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Endokrynologia Polska, 2023 INTRODUCTION Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11.
Anna Świąder-Leśniak +6 more
semanticscholar +1 more source
Síndrome de Silver-Russell: relato de caso Silver-Russell Syndrome: case report
Revista CEFAC, 2006 OBJETIVO: descrever o fenótipo da síndrome de Silver-Russell (SSR) e apresentar um caso diagnosticado com esta afecção genética, abordando aspectos genéticos, psicológicos e fonoaudiológicos.
Natalia Freitas Rossi +3 more
doaj +1 more source
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome [PDF]
, 2016 Silver Russell Syndrome (SRS) syndrome is an imprinting disorder involving low birth weight with complex genetics and diagnostics. Some rare SRS patients carry maternally inherited microduplications spanning the imprinted genes CDKN1C, PHLDA2, SLC22A18 ...
Davis, Brittany Ann +4 more
core +1 more source
Ультрадисперсные порошки на основе железа как катализаторы синтеза жидких углеводородов из СО и Н[2] [PDF]
, 2005 International audienceTo date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist.
Altug-Teber, Ozge +11 more
core +2 more sources
Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report
Case Reports in Pediatrics, 2012 Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years.
Mohsen Javadzadeh +2 more
doaj +1 more source
A Case Report of Silver-Russell Syndrome in Iran
Journal of Dental School, 2020 Objectives Silver-Russell syndrome (SRS) is a rare genetic disorder which is typically characterized by prenatal and postnatal growth failure and asymmetry in the size of the two halves or other parts of the body.
Arezoo Mahdian +2 more
doaj +1 more source
World Journal of Clinical Cases, 2023 BACKGROUND Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a cell proliferation inhibitor that regulates the cell cycle and cell growth through G1 cell cycle arrest.
Jie-yan Li, Li-Na Chen, Haijuan He
semanticscholar +1 more source
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children [PDF]
, 2017 Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7) mat] explain 20-60% and 10% of the syndrome, respectively.
Bergstrom, Anna +10 more
core +2 more sources
Silver-Russell Syndrome and Cognitive Disorders
Pediatric Neurology Briefs, 1995 Cognitive abilities of 20 boys and 5 girls, aged 6 to 11 years, with Silver-Russell syndrome were investigated at the Prince of Wales Hospital, Shatin, Hong Kong, the Institute of Child Health, and Middlesex Hospital, London, UK.
J Gordon Millichap
doaj +1 more source
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]
, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core +2 more sources