Results 221 to 230 of about 483,969 (264)

Genetic heterogeneity in Duchenne Dystrophy

Annals of Neurology, 1987
AbstractWe evaluated 173 patients in the Clinical Investigation of Duchenne Dystrophy study to determine if patients from the same kindred were more alike clinically than patients within the study population as a whole. A high intrafamilial correlation was noted for age‐adjusted muscle strength scores. While noninherited factors could, in part, explain
C L, Hyser, M, Province, R C, Griggs, J R, Mendell, G M, Fenichel, M H, Brooke, J P, Miller, R, Polakowska, R A, Doherty, S, Quirk   +9 more
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Genetic Heterogeneity in Hereditary Thrombophilia

Pathophysiology of Haemostasis and Thrombosis, 2000
Venous thromboembolism is a multifactorial disease that depends on variable combinations of acquired and genetic risk factors. The genetic risk factors include loss-of-function mutations in the genes that encode proteins with clot-restraining function, and gain-of-function mutations in procoagulant factors.
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Genetic heterogeneity in GM1-gangliosidosis

Nature, 1975
GM1-GANGLIOSIDOSIS is an inherited lysosomal storage disease which is due to a deficiency of the acid hydrolase GM1-β-galactosidase1. During the past few years several clinical variants have been described2–6 that differ in time of onset of symptoms, involvement of visceral organs or skeletal tissue and in the degree of neuronal and mental ...
H. GALJAARD, A. HOOGEVEEN, W. KEIJZER, H. A. DE WIT-VERBEEK, A. J. J. REUSER, MAE WAN HO, D. ROBINSON   +6 more
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Genetic ascertainment with heterogeneous risk

American Journal of Medical Genetics, 1987
AbstractAnalysis of the bias of ascertainment is reformulated to deal with more general patterns commonly encountered in practice. The goal is to provide a unifying theory that will both replace the traditional, rather piecemeal, treatment of the problem and free it from certain restrictive assumptions.
Edmond A. Murphy, Deborah A. Meyers, Charles A. Rohde, John M. Opitz, James F. Reynolds   +4 more
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Genetic heterogeneity in Usher syndrome

American Journal of Medical Genetics Part A, 2004
AbstractMutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ‐domain protein), cadherin 23, protocadherin 15, sans (a scaffold‐like protein), usherin and clarin.
Bronya J B, Keats, Sevtap, Savas
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Genetic response to environmental heterogeneity

Nature, 1974
ONE of the major problems of contemporary population genetics is how to account for the large amount of genetic variation occurring in natural populations. Considerable controversy exists between those people proposing that the variation is adaptively neutral, and those arguing that most of the variation is maintained by balancing selection. One of the
J F, McDonald, F J, Ayala
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Genetic Heterogeneity of Usher Syndrome

2000
Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most
W J, Kimberling, D, Orten, S, Pieke-Dahl
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Genetic heterogeneity in Malattia Leventinese

Clinical Genetics, 2002
Malattia Leventinese (ML) is a dominant macular dystrophy characterized by drusen at the posterior pole. ML has been associated with a single mutation (R345W) in the EGF‐containing fibulin‐like extracellular matrix protein 1 (EFEMP‐1) gene, but also the EFEMP‐2 gene, known to share genetic homology with EFEMP‐1, is considered a candidate gene for this ...
Toto L, Parodi MB, Barelle F, CASARI , GIORGIO NEVIO, Ravalico G, Romano M.   +5 more
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Pseudovaginal Perineoscrotal Hypospadias: Genetic Heterogeneity

Urologic Clinics of North America, 1980
Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male hermaphoditism. The ability to make a rapid, specific biochemical diagnosis in an infant with this syndrome, and thus to predict the infant's response to androgens, could be a valuable aid in
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The Genetic Heterogeneity of “Schizophrenia”

The World Journal of Biological Psychiatry, 2000
The main reason for the inconsistent findings in schizophrenia research is the lack of diagnostic conformity. This has not changed markedly following the introduction of modern operational diagnostic systems. Taking schizophrenia as a disease entity or assuming schizophrenia spectrum psychoses to represent a continuum of diseases without any clear ...
H, Beckmann, E, Franzek
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