Results 91 to 100 of about 10,203 (190)

Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion

, 2020
Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation.
Arrate Pereda, Isabel Llano-Rivas, Guiomar Perez de Nanclares, Yerai Vado, Nerea Gorria-Redondo, Ignacio Díez   +5 more
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

The lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

, 2019
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.
Temple, Isabel, Byrne, Christopher, Child, Jenny. C, Child, Jenny, Mackay, Deborah J.G, Byrne, Christopher. D, Temple, I. Karen, Fenwick, Angela, Ballard, Lisa M., Wakeling, Emma L., Jenkinson, Elizabeth, Mackay, Deborah, Davies, Justin. H, Inskip, Hazel, Lokulo-Sodipe, Oluwakemi, Davies, Justin, Ballard, Lisa, Wakeling, Emma. L   +17 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Picture Story Silver-Russell syndrome

, 2014
A baby boy weighing 1500g was delivered by caesarean section at 40 weeks of gestation. He was the 3rd sibling born to non-consanguineous parents with 2 other normal children.
I M S B Idirisinghe
core  

Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

BMC Pediatrics
Background Imprinted genes, characterized by monoallelic expressions (either maternal or paternal), they are crucial for normal growth and development. Disruption of their monoallelic expressions leads to imprinting disorders (ImpDis).
Amal M. Mohamed, Ola Eid, Marwa Farid, Engy Ashaat, Ghada M. H. Abdel-Salam, Hala T. El-Bassyouni, Mahmoud Essa, Rana Mahrous, Peter S. F. Erian, Khaled M. Refaat, Alaaeldin Fayez, Maha Zaki   +11 more
doaj   +1 more source

Molecular investigation of Beckwith-Wiedemann syndrome and Silver-Russell Syndrome [PDF]

, 2018
The investigation of human imprinting disorders has provided important insights into the role of genomic imprinting in normal health and development. Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormal function ...
Lan-Leung, Benoît
core  

[The Silver-Russell syndrome].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1994
The authors describe a case of Silver-Russell Syndrome with severe deficit growth. They display the major and minor features of the syndrome, and discuss about the possible pathogenetic causes.
B, Spano, F, Cossu, R, Oggiano, M G, Olzai, A, Balata   +4 more
openaire   +1 more source

Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.

, 2010
Genomic imprinting is an epigenetic phenomenon resulting in differential expression of maternal and paternal alleles of a subset of genes. In the mouse, mutation of imprinted genes often results in contrasting phenotypes, depending on parental origin ...
SELICORNI A, POZZAN, GIOVANNI BATTISTA, PETRELLA M, CUBELLIS MV, CARDARELLI L, RICCIO A., CAVICCHIOLI P, SPARAGO A, Pozzan GB, RICCIO, Andrea, Zavan B, DE CRESCENZO A, NALESSO E, ZAVAN, BARBARA, CUBELLIS, MARIA VITTORIA   +14 more
core   +1 more source

Epigenotype-phenotype correlations in Silver-Russell syndrome

, 2010
Background Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry.
Moore, GE, Poole, Rebecca L, Bliek, J, Wakeling, E L, M. Alders, C. L. S. Turner, Poole, R.L., MacDonald, F., E. Forsythe, Moore, G E, Cobben, JM, Abu Amero, Sayeda, Lim, D.H., Poole, RL, Temple, IK, Turner, C L S, Maher, Eamonn, Alders, Marielle, Poole, R. L., Lim, Derek, F. MacDonald, Forsythe, E., T. Tangeraas, Lim, D. H., S. M. Price, Poole, R L, Maher, E.R., S. Kumar, Temple, Karen I, MacDonald, Fiona, Moore, G. E., Mackay, Deborah J, M. M. Van Haelst, MacDonald, F, Wakeling, EL, Temple, I K, Van Haelst, M M, Tangeraas, T, Maher, E R, Bliek, J., Maher, E. R., Forsythe, E, Price, Susan M, D. H. Lim, Wakeling, E. L., Cobben, J.M., van Haelst, Mieke M, Amero, S.A., E. R. Maher, R. L. Poole, Alders, M., Moore, G.E., G. E. Moore, Willowby, Catherine, Turner, C.L.S., Bliek, Jet, Tangeraas, Trine, Abu Amero, S, Kumar, S., Tangeraas, T., Temple, I.K., Moore, Gudrun E, Temple, I. K., Cobben, J M, Wakeling, E.L., Abu Amero, S., Forsythe, Elizabeth, C. Willoughby, Cobben, Jan Maarten, Kumar, Shraddha, Amero, S. Abu, Mackay, D J, Lim, D H, J. Bliek, Willoughby, C., Alders, M, Van Haelst, M. M., Price, S. M., Willoughby, C, Mackay, DJ, S. A. Amero, Turner, Claire Ls, Price, SM, I. K. Temple, Turner, C. L. S., Amero, S Abu, Turner, CLS, Mackay, D.J., Cobben, J. M., Price, S M, Van Haelst, MM, E. L. Wakeling, Van Haelst, M.M., J. M. Cobben, Mackay, D. J., Wakeling, Emma L, Lim, Derek H, Kumar, S, D. J. Mackay, Maher, Eamonn R, Price, S.M.   +100 more
core   +1 more source