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A novel presentation of juvenile idiopathic arthropathy
Amitraz poisoning, an emerging problem: epidemiology, clinical features, management, and preventive strategies
Neuroradiological aspects of subdural haemorrhages
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
KAWASAKI DISEASE: WHAT TO DO WITH INCOMPLETE CASES?
Sexually transmitted organisms in sexually abused children
The “thumb and wrist sign” in Marfan syndrome
Impact of congenital colour vision defects on occupation
Why is compliance with occlusion therapy for amblyopia so hard? A qualitative study
Pulse oximetry, severe retinopathy, and outcome at one year in babies of less than 28 weeks gestation
Retinal haemorrhage and fatal stroke in an infant with fibromuscular dysplasia
CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia
A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36
Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
Homozygosity mapping of a third Joubert syndrome locus to 6q23
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
Homozygosity mapping to the USH2A locus in two isolated populations
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
Medicines for migraine
Asymptomatic cerebellar medulloblastoma unmasked by minor head injury
Mild head injury with isolated third nerve palsy
Should a child with preseptal periorbital cellulitis be treated with intravenous or oral antibiotics?
Pneumocephalus after epidural injections
Effect of blood transfusion on lipid peroxidation in preterm infants
Prenatal three dimensional ultrasound detection of linear nevus sebaceous syndrome
Visual and cerebral sequelae of very low birth weight in adolescents
Breath pentane as a marker for lipid peroxidation and adverse outcome in preterm infants
Providing stability in oxygenation for preterm infants: is transcutaneous oxygen monitoring really better than pulse oximetry?
Retinopathy of prematurity in small-for-gestational age infants compared with those of appropriate size for gestational age
Twenty year review of histopathological findings in enucleated/eviscerated eyes
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
Vigabatrin associated retinal dysfunction in children with epilepsy
Age no barrier to diagnosis
A balancing act
Domestic violence: the shaken adult syndrome
Occular trauma related to airbag deployment
BET 4. COMPUTED TOMOGRAPHIC ANGIOGRAPHY FOR DETECTION OF SUBARACHNOID HAEMORRHAGE
Do hyperoxaemia and hypocapnia add to the risk of brain injury after intrapartum asphyxia?
Cutis marmorata telangiectatica congenita
A randomised controlled trial of two methods of delivering nasal continuous positive airway pressure after extubation to infants weighing less than 1000 g: binasal (Hudson) versus single nasal prongs
A diagnostic rule for tuberculous meningitis
Visual outcome of malignant hypertension in young people
Pitfalls in imaging subdural haematoma
Sudden visual loss after closed head injury
“Minding the ends”: a simple technique for repair of lower eyelid lacerations
Mydriasis due to Datura inoxia
A young man with a headache
Primary intraventricular haemorrhage in an 11 year old child
Bilateral posterior dislocation of the crystalline lens after a head injury sustained during a seizure
Trans-oculofacial injury from airgun pellet
Retinal detachment diagnosed by magnetic resonance imaging
Taurine in neonatal nutrition - revisited
Children born weighing less than 1701 g: visual and cognitive outcomes at 11-14 years
Diagnosis and management of common maxillofacial injuries in the emergency department. Part 3: orbitozygomatic complex and zygomatic arch fractures
Increased survival and deteriorating developmental outcome in 23 to 25 week old gestation infants, 1990-4 compared with 1984-9
High or low oxygen saturation for the preterm baby
Extremely preterm births: recommendations for treatment in European countries
Immunohistochemical staining for adipophilin, perilipin and TIP47
Bilateral chronic fungal dacryocystitis caused by Candida dubliniensis in a neutropenic patient
Bickerstaff’s brainstem encephalitis related to Campylobacter jejuni gastroenteritis
The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies
The genetics of childhood cataract
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
Retinal haemorrhages and convulsions
Diagnosis and management of benign intracranial hypertension
Position paper on the use of botulinum toxin in cerebral palsy
Recognition and management of narcolepsy
Chlamydia trachomatis respiratory infection in Dutch infants
Long term medical conditions: career prospects
Radiology case report: a nasty orbital abscess
14 Assessment and management of neurological problems (1)
Oxygen therapy for infants with chronic lung disease
Retinopathy of prematurity: recent advances in our understanding
Randomised trial of dopamine compared with hydrocortisone for the treatment of hypotensive very low birthweight infants
Clinical and laboratory findings in referrals for mitochondrial DNA analysis
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