Results 31 to 40 of about 58,220 (206)

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)
Silver-Russell syndrome (SRS, OMIM, 180860) is a rare genetic disorder with a wide spectrum of symptoms. The most common features are intrauterine growth retardation (IUGR), poor postnatal development, macrocephaly, triangular face, prominent forehead ...
Silvia Ventresca, F. Lepri, Sabrina Criscuolo, G. Bottaro, A. Novelli, Sandro Loche, Marco Cappa   +6 more
semanticscholar   +2 more sources

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype [PDF]

J Med Genet, 2022
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.
Marie Véronique Gaudet, Eric P. Allain, Lynne M Gallant, H. Arts, Mouna Ben Amor   +4 more
semanticscholar   +2 more sources

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Disease Models & Mechanisms, 2020
Genomic imprinting, a phenomenon in which the two parental alleles are regulated differently, is observed in mammals, marsupials and a few other species, including seed-bearing plants. Dysregulation of genomic imprinting can cause developmental disorders
Suhee Chang, Marisa S. Bartolomei
doaj   +2 more sources

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes [PDF]

Mol Cytogenet, 2022
Background Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features.
N. Baba, Anna Lengyel, Éva Pinti, Elzem Yapici, I. Schreyer, T. Liehr, G. Fekete, Thomas Eggermann   +7 more
semanticscholar   +2 more sources

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report [PDF]

BMC Medical Genomics, 2018
Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares   +7 more
doaj   +4 more sources

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum [PDF]

Genes (Basel), 2022
Silver–Russell syndrome is an imprinting disorder characterised by pre- and post-natal growth retardation and several heterogeneous molecular defects affecting different human genomic loci.
F. Passaretti, Laura Pignata, G. Vitiello, V. Alesi, Gemma D’Elia, Francesco Cecere, F. Acquaviva, D. De Brasi, A. Novelli, A. Riccio, A. Iolascon, F. Cerrato   +11 more
semanticscholar   +2 more sources

Silver–Russell syndrome: a literature review

Consilium Medicum
Slow growth and growth retardation compared to age norms are a common reason for seeking specialized medical care from a pediatrician and pediatric endocrinologist.
Alyona A. Antonova, Gulnara R. Sagitova, Galina A. Yamanova, Markha T. Yunusova, Malika R. Bekmurzaeva, Aminat Sh. Gazueva, Vasily M. Sereda   +6 more
doaj   +2 more sources

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis [PDF]

Clinical Epigenetics
Context Silver-Russell syndrome (SRS) is a complex multisystem condition requiring timely diagnosis for appropriate management. A clinical diagnosis is made in individuals scoring ≥ 4 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria, with (epi)
Uttara Kurup, David B. N. Lim, Avinaash V. Maharaj, Miho Ishida, Justin H. Davies, Helen L. Storr   +5 more
doaj   +2 more sources

Anesthesia experience in an adult Silver-Russell syndrome: a case report [PDF]

JA Clinical Reports
Background There are no reports of anesthesia use in adult patients with Silver-Russell syndrome (SRS). Here, we report our experience with anesthesia in an adult patient with SRS complicated by chronic respiratory failure.
Akinobu Hibino, Ayaka Hibino, Yoshinori Kamiya   +2 more
doaj   +2 more sources

Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach [PDF]

Medicina
Background and Objectives: Silver–Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry.
Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop   +4 more
doaj   +2 more sources