Results 1 to 10 of about 468,507 (253)
The Role of Pedigree Charting and Analysis in Ophthalmology
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
EvoTree; Software for easily drawing the pedigree chart with varietal characteristics
わが国では組織的な育種事業が開始された明治時代以 降,多くの品種・系統が育成され(白田 2009),それら に関する系譜・表現型データが蓄積されてきた.育成さ れた品種や系統の一部は,新たな育種目標に応じてスク リーニングされ,育種素材として新品種の育成に利用さ れてきた.しかし,多くの育成品種について育種素材と しての利用価値を判定することは困難であり,これらの 遺伝資源が十分に有効活用されてきたとはいえない.
Akane Takezaki +2 more
semanticscholar +4 more sources
Influence of maternal antibody anti-Jra on the baby: A case report and pedigree chart.
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
semanticscholar +5 more sources
FAMILIAL CATARACT WITH EXTENSIVE PEDIGREE CHART [PDF]
Irene Johnstone
semanticscholar +6 more sources
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.
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]
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]
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
A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family
BackgroundCockayne syndrome (CS) is a multisystem degenerative disorder in which dysplasia and microcephaly represent the primary criteria for diagnosis.
Fengjuan Ding +3 more
doaj +2 more sources
Pedigree Analysis of Polycystic Kidney Disease Patients: Bangladeshi Perspective
Background: Polycystic kidney disease (PKD), an inheritance disorder which is the fourth leading cause of the end-stage renal disease. The inheritance pattern can be diagnosed and confirmed by pedigree analysis.
Zohora Akther +4 more
semanticscholar +1 more source

