Results 1 to 10 of about 22,844 (195)

The Role of Pedigree Charting and Analysis in Ophthalmology

open access: diamondDelhi Journal of Ophthalmology, 2023
In the age of fast-evolving medicine, as we understand disease pathology and the role of genetic mutations in causation more clearly, advancement in treatment methodologies such as gene therapy is gaining pace.
Ria Ratna, Shailja Tibrewal
doaj   +3 more sources

How family charts became Mendelian: The changing content of pedigrees and its impact on the consolidation of genetic theory

open access: hybridHistory of the Human Sciences, 2022
This article offers a close examination of a small selection of pedigrees taken from German Mendelian and eugenic scholarship of the 1920s and 1930s. It examines the procedures that became customary for presenting data on human inherited pathologies, as well as the frequent changes in the information content of those charts.
Amir Teicher
openalex   +2 more sources

Mode of Taste-Blindness as Considered from Pedigree Charts.

open access: diamondJapanese Journal of Health and Human Ecology, 1952
Six pedigrees of non-tasters were recorded and the mode of inheritance was discussed. They conform with conventional theory of simple Mendelian recessive inheritance. In a pedigree were found three (two male and a female) non-tasters of very low manifestation.
K. Hukuda   +2 more
openalex   +3 more sources

Drawing human pedigree charts with DrawPed [PDF]

open access: goldNucleic Acids Research
Abstract Creating pedigree charts is a recurring task in biomedical research, but there are few online tools for drawing complex human pedigrees available and even fewer are free. With DrawPed we aim to close this gap. DrawPed automatically draws pedigree charts from standard PED format pedigree files.
Janina Schönberger   +2 more
openalex   +3 more sources

Artificial Intelligence Techniques and Pedigree Charts in Oncogenetics: Towards an Experimental Multioutput Software System for Digitization and Risk Prediction [PDF]

open access: goldComputation
Pedigree charts remain essential in oncological genetic counseling for identifying individuals with an increased risk of developing hereditary tumors. However, this valuable data source often remains confined to paper files, going unused. We propose a computer-aided detection/diagnosis system, based on machine learning and deep learning techniques ...
Luana Conte   +5 more
openalex   +4 more sources

Influence of maternal antibody anti-Jra on the baby: A case report and pedigree chart.

open access: bronzeThe Tohoku Journal of Experimental Medicine, 1985
A Jr(a-) female (proposita) who has developed anti-Jra during her second pregnancy and her pedigree chart are reported. The antibody anti-Jra of the proposita and her baby was determined to be IgG and was eluted from their red cells. The baby's bilirubin rose to a peak on day 4 without clinical problem except for prophylactic phototherapy carried out ...
T. Takabayashi   +5 more
openalex   +4 more sources

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