Results 81 to 90 of about 10,203 (190)
Silver-russell syndrome: A case report
, 2012 Silver-Russell sendromu, intrauterin ve postnatal büyüme geriliği, relatif makrosefali, üçgen yüz, vücut asimetrisi ve el 5. parmakta klinodaktili özelliklerinin görüldüğü bir genetik hastalıktır.
Filiz Hazan +4 more
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The Case of Dilated Cardiomiopathy, the Girl of Three Years from the Silver-Rassel Syndrom
Медицинский вестник Юга России, 2012 Dilated cardiomyopathy is a serious disabling disease with unclear etiology. In some cases, its occurrence is associated with genetic mutations. In this context the case of dilated cardiomyopathy of the three years old girl from the Silver-Russell ...
A. A. Lebedenko +5 more
doaj
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
PLoS ONE, 2013 BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (
Tomoko Fuke +17 more
doaj +1 more source
Indian Journal of Endocrinology and Metabolism, 2012 Introduction: Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
Namburi Rajendra Prasad +4 more
doaj +1 more source
Dental and craniofacial anomalies in Silver-Russell Syndrome
, 2004 AIM: This was to describe the orofacial findings in the patients affected by Silver-Russell Syndrome and to show the dentist’s role in preventing severe dentofacial and general medical consequences.
U. Garagiola, E. Re, V. Ghiglione
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SILVER-RUSSELL SYNDROME IN COMBINATION WITH INFANTILE CEREBRAL PALSY: CLINICAL OBSERVATION
Медицина в КузбассеA case of combination a rare genetic pathology – Silver-Russell syndrome – with cerebral palsy in three-year-old child is described. The cause of this syndrome is loss of chromosome’s 11p15 (11p15LOM) methylation, maternal uni-parental disomy of ...
Нина Геннадьевна Коновалова +3 more
doaj
Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
Clinical Epigenetics, 2018 Background Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region (H19/IGF2:IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS).
Angela Sparago +2 more
doaj +1 more source
Adolescent growth and pubertal progression in the Silver-Russell syndrome
, 1988 The pattern of growth and development of 18 adolescent children with the Silver-Russell syndrome was studied. Mature height was about -3.6 standard deviation scores in both sexes.
Davies, P.S.W. +5 more
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Falling short?: The psychosocial impact of living with Russell-Silver syndrome
, 2016 Russell-Silver syndrome (RSS) is a rare genetic condition that restricts growth and in many cases, causes asymmetry. There is little research exploring how this appearance-altering, genetic condition affects people's psychosocial functioning.
Fenwick, Angela J +3 more
core +1 more source
Limb lengthening in children with Russell–Silver syndrome: A comparison to other etiologies
Journal of Children's Orthopaedics, 2013 Introduction/background Russell–Silver syndrome (RSS) is the combination of intrauterine growth retardation, difficulty feeding, and postnatal growth retardation. Leg length discrepancy (LLD) is one of four major diagnostic criteria of RSS and is present
V. Goldman +4 more
doaj +1 more source