Results 111 to 120 of about 4,687 (160)

Correction to: "Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene". [PDF]

J Clin Endocrinol Metab
europepmc   +1 more source

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
Frontiers Production Office.
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

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

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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.
Philip Stanier
exaly   +3 more sources

Genetics of Silver-Russell Syndrome

Hormone Research in Paediatrics, 1998
The Silver-Russell syndrome (SRS) is generally sporadic, but with sufficient reported cases of dominant and recessive patterns of inheritance to suggest a genetic cause in some cases, at least. No consistent cytogenetic abnormalities have been found although some features of the syndrome have been reported to be associated with structural abnormalities
E L, Wakeling, S, Abu-Amero, S M, Price, P, Stanier, R C, Trembath, G E, Moore, M A, Preece   +6 more
openaire   +2 more sources

Epigenetics in Silver-Russell syndrome

Best Practice & Research Clinical Endocrinology & 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, Yves, Le Bouc, Christine, Gicquel   +3 more
openaire   +2 more sources