-
1
-
-
42049087364
-
The genetic aetiology of Silver-Russell syndrome
-
Abu-Amero S., Monk D., Frost J., Preece M., Stanier P. and Moore G. E. 2008 The genetic aetiology of Silver-Russell syndrome. J. Med. Genet. 45, 193-199.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 193-199
-
-
Abu-Amero, S.1
Monk, D.2
Frost, J.3
Preece, M.4
Stanier, P.5
Moore, G.E.6
-
2
-
-
0024558350
-
Growth hormone secretion and growth hormone treatment in children with intrauterine growth retardation. Swedish paediatric study group for growth hormone treatment
-
Albertsson-Wikland K. 1989 Growth hormone secretion and growth hormone treatment in children with intrauterine growth retardation. Swedish paediatric study group for growth hormone treatment. Acta Paediatr. Scand. Suppl. 349, 35-41.
-
(1989)
Acta Paediatr. Scand. Suppl.
, vol.349
, pp. 35-41
-
-
Albertsson-Wikland, K.1
-
3
-
-
0031857504
-
Growth hormone treatment in growth hormone-sufficient and - insufficient children with intrauterine growth retardation/Russell-Silver syndrome
-
Azcona C., Albanese A., Bareille P. and Stanhope R. 1998 Growth hormone treatment in growth hormone-sufficient and - insufficient children with intrauterine growth retardation/Russell-Silver syndrome. Horm. Res. 50, 22-27.
-
(1998)
Horm. Res.
, vol.50
, pp. 22-27
-
-
Azcona, C.1
Albanese, A.2
Bareille, P.3
Stanhope, R.4
-
4
-
-
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., Haase M., Wollmann H. A., Ranke M. B. et al. 2006 IGF-II Serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the igf2 locus. J. Clin. Endocrinol. Metabol. 91, 4709-4712.
-
(2006)
J. Clin. Endocrinol. Metabol.
, vol.91
, pp. 4709-4712
-
-
Binder, G.1
Seidel, A.K.2
Weber, K.3
Haase, M.4
Wollmann, H.A.5
Ranke, M.B.6
-
5
-
-
42049122139
-
The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration
-
Binder G., Seidel A. K., Martin D. D., Schweizer R., Schwarze C. P., Wollmann H. A. et al. 2008 The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J. Clin. Endocrinol. Metab. 93, 1402-1407.
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 1402-1407
-
-
Binder, G.1
Seidel, A.K.2
Martin, D.D.3
Schweizer, R.4
Schwarze, C.P.5
Wollmann, H.A.6
-
6
-
-
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., Maas S., Hamel B., Salieb-Beugelaar G. et al. 2006 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. 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
Maas, S.4
Hamel, B.5
Salieb-Beugelaar, G.6
-
7
-
-
0029085354
-
Spontaneous growth hormone profiles in prepubertal small for gestational age children with short stature and intrauterine growth retardation
-
Boguszewski M., Rosberg S. and Albertsson-Wikland K. 1995 Spontaneous growth hormone profiles in prepubertal small for gestational age children with short stature and intrauterine growth retardation. Horm. Res. 80, 2599-2606.
-
(1995)
Horm. Res.
, vol.80
, pp. 2599-2606
-
-
Boguszewski, M.1
Rosberg, S.2
Albertsson-Wikland, K.3
-
8
-
-
0022627461
-
Russell-Silver syndrome and hypopituitarism. Patient report and literature review
-
Cassidy S. B., Blonder O., Courtney V. W., Ratzan S. K. and Carey D. E. 1986 Russell-Silver syndrome and hypopituitarism. Patient report and literature review. Am. J. Dis. Child. 140, 155-159.
-
(1986)
Am. J. Dis. Child.
, vol.140
, pp. 155-159
-
-
Cassidy, S.B.1
Blonder, O.2
Courtney, V.W.3
Ratzan, S.K.4
Carey, D.E.5
-
9
-
-
0027434942
-
Auxology and response to growth hormone treatment of patients with intrauterine growth retardation or Silver-Russell syndrome: Analysis of data from the Kabi pharmacia international growth study. International board of the Kabi pharmacia international growth study
-
Chatelain P. G. 1993 Auxology and response to growth hormone treatment of patients with intrauterine growth retardation or Silver-Russell syndrome: analysis of data from the Kabi pharmacia international growth study. International board of the Kabi pharmacia international growth study. Acta Paediatr. Suppl. 82,(suppl. 391) 79-81.
-
(1993)
Acta Paediatr. Suppl.
, vol.82
, Issue.SUPPL. 391
, pp. 79-81
-
-
Chatelain, P.G.1
-
11
-
-
11144290688
-
Bilateral reactive lymphoid hyperplasia of the orbit in a child with Russell-Silver syndrome
-
Dang Y. N., Shin I. C., Gordon R. A. and Karcioglu Z. A. 2004 Bilateral reactive lymphoid hyperplasia of the orbit in a child with Russell-Silver syndrome. J. AAPOS8, 588-591.
-
(2004)
J. AAPOS
, vol.8
, pp. 588-591
-
-
Dang, Y.N.1
Shin, I.C.2
Gordon, R.A.3
Karcioglu, Z.A.4
-
12
-
-
34548678450
-
Development of a WHO growth reference for school-aged children and adolescents
-
de Onis M., Onyango A. W., Borghi E., Siyam A., Nishida C. and Siekmann J. 2007 Development of a WHO growth reference for school-aged children and adolescents. Bull. W. H. O. 85, 660-667.
-
(2007)
Bull. W. H. O.
, vol.85
, pp. 660-667
-
-
de Onis, M.1
Onyango, A.W.2
Borghi, E.3
Siyam, A.4
Nishida, C.5
Siekmann, J.6
-
14
-
-
0031869209
-
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome
-
Eggermann T., Eggermann K., Mergenthaler S., Kuner R., Kaiser P., Ranke M. B. et al. 1998 Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J. Med. Genet. 35, 784-786.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 784-786
-
-
Eggermann, T.1
Eggermann, K.2
Mergenthaler, S.3
Kuner, R.4
Kaiser, P.5
Ranke, M.B.6
-
15
-
-
34248361206
-
Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely
-
Eggermann T., Schonherr N., Eggermann K. and Wollmann H. 2007 Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely. J. Med. Genet. 44, 77.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 77
-
-
Eggermann, T.1
Schonherr, N.2
Eggermann, K.3
Wollmann, H.4
-
16
-
-
41149121472
-
Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome
-
Eggermann T., Eggermann K. and Schönherr N. 2008 Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 24, 195-204.
-
(2008)
Trends Genet.
, vol.24
, pp. 195-204
-
-
Eggermann, T.1
Eggermann, K.2
Schönherr, N.3
-
17
-
-
0000040232
-
Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH research society
-
GH Research Society
-
GH Research Society 2000 Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH research society. J. Clin. Endocrinol. Metab. 85, 3990-3993.
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 3990-3993
-
-
-
18
-
-
25144454048
-
Epimutation of the telomeric imprinting centre region on chromosome 11p15 in Silver-Russell syndrome
-
Gicquel C., Rossignol S., Cabrol S., Houang M., Steunou V., Barbu V. et al. 2005 Epimutation of the telomeric imprinting centre region on chromosome 11p15 in Silver-Russell syndrome. Nat. Genet. 37, 1003-1007.
-
(2005)
Nat. Genet.
, vol.37
, pp. 1003-1007
-
-
Gicquel, C.1
Rossignol, S.2
Cabrol, S.3
Houang, M.4
Steunou, V.5
Barbu, V.6
-
19
-
-
0018040420
-
Microphallus, growth hormone deficiency, and hypoglycaemia in Russell-Silver syndrome
-
Hall J. G. 1978 Microphallus, growth hormone deficiency, and hypoglycaemia in Russell-Silver syndrome. Am. J. Dis. Child. 132, 1149.
-
(1978)
Am. J. Dis. Child.
, vol.132
, pp. 1149
-
-
Hall, J.G.1
-
20
-
-
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. 2001 Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J. Med. Genet. 38, 810-819.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 810-819
-
-
Hitchins, M.P.1
Stanier, P.2
Preece, M.A.3
Moore, G.E.4
-
21
-
-
0033940412
-
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
-
Monk D., Wakeling E. L., Proud V., Hitchins M., Abu-Amero S. N., Stanier P. et al. 2000 Duplication of 7p11. 2-p13, including GRB10, in Silver-Russell syndrome. Am. J. Hum. Genet. 66, 36-46.
-
(2000)
Am. J. Hum.Genet.
, vol.66
, pp. 36-46
-
-
Monk, D.1
Wakeling, E.L.2
Proud, V.3
Hitchins, M.4
Abu-Amero, S.N.5
Stanier, P.6
-
22
-
-
34547764390
-
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: Clinical scoring system and epigeneticphenotypic correlations
-
Netchine I., Rossignol S., Dufourg M. N., Azzi S., Rousseau A., Perin L. et al. 2007 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigeneticphenotypic correlations. J. Clin. Endocr. Metab. 92, 3148-3154.
-
(2007)
J. Clin. Endocr. Metab.
, vol.92
, pp. 3148-3154
-
-
Netchine, I.1
Rossignol, S.2
Dufourg, M.N.3
Azzi, S.4
Rousseau, A.5
Perin, L.6
-
24
-
-
0018193009
-
Growth hormone deficiency in a patient with Silver-Russel syndrome
-
O'Brien J., Sadeghi-Nejad A. and Feingold M. 1978 Growth hormone deficiency in a patient with Silver-Russel syndrome. J. Pediatr. 93, 151-152.
-
(1978)
J. Pediatr.
, vol.93
, pp. 151-152
-
-
O'Brien, J.1
Sadeghi-Nejad, A.2
Feingold, M.3
-
25
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
-
Price S. M., Stanhope R., Garrett C., Preece M. A. and Trembath R. C. 1999 The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36, 837-842.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 837-842
-
-
Price, S.M.1
Stanhope, R.2
Garrett, C.3
Preece, M.A.4
Trembath, R.C.5
-
26
-
-
0029848387
-
Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand growth database (OZGROW)
-
Rakover Y., Dietsch S., Ambler G. R., Chock C., Thomsett M. and Cowell C. T. 1996 Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand growth database (OZGROW). Eur. J. Pediatr. 155, 851-857.
-
(1996)
Eur. J. Pediatr.
, vol.155
, pp. 851-857
-
-
Rakover, Y.1
Dietsch, S.2
Ambler, G.R.3
Chock, C.4
Thomsett, M.5
Cowell, C.T.6
-
27
-
-
0030499395
-
Growth hormone treatment of short children born small for gestational age or with Silver-Russel syndrome: Results from KIGS (Kabi international growth study), including the first report on final height
-
Ranke M. B. and Lindberg A. 1996 Growth hormone treatment of short children born small for gestational age or with Silver-Russel syndrome: results from KIGS (Kabi international growth study), including the first report on final height. Acta Paediatr. Suppl. 417, 18-26.
-
(1996)
Acta Paediatr. Suppl.
, vol.417
, pp. 18-26
-
-
Ranke, M.B.1
Lindberg, A.2
-
28
-
-
0024512628
-
Investigation of growth hormone secretion in patients with intrauterine growth retardation
-
Rochiccioli P., Tauber M., Moisan W. and Pienkowski C. 1989 Investigation of growth hormone secretion in patients with intrauterine growth retardation. Acta. Pediatr. Scand. Suppl. 349, 42-46.
-
(1989)
Acta. Pediatr. Scand. Suppl.
, vol.349
, pp. 42-46
-
-
Rochiccioli, P.1
Tauber, M.2
Moisan, W.3
Pienkowski, C.4
-
30
-
-
33846461696
-
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
-
Schonherr N., Meyer E., Roos A., Schmidt A., Wollmann H. A. and Eggermann T. 2007 The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J. Med. Genet. 44, 59-63.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 59-63
-
-
Schonherr, N.1
Meyer, E.2
Roos, A.3
Schmidt, A.4
Wollmann, H.A.5
Eggermann, T.6
-
32
-
-
0031717299
-
Growth hormone treatment of Russell-Silver syndrome
-
Stanhope R., Albanese A. and Azcona C. 1998 Growth hormone treatment of Russell-Silver syndrome. Horm. Res. 49, 37-40.
-
(1998)
Horm. Res.
, vol.49
, pp. 37-40
-
-
Stanhope, R.1
Albanese, A.2
Azcona, C.3
-
34
-
-
0035510088
-
Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer
-
Takai D., Gonzales F. A., Tsai Y. C., Thayer M. J. and Jones P. A. 2001 Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer. Hum. Mol. Genet. 10, 2619-2626.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2619-2626
-
-
Takai, D.1
Gonzales, F.A.2
Tsai, Y.C.3
Thayer, M.J.4
Jones, P.A.5
-
35
-
-
0014497710
-
Low birth weight dwarfism with asymmetry (Silver's syndrome): Treatment with human growth hormone
-
Tanner J. M. and Ham T. J. 1969 Low birth weight dwarfism with asymmetry (Silver's syndrome): treatment with human growth hormone. Arch. Dis. Child. 44, 231-243.
-
(1969)
Arch. Dis. Child.
, vol.44
, pp. 231-243
-
-
Tanner, J.M.1
Ham, T.J.2
-
36
-
-
0016804084
-
The natural history of the Silver-Russell syndrome: A longitudinal study of thirty-nine cases
-
Tanner J. M., Lejarraga H. and Cameron N. 1975 The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. Pediatr. Res. 9, 611-623.
-
(1975)
Pediatr. Res.
, vol.9
, pp. 611-623
-
-
Tanner, J.M.1
Lejarraga, H.2
Cameron, N.3
-
38
-
-
33747086270
-
WHO child growth standards based on length, height, weight and age
-
WHO Multicentre Growth Reference Study Group
-
WHO Multicentre Growth Reference Study Group 2006 WHO child growth standards based on length, height, weight and age. Acta Paediatr. Suppl. 450, 76-85.
-
(2006)
Acta Paediatr. Suppl.
, vol.450
, pp. 76-85
-
-
-
39
-
-
0242270859
-
Update of guidelines for the use of growth hormone in children: The Lawson Wilkins pediatric endocrinology society drug and therapeutics committee
-
Wilson A. T., Rose S. R., Cohen P., Rogol A. D., Backeljauw P., Brown R. et al. 2003 Update of guidelines for the use of growth hormone in children: The Lawson Wilkins pediatric endocrinology society drug and therapeutics committee. J. Pediatr. 143, 415-421.
-
(2003)
J. Pediatr.
, vol.143
, pp. 415-421
-
-
Wilson, A.T.1
Rose, S.R.2
Cohen, P.3
Rogol, A.D.4
Backeljauw, P.5
Brown, R.6
-
40
-
-
0028827636
-
Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients
-
Wollmann H. A., Kirchner T., Enders H., Preece M. A. and Ranke M. B. 1995 Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur. J. Pediatr. 154, 958-968.
-
(1995)
Eur. J. Pediatr.
, vol.154
, pp. 958-968
-
-
Wollmann, H.A.1
Kirchner, T.2
Enders, H.3
Preece, M.A.4
Ranke, M.B.5
-
41
-
-
52549106583
-
Molecular and clinical findings and their correlations in Silver-Russell syndrome: Implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas
-
Yamazawa K., Kagami M., Nagai T., Kondoh T., Onigata K., Maeyama K. et al. 2008 Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas. J. Mol. Med. 86, 1171-1181.
-
(2008)
J. Mol. Med.
, vol.86
, pp. 1171-1181
-
-
Yamazawa, K.1
Kagami, M.2
Nagai, T.3
Kondoh, T.4
Onigata, K.5
Maeyama, K.6
|