Results 141 to 150 of about 10,203 (190)

Erratum: Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum. [PDF]

Front Genet
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europepmc   +1 more source

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant. [PDF]

Front Endocrinol (Lausanne)
Ventresca S, Lepri FR, Criscuolo S, Bottaro G, Novelli A, Loche S, Cappa M.   +6 more
europepmc   +1 more source

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

J Clin Endocrinol Metab
Lokulo-Sodipe O, Inskip HM, Byrne CD, Child J, Wakeling EL, Mackay DJG, Temple IK, Davies JH.   +7 more
europepmc   +1 more source

P236: Familial Russell-Silver syndrome: Hypomethylation of imprinting center 1 in two siblings

Genetics in Medicine Open
Kendra Engleman, Ana S.A. Cohen, Joseph Alaimo, Bonnie Sullivan   +3 more
doaj   +1 more source

Silver-Russell Syndrome: A Review

Neonatal Network, 2017
AbstractSilver-Russell syndrome (SRS) is a rare congenital imprinting disorder. The genetic findings in SRS patients are heterogeneous and often sporadic. However, chromosomes 7, 11, and 17 are consistently involved in all individuals who meet the strict diagnostic criteria of SRS. There are many clinical features characteristic of SRS; the most common
Bernice Sophie, Spiteri, Yanika, Stafrace, Jean, Calleja-Agius   +2 more
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Epigenetics in Silver-Russell syndrome

Best Practice and Research in Clinical Endocrinology and Metabolism, 2008
Silver-Russell syndrome (SRS) is a clinically heterogeneous syndrome characterized by intra-uterine and postnatal growth retardation with spared cranial growth, dysmorphic features and frequent body asymmetry. Various cytogenetic abnormalities have been described in a small number of SRS or SRS-like cases involving chromosomes 7, 8, 11, 15, 17 and 18 ...
Sylvie Rossignol, Irène Netchine, Christine Gicquel   +2 more
exaly   +3 more sources

The search for the gene for Silver‐Russell syndrome

Acta Paediatrica, International Journal of Paediatrics, 1999
Patients with Silver‐Russell syndrome display intrauterine growth restriction and other dysmorphic features. No single genetic cause for this syndrome has been found, although there are a small number of familial cases and some patients with chromosomal rearragements.
Sayeda Abu-Amero, David Monk, Philip Stanier   +2 more
exaly   +3 more sources