Results 11 to 20 of about 58,780 (225)

Investigation of methylation profiles in Silver–Russell syndrome to explore episignatures [PDF]

Clinical Epigenetics
Background Episignatures are disease-specific, genome-wide DNA methylation patterns identified in more than 100 genetic syndromes caused by mutation of genes related to epigenetic modifiers.
Kaori Hara-Isono, Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Keiko Matsubara, Maki Fukami, Tsutomu Ogata, Tomoko Kawai, Masayo Kagami   +9 more
doaj   +3 more sources

11p13 microduplication: a differential diagnosis of Silver–Russell syndrome? [PDF]

Molecular Cytogenetics
Background Silver–Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms.
Asmaa K. Amin, Jeremias Krause, Thomas Eggermann   +2 more
doaj   +3 more sources

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome [PDF]

JCI Insight
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear.
Avinaash V. Maharaj, Emily Cottrell, Thatchawan Thanasupawat, Sjoerd D. Joustra, Barbara Triggs-Raine, Masanobu Fujimoto, Sarina G. Kant, Danielle van der Kaay, Agnes Clement-de Boers, Alice S. Brooks, Gabriel Amador Aguirre, Irene Martín del Estal, María Inmaculada Castilla de Cortázar Larrea, Ahmed Massoud, Hermine A. van Duyvenvoorde, Christiaan De Bruin, Vivian Hwa, Thomas Klonisch, Sabine Hombach-Klonisch, Helen L. Storr   +19 more
doaj   +3 more sources

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review [PDF]

Clinical Epigenetics
Silver–Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of HMGA2 (NM_003483.6:c.138_141delinsCT, p ...
Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata   +4 more
doaj   +3 more sources

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment [PDF]

Clinical Endocrinology, 2022
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.
Kemi Lokulo-Sodipe, Eloise Giabicani, Jenny Child   +2 more
exaly   +3 more sources

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion [PDF]

Scientific Reports
Silver-Russell syndrome (SRS, MIM#180860) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, feeding difficulties, and body asymmetry.
Alessandro Vimercati, Giuseppa Patti, Pierpaola Tannorella, Sara Guzzetti, Luciano Calzari, Lara Branca, Melissa Bellini, Lidia Larizza, Flavia Napoli, Anna Elsa Maria Allegri, Mohamad Maghnie, Silvia Russo   +11 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

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

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

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