|1.||Fetal Growth Retardation (Intrauterine Growth Retardation)
|2.||Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
|4.||Turner Syndrome (Turner's Syndrome)
|5.||Prader-Willi Syndrome (Syndrome, Prader-Willi)
|1.||Eggermann, Thomas: 8 articles (07/2015 - 09/2002)|
|2.||Binder, Gerhard: 6 articles (07/2015 - 09/2002)|
|3.||Begemann, Matthias: 4 articles (07/2015 - 01/2010)|
|4.||Binder, G: 4 articles (10/2014 - 11/2006)|
|5.||Wollmann, Hartmut A: 4 articles (03/2008 - 09/2002)|
|6.||Ranke, Michael B: 3 articles (01/2010 - 09/2002)|
|7.||Ranke, M B: 3 articles (01/2008 - 09/2006)|
|8.||Eggermann, T: 3 articles (01/2008 - 09/2006)|
|9.||Schönherr, N: 3 articles (01/2008 - 09/2006)|
|10.||Wollmann, H A: 3 articles (01/2008 - 09/2006)|
|1.||Growth Hormone (Somatotropin)IBA
01/01/2010 - "The aim of this study was to determine the beneficial effects of long-term growth hormone (GH) treatment on final height (FH) in 26 children with Russell-Silver syndrome (RSS). "
09/01/1998 - "In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). "
10/01/1996 - "The response to growth hormone (GH) therapy was studied in children born small for gestational age (SGA; n = 593) and in those with Silver-Russell syndrome (SRS; n = 127) using data from KIGS (Kabi International Growth Study). "
10/01/1996 - "Growth hormone treatment of short children born small for gestational age or with Silver-Russell syndrome: results from KIGS (Kabi International Growth Study), including the first report on final height."
03/27/1995 - "We found significant differences in a craniometric, cephalometric, and dental study of 19 Silver-Russell syndrome patients (13 without growth hormone treatment) with appropriate controls. "
05/01/2006 - "Novel studies establish that imprinting at one of these, the IGF2-H19 domain, is epigenetically deregulated (with loss of DNA methylation) in Silver-Russell Syndrome (SRS), a congenital disease of growth retardation and asymmetry. "
10/01/2013 - "mUPD7 is the cause of approximately 5-10% of Silver-Russell syndrome (SRS), a disorder characterized by prenatal and postnatal growth retardation. "
01/01/2008 - "An opposite epimutation in the same region is associated with Silver-Russell syndrome (SRS), a growth retardation disorder characterised by a typical facial gestalt, clinodactyly V and asymmetry. "
09/01/2006 - "Recently, the opposite (epi)mutations of the same region have been reported to result in growth retardation: maternal duplications of 11p15 as well as hypomethylation of the telomeric 11p15 imprinting domain (ICR1) could be identified in patients with Silver-Russell syndrome (SRS), a disease which is in particular characterised by intrauterine and postnatal growth retardation. "
05/01/2004 - "This study examined cognitive development in Silver-Russell syndrome (SRS), a condition with intrauterine growth retardation, persisting short stature, and specific stigmata. "
|3.||IGF Type 1 Receptor (IGF 1 Receptor)IBA
07/01/1997 - "Previous studies have shown that individuals with a deletion of 15q26.1-->qter, which includes the insulin-like growth factor I receptor (IGFIR) gene, may exhibit phenotypic characteristics similar to those individuals with Silver-Russell Syndrome (SRS). "
07/01/1997 - "Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families."
09/01/2002 - "Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome."
03/01/2002 - "Silver-Russell syndrome is thought to result from deletion of the distal long arm of chromosome 15 on which the IGF-I receptor (IGF-IR) gene is located. "
09/01/2002 - "Individuals with a deletion of 15q26.1-->qter which contains the insulin-like growth factor-I (IGF-I) receptor gene exhibit phenotypical similarities to patients with Silver-Russell syndrome (SRS) who represent a group of short children affected by pre- and postnatal growth failure and several dysmorphic features. "
|4.||Untranslated RNA (Noncoding RNA)IBA
|5.||Insulin-Like Growth Factor Binding ProteinsIBA
06/01/1999 - "In the present study we sought to identify genetic variation in genes for insulin-like growth factor binding proteins 1 and 3 (IGFBP1, IGFBP3) in 7p12-13 which through alteration of protein function or level of expression might contribute to the manifestation of Silver-Russell syndrome. "
|6.||Insulin-Like Growth Factor I (IGF-1)IBA
10/01/2014 - "IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation."
03/01/1994 - "[Low levels of somatomedin C and short stature in the Silver-Russell syndrome]."
10/01/2013 - "Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels."
01/01/2010 - "To evaluate, in children with Silver-Russell Syndrome, the response to the IGF-I and IGFBP-3 generation test and compare results to the growth response after 6 months of rhGH. "
01/01/2010 - "IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome."
|7.||DNA (Deoxyribonucleic Acid)IBA
06/15/2015 - "Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. "
04/01/2012 - "Almost half of the patients with Silver-Russell syndrome (SRS) are affected by DNA hypomethylation of the Imprinting Center Region 1 (ICR1) at the IGF2/H19 locus on 11p15. "
10/01/2011 - "Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome."
06/01/1999 - "Genomic DNA samples from 49 Silver-Russell syndrome (SRS) patients and from unaffected controls were investigated by single-strand conformation analysis. "
01/01/2012 - "Loss of methylation (LOM) at imprinting control region (ICR) 1 or LOM at ICR 2 on chromosome 11p15 in leucocyte DNA is commonly used to diagnose the imprinting disorders Silver Russell syndrome (SRS) characterized by growth restriction or Beckwith Wiedemann syndrome (BWS) characterized by overgrowth, respectively. "
12/01/2010 - "Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients."
04/01/1977 - "The growth and development of children with the Silver-Russell syndrome have been studied (Silver, 1964; Tanner et al., 1975). "
02/01/1977 - "Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. "
01/01/1989 - "Five out of six of the children with Silver-Russell syndrome and seven out of 10 of the children with non-Silver-Russell IUGR gained more than 2 cm in height during 1 year of treatment with GH at a dose of 0.1 IU/kg/day. "
|9.||trisomy mosaic Chromosome 7IBA
08/01/2014 - "We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m]. "
08/01/2014 - "Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum."
03/01/2012 - "Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome."
09/01/2005 - "In the same way, true prenatal trisomy 7 mosaicism usually results in a normal child except when trisomic cells persist after birth or when trisomy rescue leads to maternal uniparental disomy, which is responsible for 5.5-7% of patients with Silver-Russell syndrome (SRS). "
09/01/2005 - "Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome."
06/01/2013 - "Myoclonus-dystonia syndrome associated with Russell Silver syndrome."
10/01/2008 - "Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. To describe and investigate the combination of a typical myoclonus-dystonia syndrome and Silver-Russell syndrome. "
10/01/2013 - "Tyrosine hydroxylase deficiency and Silver-Russell syndrome (uniparental disomy of chromosome 7) have been established as two novel causes of the myoclonus-dystonia syndrome. "
03/01/2008 - "Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome."
01/01/2008 - "Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome."
09/01/2013 - "Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wiedemann syndrome (BWS) and the Silver-Russell syndrome (SRS). "
07/01/1999 - "Distraction osteogenesis in Silver Russell syndrome to expand the mandible."
07/01/1999 - "In this report, a patient with Silver Russell syndrome and severe mandibular hypoplasia was treated by means of distraction osteogenesis of the midsymphysis to widen the mandible in concert with sagittal-ramus osteotomies to lengthen the mandible. "
|3.||Fat-Restricted Diet (Diet, Fat Restricted)