Results 11 to 20 of about 4,687 (160)

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   +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

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   +2 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   +2 more sources

Silver–Russell syndrome [PDF]

Best Practice & Research Clinical Endocrinology & Metabolism, 2011
The Silver-Russell syndrome (SRS) is a sporadic clinically and genetically heterogeneous disorder. Diagnosis is based on the variable combination of the following characteristics: intrauterine growth retardation, short stature because of lack of catch-up growth, underweight, relative macrocephaly, typical triangular face, body asymmetry and several ...
Gerhard, Binder, Matthias, Begemann, Thomas, Eggermann, Kai, Kannenberg   +3 more
  +8 more sources

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome [PDF]

Journal of Personalized Medicine, 2021
Chia-Feng Yang, Chih-Kuang Chuang, Yu-Wen Pan   +2 more
exaly   +2 more sources

Silver–Russell syndrome in siblings with orthodontic management

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2023
Silver–Russell syndrome (SRS) is a rare congenital abnormality. The incidence ranges from 1 in 3000 to 100,000 live births. It is characterized by low birth weight, asymmetric limb, relative macrocephaly, high forehead, small triangular-shaped face with ...
Vijaylaxmi Mendigeri, Praveen Ramdurg, Fatima Zohar Lingadalli, Sanjay Ganeshkar   +3 more
doaj   +1 more source

Feeding problems in Silver-Russell syndrome [PDF]

Developmental Medicine and Child Neurology, 2001
In order to identify the prevalence and severity of feeding problems in children with Silver‐Russell syndrome(SRS) the feeding difficulties of 32 children with SRS and 32 age‐ and sex‐matched control children were assessed using the Feeding Assessment Questionnaire (Harris and Booth 1992).
J, Blissett, G, Harris, J, Kirk
openaire   +2 more sources