Síndrome de Silver-Russell: relato de caso Silver-Russell Syndrome: case report
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
The precautionary approach and the management of the European eel (Anguilla anguilla) – critical remarks [PDF]
Recruitment and commercial catches of European eel have been in decline since the late 1970s. So far, the reasons are not well understood. A range of potential natural and anthropogenic reasons have been discussed, but the relative importance of the ...
Wysujack, Klaus
core +1 more source
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
Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome [PDF]
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
Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report
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
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
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum. [PDF]
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.
Passaretti F +11 more
europepmc +2 more sources
Draft Genome Sequences of Pseudomonas aeruginosa Strain PS3 and Citrobacter freundii Strain SA79 Obtained from a Wound DressingAssociated Biofilm [PDF]
Two isolates, one from the genus Pseudomonas and the second from Citrobacter, were isolated from a wound dressing-associated biofilm. Following whole-genome sequencing, the two isolates presented genes encoding for resistance to antibiotics and those ...
Akbar, Sirwan +2 more
core +1 more source
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
Silver-Russell Syndrome and Cognitive Disorders
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

