Results 261 to 270 of about 1,654,437 (300)
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Genetic Diagnosis of Hemophilia A
Pediatric Hematology and Oncology, 1994(1994). Genetic Diagnosis of Hemophilia A. Pediatric Hematology and Oncology: Vol. 11, No. 1, pp. 9-11.
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Diagnosis and genetics of alacrima
Clinical Genetics, 2018Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some rare conditions. Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures.
J, Adams, C P, Schaaf
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Genetic screening and diagnosis
Current Opinion in Obstetrics & Gynecology, 2005To review the latest developments in screening and diagnosis of non-chromosomal genetic diseases.Major recent advances include the completion of the Human Genome Project, the use of microarray and related technologies for mass screening and diagnosis of thousands of genetic abnormalities, and non-invasive prenatal diagnosis using fetal DNA in maternal ...
Tze Kin, Lau, Tse Ngong, Leung
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Evolution of a genetic diagnosis
Clinical Genetics, 2013Understanding the relationship between genotype and phenotype has become an integral part of the diagnosis and management of patients with inherited arrhythmias and cardiomyopathies. Given the existence of background noise, the majority of genetic testing results should be incorporated into clinical decision making as probabilistic, rather than ...
Z, Laksman +4 more
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[Preimplantation genetic diagnosis].
Ugeskrift for laeger, 2018In Denmark, preimplantation genetic diagnosis (PGD) is offered within the public healthcare to families with a known risk of an inherited disease in a child - as an alternative to prenatal diagnosis. It is a well-established technique with rather well-described perinatal- and neonatal outcomes, being comparable to what is seen following in vitro ...
Ingerslev, Hans Jakob +7 more
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The preimplantation genetic diagnosis of genetic diseases
Journal of In Vitro Fertilization and Embryo Transfer, 1990During the past decade, advances in in vitro fertilization, micromanipulation of gametes and embryos, and ultramicrobiochemical methods for analysis of gene mutations now make possible the preimplantation diagnosis of inherited disorders. The purpose of this review is to describe the current status of this newly proposed form of prenatal ...
Y, Verlinsky, E, Pergament, C, Strom
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Overview of Genetic Diagnosis in Cancer
Current Protocols in Human Genetics, 2007AbstractBoth cytogenetic and molecular genetic studies can contribute to the management of patients with cancer. In some cases genetic markers are specific to particular tumor types and are useful in diagnosis. This can be helpful in distinguishing histologically similar tumors that may respond differently to treatment and can sometimes be of ...
Bruce R, Korf, Fady M, Mikhail
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Current Opinion in Pediatrics, 1993
For many years, the mainstay of pediatric genetic testing was chromosomal analysis. Based on a technology developed in the 1950s and refined in the 1960s, this approach permitted the detection of abnormalities of chromosome number and some structural rearrangements.
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For many years, the mainstay of pediatric genetic testing was chromosomal analysis. Based on a technology developed in the 1950s and refined in the 1960s, this approach permitted the detection of abnormalities of chromosome number and some structural rearrangements.
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Human Genetics, 1970
This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”.
J W, Spranger, H R, Wiedemann
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This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”.
J W, Spranger, H R, Wiedemann
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