Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23407
Abstract: Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by… read more here.
Keywords: pendred syndrome; russell syndrome; silver russell; upd chromosome ... See more keywords
Maternally inherited autosomal dominant PLAG-1 related Silver Russell Syndrome in a fetus with intra-uterine growth restriction.
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DOI: 10.1002/pd.6364
Abstract: We report a case of maternally inherited autosomal dominant PLAG‐1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother who had growth and feeding problems in early life, dextrocardia and an… read more here.
Keywords: maternally inherited; silver russell; inherited autosomal; growth ... See more keywords
Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Endocrinology"
DOI: 10.1111/cen.14715
Abstract: 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. This study evaluated height,… read more here.
Keywords: hormone treatment; silver russell; growth hormone; russell syndrome ... See more keywords
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13490
Abstract: To the Editor: We present a 35-year-old male with a de novo reciprocal chromosomal translocation (RCT) t(1;17)(q24.3;q24.2) reported in 1993 as the second observation of Silver-Russell syndrome (SRS) (MIM#180860) following the report by Ramírez-Dueñas et… read more here.
Keywords: russell syndrome; silver russell; disorder dysmorphic; year old ... See more keywords
Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2018-314952
Abstract: Objective There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by slow growth in utero leading to short stature in adulthood. Such information could aid families in making… read more here.
Keywords: russell syndrome; silver russell; childhood; lived experience ... See more keywords
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2018-105463
Abstract: Background Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features. Objective To clarify the prevalence of… read more here.
Keywords: russell syndrome; silver russell; upd mat; phenotype unknown ... See more keywords
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-107699
Abstract: Background Silver-Russell syndrome (SRS) is an imprinting disorder characterised by prenatal and postnatal growth restriction, but its clinical features are non-specific and its differential diagnosis is broad. Known molecular causes of SRS include imprinting disturbance,… read more here.
Keywords: whole genome; russell syndrome; silver russell; diagnosis ... See more keywords
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108288
Abstract: Background Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes. Copy number variants in IC2 are associated with Beckwith-Wiedemann syndrome… read more here.
Keywords: silver russell; deletion; 132 deletion; kcnq1ot1 gene ... See more keywords
Executive functioning in adolescents and adults with Silver-Russell syndrome
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DOI: 10.1371/journal.pone.0279745
Abstract: Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of… read more here.
Keywords: executive functioning; silver russell; 11p15 lom; executive ... See more keywords
Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies.
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DOI: 10.1590/2317-1782/20212020273
Abstract: Silver Russell Syndrome (SRS) is a genetically heterogeneous condition with a clinical phenotype that includes intrauterine and postnatal growth restriction, craniofacial alterations, body asymmetries, low body mass index, and feeding difficulties. Alterations in motor development,… read more here.
Keywords: russell syndrome; silver russell; communication characteristics; clinical neurodevelopmental ... See more keywords
Clinical and Molecular Heterogeneity of Silver Russell Syndrome and Therapeutic Challenges: A Systematic Review.
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DOI: 10.2174/1573396318666220315142542
Abstract: Background Silver-Russell syndrome (SRS) is a developmental disorder with extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the clinical heterogeneity of SRS makes diagnosis a challenging task, the worldwide incidence of SRS… read more here.
Keywords: heterogeneity; silver russell; clinical presentation; systematic review ... See more keywords