Results 241 to 250 of about 1,046,392 (296)
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Industrial injuries of the eye.
Journal of the All-India Ophthalmological Society, 1968 openaire +2 more sources
Scottish Medical Journal, 2010 Most ocular injuries involve only the external eye. However, in approximately one-third of cases the intraocular structures are damaged with potentially sight threatening consequences. A small number of sports, such as soccer, rugby, hockey and the racquet sports are responsible for most injuries.
C J Macewen
exaly +4 more sources
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Pediatrics, 1987
A 3-year survey was conducted of all children with eye injuries admitted to Wills Eye Hospital to determine demographic, etiologic, and prophylatic factors. There were 278 cases, representing 22% of all ocular injuries in children requiring admission. The frequency of childhood ocular injuries is high, often resulting in serious visual impairment. Many
T R, Grin, L B, Nelson, J B, Jeffers
exaly +3 more sources
A 3-year survey was conducted of all children with eye injuries admitted to Wills Eye Hospital to determine demographic, etiologic, and prophylatic factors. There were 278 cases, representing 22% of all ocular injuries in children requiring admission. The frequency of childhood ocular injuries is high, often resulting in serious visual impairment. Many
T R, Grin, L B, Nelson, J B, Jeffers
exaly +3 more sources
Acta Ophthalmologica, 1984
To study eye injuries in agriculture we reviewed the case records of 662 patients with eye injuries treated at the Department of Ophthalmology, Central Hospital of Tampere between the years 1972 and 1979. Of the whole material 96 (14.5%) were agricultural workers, 74 (77%) male and 22 (23%) female, with the mean age of 43 years.
K M, Saari, E, Aine
exaly +3 more sources
To study eye injuries in agriculture we reviewed the case records of 662 patients with eye injuries treated at the Department of Ophthalmology, Central Hospital of Tampere between the years 1972 and 1979. Of the whole material 96 (14.5%) were agricultural workers, 74 (77%) male and 22 (23%) female, with the mean age of 43 years.
K M, Saari, E, Aine
exaly +3 more sources
International Ophthalmology, 1987
A 17-year-old male suffered superficial and deep facial burns after coming into contact with a high tension electrical cable with his head and right side of the face. The right eye sustained severe thermal coagulative injuries and subsequently was enucleated. Histopathological examination showed that the retinal neuropile was relatively intact although
S M, Al Rabiah +4 more
openaire +2 more sources
A 17-year-old male suffered superficial and deep facial burns after coming into contact with a high tension electrical cable with his head and right side of the face. The right eye sustained severe thermal coagulative injuries and subsequently was enucleated. Histopathological examination showed that the retinal neuropile was relatively intact although
S M, Al Rabiah +4 more
openaire +2 more sources