of Human Genetics
, vol.62
, pp. 1551-1555
-
-
Pan, Y.1
McCaskill, C.D.2
Thompson, K.H.3
-
69
-
-
0025320906
-
A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting
-
DeChiara T.M., Efstratiadis A., and Robertson E.J. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 345 (1990) 78-80
-
(1990)
Nature
, vol.345
, pp. 78-80
-
-
DeChiara, T.M.1
Efstratiadis, A.2
Robertson, E.J.3
-
70
-
-
0029024277
-
Disruption of imprinting caused by deletion of the h19 gene region in mice
-
Leighton P.A., Ingram R.S., Eggenschwiler J., et al. Disruption of imprinting caused by deletion of the h19 gene region in mice. Nature 375 (1995) 34-39
-
(1995)
Nature
, vol.375
, pp. 34-39
-
-
Leighton, P.A.1
Ingram, R.S.2
Eggenschwiler, J.3
-
71
-
-
0030735169
-
Transactivation of igf2 in a mouse model of Beckwith-Wiedemann syndrome
-
Sun F.L., Dean W.L., Kelsey G., et al. Transactivation of igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389 (1997) 809-815
-
(1997)
Nature
, vol.389
, pp. 809-815
-
-
Sun, F.L.1
Dean, W.L.2
Kelsey, G.3
-
72
-
-
0028862472
-
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain
-
Reik W., Brown K.W., Schneid H., et al. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Human Molecular Genetics 4 (1995) 2379-2385
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 2379-2385
-
-
Reik, W.1
Brown, K.W.2
Schneid, H.3
-
73
-
-
0027231511
-
Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome
-
Schneid H., Seurin D., Vazquez M.P., et al. Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. Journal of Medical Genetics 30 (1993) 353-362
-
(1993)
Journal of Medical Genetics
, vol.30
, pp. 353-362
-
-
Schneid, H.1
Seurin, D.2
Vazquez, M.P.3
-
74
-
-
0034967806
-
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
-
Gaston V., Le Bouc Y., Soupre V., et al. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. European Journal of Human Genetics 9 (2001) 409-418
-
(2001)
European Journal of Human Genetics
, vol.9
, pp. 409-418
-
-
Gaston, V.1
Le Bouc, Y.2
Soupre, V.3
-
75
-
-
3242698120
-
Searching for genomic variants in IGF2 and CKN1C in Silver-Russell syndrome patients
-
Obermann C., Meyer E., Prager S., et al. Searching for genomic variants in IGF2 and CKN1C in Silver-Russell syndrome patients. Molecular Genetics and Metabolism 82 (2004) 246-250
-
(2004)
Molecular Genetics and Metabolism
, vol.82
, pp. 246-250
-
-
Obermann, C.1
Meyer, E.2
Prager, S.3
-
76
-
-
15244347196
-
Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients
-
Meyer E., Eggermann T., and Wollmann H.A. Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients. Molecular Genetics and Metabolism 84 (2005) 376-377
-
(2005)
Molecular Genetics and Metabolism
, vol.84
, pp. 376-377
-
-
Meyer, E.1
Eggermann, T.2
Wollmann, H.A.3
-
77
-
-
25144454048
-
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
-
Gicquel C., Rossignol S., Cabrol S., et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nature Genetics 37 (2005) 1003-1007
-
(2005)
Nature Genetics
, vol.37
, pp. 1003-1007
-
-
Gicquel, C.1
Rossignol, S.2
Cabrol, S.3
-
78
-
-
0034713375
-
Methylation of a CTCF-dependent boundary controls imprinted expression of the igf2 gene
-
Bell A.C., and Felsenfeld G. Methylation of a CTCF-dependent boundary controls imprinted expression of the igf2 gene. Nature 405 (2000) 482-485
-
(2000)
Nature
, vol.405
, pp. 482-485
-
-
Bell, A.C.1
Felsenfeld, G.2
-
79
-
-
0034713275
-
CTCF mediates methylation-sensitive enhancer-blocking activity at the h19/igf2 locus
-
Hark A.T., Schoenherr C.J., Katz D.J., et al. CTCF mediates methylation-sensitive enhancer-blocking activity at the h19/igf2 locus. Nature 405 (2000) 486-489
-
(2000)
Nature
, vol.405
, pp. 486-489
-
-
Hark, A.T.1
Schoenherr, C.J.2
Katz, D.J.3
-
80
-
-
33645463808
-
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
-
Bliek J., Terhal P., van den Bogaard M.J., et al. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. American Journal of Human Genetics 78 (2006) 604-614
-
(2006)
American Journal of Human Genetics
, vol.78
, pp. 604-614
-
-
Bliek, J.1
Terhal, P.2
van den Bogaard, M.J.3
-
81
-
-
33745903915
-
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain
-
Eggermann T., Schonherr N., Meyer E., et al. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. Journal of Medical Genetics 43 (2006) 615-616
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 615-616
-
-
Eggermann, T.1
Schonherr, N.2
Meyer, E.3
-
82
-
-
33749259925
-
(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
-
Schonherr N., Meyer E., Eggermann K., et al. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?. European Journal of Medical genetics 49 (2006) 414-418
-
(2006)
European Journal of Medical genetics
, vol.49
, pp. 414-418
-
-
Schonherr, N.1
Meyer, E.2
Eggermann, K.3
-
83
-
-
33751532174
-
IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus
-
Binder G., Seidel A.K., Weber K., et al. IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. The Journal of Clinical Endocrinology and Metabolism 91 (2006) 4709-4712
-
(2006)
The Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 4709-4712
-
-
Binder, G.1
Seidel, A.K.2
Weber, K.3
-
84
-
-
34547764390
-
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations
-
Netchine I., Rossignol S., Dufourg M.N., et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. The Journal of Clinical Endocrinology and Metabolism 92 (2007) 3148-3154
-
(2007)
The Journal of Clinical Endocrinology and Metabolism
, vol.92
, pp. 3148-3154
-
-
Netchine, I.1
Rossignol, S.2
Dufourg, M.N.3
-
85
-
-
0014525649
-
Intrauterine growth of live-born caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation
-
Usher R., and McLean F. Intrauterine growth of live-born caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. The Journal of Pediatrics 74 (1969) 901-910
-
(1969)
The Journal of Pediatrics
, vol.74
, pp. 901-910
-
-
Usher, R.1
McLean, F.2
-
88
-
-
0036181136
-
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause
-
Hannula K., Lipsanen-Nyman M., Kristo P., et al. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 109 (2002) 441-448
-
(2002)
Pediatrics
, vol.109
, pp. 441-448
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kristo, P.3
-
89
-
-
0026750743
-
The liver-specific promoter of the human insulin-like growth factor II gene is activated by CAAT/enhancer binding protein (C/EBP)
-
Van Dijk M.A., Rodenburg R.J., Holthuizen P., et al. The liver-specific promoter of the human insulin-like growth factor II gene is activated by CAAT/enhancer binding protein (C/EBP). Nucleic Acids Research 20 (1992) 3099-3104
-
(1992)
Nucleic Acids Research
, vol.20
, pp. 3099-3104
-
-
Van Dijk, M.A.1
Rodenburg, R.J.2
Holthuizen, P.3
-
90
-
-
0027322519
-
IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome
-
Ohlsson R., Nystrom A., Pfeifer-Ohlsson S., et al. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Nature Genetics 4 (1993) 94-97
-
(1993)
Nature Genetics
, vol.4
, pp. 94-97
-
-
Ohlsson, R.1
Nystrom, A.2
Pfeifer-Ohlsson, S.3
-
91
-
-
0031557657
-
Promoter-dependent tissue-specific expressive nature of imprinting gene, insulin-like growth factor II, in human tissues
-
Wu H.K., Squire J.A., Song Q., and Weksberg R. Promoter-dependent tissue-specific expressive nature of imprinting gene, insulin-like growth factor II, in human tissues. Biochemical and Biophysical Research 233 (1997) 221-226
-
(1997)
Biochemical and Biophysical Research
, vol.233
, pp. 221-226
-
-
Wu, H.K.1
Squire, J.A.2
Song, Q.3
Weksberg, R.4
-
92
-
-
0027945263
-
Promoter-specific imprinting of the human insulin-like growth factor-II gene
-
Vu T.H., and Hoffman A.R. Promoter-specific imprinting of the human insulin-like growth factor-II gene. Nature 371 (1994) 714-717
-
(1994)
Nature
, vol.371
, pp. 714-717
-
-
Vu, T.H.1
Hoffman, A.R.2
-
93
-
-
33846461696
-
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
-
Schonherr N., Meyer E., Roos A., et al. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. Journal of Medical Genetics 44 (2007) 59-63
-
(2007)
Journal of Medical Genetics
, vol.44
, pp. 59-63
-
-
Schonherr, N.1
Meyer, E.2
Roos, A.3
-
94
-
-
18444407168
-
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
-
Weksberg R., Shuman C., Caluseriu O., et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Human Molecular Genetics 11 (2002) 1317-1325
-
(2002)
Human Molecular Genetics
, vol.11
, pp. 1317-1325
-
-
Weksberg, R.1
Shuman, C.2
Caluseriu, O.3
-
95
-
-
0038644577
-
In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene
-
Gicquel C., Gaston V., Mandelbaum J., et al. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. American Journal of Human Genetics 72 (2003) 1338-1341
-
(2003)
American Journal of Human Genetics
, vol.72
, pp. 1338-1341
-
-
Gicquel, C.1
Gaston, V.2
Mandelbaum, J.3
-
96
-
-
33846157180
-
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
-
Rossignol S., Steunou V., Chalas C., et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. Journal of Medical Genetics 43 (2006) 902-907
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 902-907
-
-
Rossignol, S.1
Steunou, V.2
Chalas, C.3
-
97
-
-
33746972820
-
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
-
Mackay D.J., Boonen S.E., Clayton-Smith J., et al. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics 120 (2006) 262-269
-
(2006)
Human Genetics
, vol.120
, pp. 262-269
-
-
Mackay, D.J.1
Boonen, S.E.2
Clayton-Smith, J.3
-
98
-
-
23844480131
-
Increased risk of Silver-Russell syndrome after in vitro fertilization?
-
Svensson J., Bjornstahl A., and Ivarsson S.A. Increased risk of Silver-Russell syndrome after in vitro fertilization?. Acta Paediatrica 94 (2005) 1163-1165
-
(2005)
Acta Paediatrica
, vol.94
, pp. 1163-1165
-
-
Svensson, J.1
Bjornstahl, A.2
Ivarsson, S.A.3
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