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Penchaszadeh,Victor B.; Rojas-Martinez,Augusto; Llerena,Adrián. |
José María ("Chema") Cantú (1938-2007), born in Mexico, was a pioneering, loved and respected leader in medical and human genetics and bioethics in Latin America. He graduated as a physician in Mexico and then trained in medical and human genetics in France and the United States. He was instrumental in developing a first-rate research, training and genetic services program in medical and human genetics in Guadalajara, in northwestern Mexico. He acted forcefully at national, regional and international levels to promote scientific development through collaboration and education in science and humanities, while he simultaneously strived for justice, peace, love and human rights. He attained some of the highest honors a scientist and humanist could aspire to... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cantú José María; Medical genetics; Human genetics; Bioethics; Latin America. |
Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200018 |
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Poletta,Fernando A.; Orioli,Ieda M.; Castilla,Eduardo E.. |
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Medical genetics; Population medical genetics; Geographic clusters; Isolates; Rare diseases. |
Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200004 |
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