Results 311 to 320 of about 306,770 (339)
Some of the next articles are maybe not open access.
American Journal of Ophthalmology, 1994
We reviewed the clinical records of 47 patients (92 eyes) at the Wilmer Institute in whom foveomacular dystrophy had been diagnosed between 1977 and 1990 to determine reasons for initial examination, long-term visual prognosis, and the factors associated with visual loss.
J I, Lim, C, Enger, S L, Fine
openaire +2 more sources
We reviewed the clinical records of 47 patients (92 eyes) at the Wilmer Institute in whom foveomacular dystrophy had been diagnosed between 1977 and 1990 to determine reasons for initial examination, long-term visual prognosis, and the factors associated with visual loss.
J I, Lim, C, Enger, S L, Fine
openaire +2 more sources
The Indian Journal of Pediatrics, 2004
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Monisha, Mukherjee, Balraj, Mittal
openaire +2 more sources
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Monisha, Mukherjee, Balraj, Mittal
openaire +2 more sources
Current Opinion in Neurology, 2000
This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy.
openaire +2 more sources
This review demonstrates genetic and phenotypic heterogeneity in all of the multisystemic myotonic disorders collectively called 'myotonic dystrophies' according to the new nomenclature: myotonic dystrophy type 1, myotonic dystrophy type 2, proximal myotonic myopathy and proximal myotonic dystrophy.
openaire +2 more sources
Clinical Obstetrics and Gynecology, 1986
Vulvar dystrophy is a relatively frequent gynecologic problem in postmenopausal women and may cause disabling discomfort. All patients with vulvar dystrophy should be carefully evaluated at the time of initial presentation and during therapy. Biopsies of vulvar lesions should be used liberally to define optimal therapy and to exclude atypia or ...
J T, Soper, W T, Creasman
openaire +2 more sources
Vulvar dystrophy is a relatively frequent gynecologic problem in postmenopausal women and may cause disabling discomfort. All patients with vulvar dystrophy should be carefully evaluated at the time of initial presentation and during therapy. Biopsies of vulvar lesions should be used liberally to define optimal therapy and to exclude atypia or ...
J T, Soper, W T, Creasman
openaire +2 more sources
The Indian Journal of Pediatrics, 2000
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
openaire +2 more sources
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
openaire +2 more sources
Continuum, 2022
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research.
openaire +2 more sources
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research.
openaire +2 more sources
Medical Hypotheses, 1985
Myotonic dystrophy (MYD) has been localized to chromosome 19. Like other hereditary diseases with a genetic locus assigned to chromosome 19, MYD is a genetically inherited autosomal dominant disease. It is speculated that such a genetic pattern may express the characteristics of chromosome 19.
openaire +2 more sources
Myotonic dystrophy (MYD) has been localized to chromosome 19. Like other hereditary diseases with a genetic locus assigned to chromosome 19, MYD is a genetically inherited autosomal dominant disease. It is speculated that such a genetic pattern may express the characteristics of chromosome 19.
openaire +2 more sources
Neurologic Clinics, 1988
Myotonic dystrophy is an autosomal dominant disorder that results in skeletal muscle weakness and wasting, myotonia, and numerous nonmuscular manifestations including frontal balding, cataracts, gonadal dysfunction, cardiac conduction abnormalities, respiratory insufficiency, and hypersomnolence.
R F, Jozefowicz, R C, Griggs
openaire +2 more sources
Myotonic dystrophy is an autosomal dominant disorder that results in skeletal muscle weakness and wasting, myotonia, and numerous nonmuscular manifestations including frontal balding, cataracts, gonadal dysfunction, cardiac conduction abnormalities, respiratory insufficiency, and hypersomnolence.
R F, Jozefowicz, R C, Griggs
openaire +2 more sources
The Lancet, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
openaire +3 more sources
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
openaire +3 more sources
Clinics in Podiatric Medicine and Surgery, 2004
Various individual nail dystrophies that are not easily categorized within other articles are reviewed. Onychoatrophia, anonychia, onychorrhexsis, leukonychia, Beau's lines, onycholysis, onychomadesis, onychoschizia, haplonychia, longitudinal melanonychia, and ventral pterygium are included and clinically pictured. Their clinical description, etiology,
openaire +2 more sources
Various individual nail dystrophies that are not easily categorized within other articles are reviewed. Onychoatrophia, anonychia, onychorrhexsis, leukonychia, Beau's lines, onycholysis, onychomadesis, onychoschizia, haplonychia, longitudinal melanonychia, and ventral pterygium are included and clinically pictured. Their clinical description, etiology,
openaire +2 more sources