-
1
-
-
78651048074
-
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
-
Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953; 12:368-376
-
(1953)
Pediatrics
, vol.12
, pp. 368-376
-
-
Silver, H.K.1
Kiyasu, W.2
George, J.3
Deamer, W.C.4
-
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). Proc R Soc Med 1954; 47:1040-1044
-
(1954)
Proc R Soc Med
, vol.47
, pp. 1040-1044
-
-
Russell, A.1
-
3
-
-
0000078702
-
Low birth weight dwarfism
-
Black J. Low birth weight dwarfism. Arch Dis Child 1961; 36:633-644
-
(1961)
Arch Dis Child
, vol.36
, pp. 633-644
-
-
Black, J.1
-
4
-
-
0025320906
-
A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting
-
DeChiara TM, Efstratiadis A, Robertsen EJ. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 1990; 345:78-80
-
(1990)
Nature
, vol.345
, pp. 78-80
-
-
DeChiara, T.M.1
Efstratiadis, A.2
Robertsen, E.J.3
-
5
-
-
0025967857
-
Parental imprinting of the mouse insulin-like growth factor II gene
-
DeChiara TM, Robertson EJ, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991; 64:849-859
-
(1991)
Cell
, vol.64
, pp. 849-859
-
-
DeChiara, T.M.1
Robertson, E.J.2
Efstratiadis, A.3
-
6
-
-
84892371264
-
Beckwith-Wiedemann and Russell-Silver Syndromes: From new molecular insights to the comprehension of imprinting regulation
-
Azzi S, Abi Habib W, Netchine I. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation. Curr Opin Endocrinol Diabetes Obes 2014; 21:30-38
-
(2014)
Curr Opin Endocrinol Diabetes Obes
, vol.21
, pp. 30-38
-
-
Azzi, S.1
Abi, H.W.2
Netchine, I.3
-
7
-
-
84957569426
-
Imprinting disorders: A group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
-
Eggermann T, Perez de Nanclares G, Maher ER, et al. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clin Epigenetics 2015; 7:123
-
(2015)
Clin Epigenetics
, vol.7
, pp. 123
-
-
Eggermann, T.1
De Nanclares, G.P.2
Maher, E.R.3
-
8
-
-
84900031922
-
Epigenetic regulation of the Igf2/H19 gene cluster
-
Nordin M, Bergman D, Halje M, et al. Epigenetic regulation of the Igf2/H19 gene cluster. Cell Prolif 2014; 47:189-199
-
(2014)
Cell Prolif
, vol.47
, pp. 189-199
-
-
Nordin, M.1
Bergman, D.2
Halje, M.3
-
9
-
-
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. J Clin Endocrinol Metab 2006; 91:4709-4712
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4709-4712
-
-
Binder, G.1
Seidel, A.-K.2
Weber, K.3
-
10
-
-
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. Nat Genet 2005; 37:1003-1007
-
(2005)
Nat Genet
, vol.37
, pp. 1003-1007
-
-
Gicquel, C.1
Rossignol, S.2
Cabrol, S.3
-
11
-
-
81255187962
-
Silver-Russell syndrome
-
Wakeling EL. Silver-Russell syndrome. Arch Dis Child 2011; 96:1156-1161
-
(2011)
Arch Dis Child
, vol.96
, pp. 1156-1161
-
-
Wakeling, E.L.1
-
12
-
-
84949982380
-
The frequency of methylation abnormalities among Estonian patients selected by clinical diagnostic scoring systems for Silver-Russell syndrome and Beckwith-Wiedemann syndrome
-
Vals M-A, Yakoreva M, Kahre T, et al. The frequency of methylation abnormalities among Estonian patients selected by clinical diagnostic scoring systems for Silver-Russell syndrome and Beckwith-Wiedemann syndrome. Genet Test Mol Biomarkers 2015; 19:684-691
-
(2015)
Genet Test Mol Biomarkers
, vol.19
, pp. 684-691
-
-
Vals, M.-A.1
Yakoreva, M.2
Kahre, T.3
-
13
-
-
66049151670
-
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
-
Eggermann T, Gonzalez D, Spengler S, et al. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 2009; 123:e929-e931
-
(2009)
Pediatrics
, vol.123
, pp. e929-e931
-
-
Eggermann, T.1
Gonzalez, D.2
Spengler, S.3
-
14
-
-
84883197797
-
Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
-
Dias RP, Nightingale P, Hardy C, et al. Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. J Med Genet 2013; 50:635-639
-
(2013)
J Med Genet
, vol.50
, pp. 635-639
-
-
Dias, R.P.1
Nightingale, P.2
Hardy, C.3
-
15
-
-
42049122139
-
The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration
-
Binder G, Seidel A-K, Martin DD, et al. The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 2008; 93:1402-1407
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1402-1407
-
-
Binder, G.1
Seidel, A.-K.2
Martin, D.D.3
-
16
-
-
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. J Clin Endocrinol Metab 2007; 92:3148-3154
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3148-3154
-
-
Netchine, I.1
Rossignol, S.2
Dufourg, M.-N.3
-
17
-
-
84934766094
-
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
-
Azzi S, Salem J, Thibaud N, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 2015; 52:446-453
-
(2015)
J Med Genet
, vol.52
, pp. 446-453
-
-
Azzi, S.1
Salem, J.2
Thibaud, N.3
-
18
-
-
78149339689
-
Epigenotype-phenotype correlations in Silver-Russell syndrome
-
Wakeling EL, Amero SA, Alders M, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010; 47:760-768
-
(2010)
J Med Genet
, vol.47
, pp. 760-768
-
-
Wakeling, E.L.1
Amero, S.A.2
Alders, M.3
-
19
-
-
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. Am J Hum Genet 2006; 78:604-614
-
(2006)
Am J Hum Genet
, vol.78
, pp. 604-614
-
-
Bliek, J.1
Terhal, P.2
Van Den Bogaard, M.-J.3
-
20
-
-
84875302195
-
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
-
Fuke T, Mizuno S, Nagai T, et al. Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PloS One 2013; 8:e60105
-
(2013)
PloS One
, vol.8
, pp. e60105
-
-
Fuke, T.1
Mizuno, S.2
Nagai, T.3
-
21
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
Kotzot D, Schmitt S, Bernasconi F, et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995; 4:583-587
-
(1995)
Hum Mol Genet
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bernasconi, F.3
-
22
-
-
84870280917
-
Clinical significance of copy number variations in the 11p15 5 imprinting control regions: New cases and review of the literature
-
Begemann M, Spengler S, Gogiel M, et al. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet 2012; 49:547-553
-
(2012)
J Med Genet
, vol.49
, pp. 547-553
-
-
Begemann, M.1
Spengler, S.2
Gogiel, M.3
-
23
-
-
79955544035
-
Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation
-
Gronskov K, Poole RL, Hahnemann JM, et al. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. J Med Genet 2011; 48:308-311
-
(2011)
J Med Genet
, vol.48
, pp. 308-311
-
-
Gronskov, K.1
Poole, R.L.2
Hahnemann, J.M.3
-
24
-
-
84890244971
-
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
-
Brioude F, Oliver-Petit I, Blaise A, et al. CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. J Med Genet 2013; 50:823-830
-
(2013)
J Med Genet
, vol.50
, pp. 823-830
-
-
Brioude, F.1
Oliver-Petit, I.2
Blaise, A.3
-
25
-
-
84937875387
-
Paternally inherited IGF2 mutation and growth restriction
-
Begemann M, Zirn B, Santen G, et al. Paternally inherited IGF2 mutation and growth restriction. N Engl J Med 2015; 373:349-356
-
(2015)
N Engl J Med
, vol.373
, pp. 349-356
-
-
Begemann, M.1
Zirn, B.2
Santen, G.3
-
26
-
-
84937525560
-
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32 2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype
-
Kagami M, Mizuno S, Matsubara K, et al. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype. Eur J Hum Genet 2015; 23:1062-1067
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 1062-1067
-
-
Kagami, M.1
Mizuno, S.2
Matsubara, K.3
-
27
-
-
84905570348
-
Temple syndrome: Improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: An analysis of 51 published cases
-
Ioannides Y, Lokulo-Sodipe K, Mackay DJ, et al. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J Med Genet 2014; 51:495-501
-
(2014)
J Med Genet
, vol.51
, pp. 495-501
-
-
Ioannides, Y.1
Lokulo-Sodipe, K.2
Mackay, D.J.3
-
28
-
-
84966473561
-
EMQN best practice guidelines for genetic testing of chromosome 11p15 Imprinting Disorders: Silver-Russell and Beckwith-Wiedemann syndrome
-
(In press)
-
Eggermann K, Bliek J, Brioude F, et al. EMQN best practice guidelines for genetic testing of chromosome 11p15 Imprinting Disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet 2016; (In press)
-
(2016)
Eur J Hum Genet
-
-
Eggermann, K.1
Bliek, J.2
Brioude, F.3
-
29
-
-
84924984581
-
Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome
-
Marsaud C, Rossignol S, Tounian P, et al. Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. Arch Dis Child 2015; 100:353-358
-
(2015)
Arch Dis Child
, vol.100
, pp. 353-358
-
-
Marsaud, C.1
Rossignol, S.2
Tounian, P.3
-
30
-
-
0028827636
-
Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients
-
Wollmann HA, Kirchner T, Enders H, et al. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995; 154:958-968
-
(1995)
Eur J Pediatr
, vol.154
, pp. 958-968
-
-
Wollmann, H.A.1
Kirchner, T.2
Enders, H.3
-
31
-
-
23244452152
-
Time course of catch-up in adiposity influences adult anthropometry in individuals who were born small for gestational age
-
Ezzahir N, Alberti C, Deghmoun S, et al. Time course of catch-up in adiposity influences adult anthropometry in individuals who were born small for gestational age. Pediatr Res 2005; 58:243-247
-
(2005)
Pediatr Res
, vol.58
, pp. 243-247
-
-
Ezzahir, N.1
Alberti, C.2
Deghmoun, S.3
-
33
-
-
84956911380
-
Russel-Silver syndrome: A historical note and comment on an older adult
-
Searle C, Johnson D. Russel-Silver syndrome: a historical note and comment on an older adult. Am J Med Genet A 2016; 170:466-470
-
(2016)
Am J Med Genet A
, vol.170
, pp. 466-470
-
-
Searle, C.1
Johnson, D.2
-
34
-
-
77958050604
-
Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell Syndrome treated with growth hormone: Analysis of data from KIGS
-
Ranke MB, Lindberg A. Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell Syndrome treated with growth hormone: analysis of data from KIGS. Horm Res Paediatr 2010; 74:259-266
-
(2010)
Horm Res Paediatr
, vol.74
, pp. 259-266
-
-
Ranke, M.B.1
Lindberg, A.2
-
35
-
-
84969795583
-
Long-term results of GH treatment in Silver-Russell syndrome (SRS): Do they benefit the same as non-SRS short-SGA
-
[Epub ahead of print]. jc. 2015-4273
-
Smeets CCJ, Zandwijken GRJ, Renes JS, Hokken-Koelega ACS. Long-term results of GH treatment in Silver-Russell syndrome (SRS): do they benefit the same as non-SRS short-SGA? J Clin Endocrinol Metab 2016. [Epub ahead of print]. jc.2015-4273
-
(2016)
J Clin Endocrinol Metab
-
-
Smeets, C.C.J.1
Zandwijken, G.R.J.2
Renes, J.S.3
Hokken-Koelega, A.C.S.4
-
36
-
-
84885706382
-
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH
-
Binder G, Liebl M, Woelfle J, et al. Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. Horm Res Pædiatrics 2013; 80:193-200
-
(2013)
Horm Res Pædiatrics
, vol.80
, pp. 193-200
-
-
Binder, G.1
Liebl, M.2
Woelfle, J.3
-
37
-
-
84908054157
-
IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation
-
Iliev DI, Kannenberg K, Weber K, Binder G. IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation. Growth Horm IGF Res 2014; 24:187-191
-
(2014)
Growth Horm IGF Res
, vol.24
, pp. 187-191
-
-
Iliev, D.I.1
Kannenberg, K.2
Weber, K.3
Binder, G.4
-
38
-
-
33847343358
-
Two years of growth hormone therapy in young children with Prader-Willi syndrome: Physical and neurodevelopmental benefits
-
Myers SE, Whitman BY, Carrel AL, et al. Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A 2007; 143A:443-448
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 443-448
-
-
Myers, S.E.1
Whitman, B.Y.2
Carrel, A.L.3
-
39
-
-
84868611664
-
Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: Results of a randomized, dose-response GH trial
-
Lem AJ, van der Kaay DC, de Ridder MA, et al. Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: results of a randomized, dose-response GH trial. J Clin Endocrinol Metab 2012; 97:4096-4105
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. 4096-4105
-
-
Lem, A.J.1
Van Der Kaay, D.C.2
De Ridder, M.A.3
-
40
-
-
84943810125
-
Metabolic health in short children born small for gestational age treated with growth hormone and gonadotropin-releasing hormone analog: Results of a randomized, dose-response trial
-
van der Steen M, Lem AJ, van der Kaay DC, et al. Metabolic health in short children born small for gestational age treated with growth hormone and gonadotropin-releasing hormone analog: results of a randomized, dose-response trial. J Clin Endocrinol Metab 2015; 100:3725-3734
-
(2015)
J Clin Endocrinol Metab
, vol.100
, pp. 3725-3734
-
-
Van Der Steen, M.1
Lem, A.J.2
Van Der Kaay, D.C.3
-
41
-
-
84879602154
-
Myoclonus-dystonia syndrome associated with Russell Silver syndrome
-
Augustine EF, Blackburn J, Pellegrino JE, et al. Myoclonus-dystonia syndrome associated with Russell Silver syndrome. Mov Disord 2013; 28:841-842
-
(2013)
Mov Disord
, vol.28
, pp. 841-842
-
-
Augustine, E.F.1
Blackburn, J.2
Pellegrino, J.E.3
-
42
-
-
0033158506
-
Distraction osteogenesis in Silver Russell syndrome to expand the mandible
-
Kisnisci RS, Fowel SD, Epker BN. Distraction osteogenesis in Silver Russell syndrome to expand the mandible. Am J Orthod Dentofac Orthop 1999; 116:25-30
-
(1999)
Am J Orthod Dentofac Orthop
, vol.116
, pp. 25-30
-
-
Kisnisci, R.S.1
Fowel, S.D.2
Epker, B.N.3
-
43
-
-
84945538788
-
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counseling
-
Eggermann T, Brioude F, Russo S, et al. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. Eur J Hum Genet 2015. doi:10.1038/ejhg.2015.224
-
(2015)
Eur J Hum Genet
-
-
Eggermann, T.1
Brioude, F.2
Russo, S.3
|