Silver–Russell syndrome
Silver-Russell Syndrome With Unusual Findings
... The features in our patient which are consistent with Silver-Russell syndrome are intrauterine growth retardation, short stature, triangular facies, micrognathia, shark mouth, cafe au la[r] ...
6
IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome
... ICR1 hypomethylation was most severe in blood leu- kocytes, less severe in oral mucosa cells, and least severe in cultured skin fibroblasts. It is unlikely that the moder- ate ICR1 hypomethylation in fibroblasts was due ...
12
Broad Clinical Spectrum in Silver-Russell Syndrome and Consequences for Genetic Testing in Growth Retardation
... classical Silver-Russell syndrome pheno- type fulfilling the Silver-Russell syndrome-specific scores, genetic testing for the 11p15 epimutation and/or maternal uniparental disomy ...
5
Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome
... with Silver-Russell syndrome but again, molecular causes had not been identified in the majority of participants so it is likely that this sample included individuals with different molecular ...
30
IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome
... Silver-Russell syndrome (SRS) was first described in 1953 by Silver et al. [1]and in 1954 by Russell [2]. Ten percent of the cases are due to maternal chromosome 7 disomy (mUPD7) ...
7
Cdkn1c boosts the development of brown adipose tissue in a murine model of Silver Russell syndrome
... disorder Silver Russell Syndrome (SRS) has confounded researchers and clinicians for many years due to the myriad of genetic and epigenetic alterations reported in these patients and the lack of ...
26
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
... Silver-Russell syndrome (SRS) is a rare congenital dis- order characterized by pre- and postnatal growth failure and dysmorphic features [1]. The diagnosis of SRS is based on a combination of ...
10
Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
... Beckwith-Wiedemann syndrome; CTS: CTCF target site; ESC: Embryonic stem cell; GOM: Gain of methylation; H19/IGF2:IG-DMR H19/IGF2: Intergenic differentially methylated region; LOM: Loss of methylation; MLID: ...
5
Silver-Russell syndrome: genetic basis and molecular genetic testing
... Over the past 20 years it has become increasingly clear that genomic imprinting is of great relevance for human diseases. Imprinted genes with a parent-of-origin speci- fic expression are involved in various aspects of ...
8
Mosaic UPD(7q)mat in a patient with silver Russell syndrome
... Background: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic ...
7
Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation
... The expression of IGF2 in the SRShypo, SRSnormo, and Cnormo groups was below the detection limit of the quantitative real-time PCR (qRT-PCR) assay, whereas IGF2 expression of the control[r] ...
10
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
... Silver-Russel Syndrome (SRS, OMIM#180860) is a rare genetic imprinting disorder, initially described as an het- erogeneous phenotype including intrauterine (IUGR) and postnatal growth retardation (PNGR) ...
7
Genomic imprinting and Silver-Russell syndrome: Candidate genes on chromosome 7
... Expression of MEST in mUPD7 samples suggests that, despite the monoallelic expression seen in normal fibroblasts, some expression from the maternal allele must be[r] ...
244
The use of NPWT in combination with silver dressing in diabetic foot syndrome – case report
... of silver-containing dress- ing (Atrauman Ag - non-adherent, polyester tulle, impregnated with neutral triglycerides and silver ions, PAUL HARTMANN AG, Germany) and then the NPWT polyurethane foam (Vi- ...
5
A Russell Measure for Modeling Environmental Performance
... a Russell measure that incorporates both desirable and undesirable ...the Russell measure in the presence of undesirable outputs is denoted by ERM (Environmental Russell ...
10
The George Russell Collection at Colby College
... Also Dublin and London, Maunsel, 1917 (Second edition); Dublin and London, Maunsel, 1918 (Third edition). Also two inscribed proof copies of the first edition: one presented to Ernest Bo[r] ...
30
The economic impact of research conducted in Russell Group universities. Russell Group Papers Issue 1, 2010
... through Russell Group university Proof of Concept ...from Russell Group universities result from early stage, curiosity-driven research, and are at an embryonic stage of development at the time of ...
48
Russell, Bertrand Collection 1 pdf
... world a great deal of injustice, and so far as that goes that is a reason for supposing that justice does not rule in this world, and therefore so far as it goes it supports a moral argu[r] ...
47
REPORT OF THE TOWN OF RUSSELL TAX INCREMENT FINANCING (TIF) AGREEMENT FOR THE 50 MEGAWATT RUSSELL BIOMASS PROJECT
... summary, Russell had the lowest tax rate in the hilltowns 25 years ago when three paper companies were operating four mills, but Russell now has the highest tax rate with the loss of industrial tax revenues ...
19
Russell Global Indexes. Construction and Methodology
... For each base index, stocks are ranked by their adjusted B/P ratio; their I/B/E/S forecast medium-term growth (2-year), and their sales per share historical growth (5-year). These rankings are converted to standardized ...
82