Silver-Russell syndrome in Hong Kong [PDF]
Hong Kong Medical Journal, 2016 To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong.This retrospective case series was conducted at two tertiary genetic clinics, the Clinical ...
Luk, HM +5 more
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Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment [PDF]
Clin Endocrinol (Oxf), 2022 Silver–Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long‐term outcomes of GH in patients with molecularly confirmed SRS.
O. Lokulo-Sodipe +12 more
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Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age [PDF]
Front Endocrinol (Lausanne), 2022 Context Data on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methods Retrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental disomy of ...
G. Patti +14 more
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Clinical spectrum of silver - Russell syndrome
Contemporary Clinical Dentistry, 2013 Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth ...
Sapna N.K. Varma, Balagopal R Varma
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Percutaneous endoscopic gastrostomy helped to normalise feeding problems and gastrointestinal symptoms in Silver‐Russell syndrome [PDF]
Acta PaediatrThis study evaluated feeding problems and gastrointestinal symptoms in children with Silver‐Russell syndrome (SRS), which is a rare epigenetic disorder.
Nataliia Muz +3 more
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Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome [PDF]
Int J Med SciBackground: Silver-Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by prenatal and postnatal growth failure. The aim of this study was to identify the epigenotype-phenotype correlations
Hsiang-Yu Lin +18 more
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PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion [PDF]
Scientific ReportsSilver-Russell syndrome (SRS, MIM#180860) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, feeding difficulties, and body asymmetry.
Alessandro Vimercati +11 more
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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome [PDF]
Front Pediatr, 2022 Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties in early childhood, characteristic facial features, and body asymmetry. The molecular cause most
Petra Loid +6 more
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Dysregulated H19/Igf2 expression disrupts cardiac-placental axis during development of Silver-Russell syndrome-like mouse models [PDF]
Elife, 2022 Dysregulation of the imprinted H19/IGF2 locus can lead to Silver-Russell Syndrome (SRS) in humans. However, the mechanism of how abnormal H19/IGF2 expression contributes to various SRS phenotypes remains unclear, largely due to incomplete understanding ...
Suhee Chang +10 more
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Silver-Russell Syndrome: A Case Report [PDF]
Cases Journal, 2008 A 15-year-old male boy with hemihypertrophy (left side) of the body was admitted in the hospital with the history of repeated attacks of convulsion. The patient was diagnosed as Silver-Russell syndrome on clinical ground. Silver-Russell syndrome (SRS) is a very rare genetic disorder that appears no later than early childhood.
Kumar, Sunil +3 more
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