Results 31 to 40 of about 58,780 (225)

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome. [PDF]

Int J Med Sci
Background: Silver-Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by prenatal and postnatal growth failure. The aim of this study was to identify the epigenotype-phenotype correlations
Lin HY, Lee CL, Tu YR, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP.   +18 more
europepmc   +2 more sources

Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age. [PDF]

Front Endocrinol (Lausanne), 2022
Context Data on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methods Retrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental disomy of ...
Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N.   +14 more
europepmc   +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

Genetic syndromes associated with overgrowth in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific ...
Jung Min Ko
doaj   +1 more source

Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review. [PDF]

Front Genet
Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder. A retrospective analysis predicted that the live birth prevalence of SRS in Estonia is 1:15,886 [Yakoreva et al., Eur J Hum Genet, 2019, 27(11), 1649–1658].
Wu K, Zhu Y, Zhu Q.
europepmc   +2 more sources

Atrial septal defect and patent ductus arteriosus closure in an 8‐month‐old patient with Silver‐Russell syndrome

Clinical Case Reports, 2021
We present a case of an 8‐month‐old boy with Silver‐Russell syndrome who had high pulmonary vascular resistance, atrial septal defect, and patent ductus arteriosus. He underwent cardiac surgery using cardiopulmonary bypass without any complications.
Ryoma Oda, Keisuke Nakanishi, Shiori Kawasaki, Atsushi Amano   +3 more
doaj   +1 more source

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

J Clin Endocrinol Metab
Context Low birth weight, as seen in Silver-Russell syndrome (SRS), is associated with later cardiometabolic disease. Data on long-term outcomes and adult body composition in SRS are limited. Objective To evaluate body composition and metabolic health in
Lokulo-Sodipe O, Inskip HM, Byrne CD, Child J, Wakeling EL, Mackay DJG, Temple IK, Davies JH.   +7 more
europepmc   +2 more sources

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

Italian Journal of Pediatrics, 2020
Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life,
Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione   +6 more
doaj   +1 more source

Percutaneous endoscopic gastrostomy helped to normalise feeding problems and gastrointestinal symptoms in Silver-Russell syndrome. [PDF]

Acta Paediatr
This study evaluated feeding problems and gastrointestinal symptoms in children with Silver‐Russell syndrome (SRS), which is a rare epigenetic disorder.
Muz N, Petersson M, Saalman R, Dahlgren J.   +3 more
europepmc   +2 more sources

New developments in Silver-Russell syndrome and implications for clinical practice [PDF]

, 2016
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Ishida, M
core   +1 more source