From Mendel to Medical Genetics
Language English Country England, Great Britain Media print
Document type Historical Article, Journal Article, Research Support, Non-U.S. Gov't
PubMed
29297875
PubMed Central
PMC5763265
DOI
10.1038/ejhg.2017.157
PII: ejhg2017157
Knihovny.cz E-resources
- MeSH
- Committee Membership MeSH
- History, 20th Century MeSH
- History, 21st Century MeSH
- Genetic Counseling organization & administration MeSH
- Genetic Testing methods MeSH
- Professional Staff Committees history organization & administration MeSH
- Genetics, Medical history MeSH
- Humans MeSH
- Workforce MeSH
- Specialty Boards history organization & administration MeSH
- Societies, Scientific history organization & administration MeSH
- Check Tag
- History, 20th Century MeSH
- History, 21st Century MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
- Historical Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Europe MeSH
Charles University and Motol University Hospital Prague Czech Republic
Department of Clinical Genetics and Pathology Lund University Lund University Hospital Lund Sweden
See more in PubMed
Garrod AE: The incidence of alkaptonurea: a study in chemical individuality. Lancet 1902; 2: 1616–1620.
Landsteiner K: Ueber agglutinationserscheinungen normalen menschlichen Blutes. Wiener Klinische Wochenschrift 1901; 46: 1132–1134. PubMed
McKusick VA. Mendelian inheritance in man, a catalogue of autosomal dominant. Autosomal Recessive, and X-linked Phenotypes 1st edn. Baltimore, MD: Johns Hopkins University Press, (1966.
Online Mendelian Inheritance in Man. An Online Catalog of Human Genes and Genetic Disorders (OMIM), 2017 https://www.omim.org/statistics/entry (accessed 8 September 2017).
Orphanet, 2017 https://www.orpha.net (accessed 8 September 2017).
European Union of Medical Specialists, 2017 https://www.uems.eu (accessed 8 September 2017).
Treaty of Rome, 2017 http://eur-lex.europa.eu/legal-content/CS/TXT/?uri=LEGISSUM:xy0023 (accessed 8 September 2017).
DIRECTIVE 2005/36/EC of the European Parliament and of the Council of 7 September 2005 on the recognition of professional qualifications Professional Qualifications Directive http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32005L0036&from=CS (accessed 8 September 2017).
OECD guidelines for quality assurance in molecular genetic testing, 2017 http://www.oecd.org/sti/biotech/38839788.pdf (accessed 8 September 2017).
Cassiman JJ: Research network: EuroGentest—a European Network of Excellence aimed at harmonizing genetic testing services. Eur J Hum Genet 2005; 13: 1103–1105. PubMed
Lwoff L2009. Council of Europe adopts protocol on genetic testing for health purposes. Eur J Hum Genet 2009; 17: 1374–1377. PubMed PMC
EU. Description of Clinical Genetics as a medical specialty in EU. Aims and objectives for specialist training. (2009; amended 2017) https://www.uems.eu/__data/assets/pdf_file/0007/47518/ETR_Clinical-Genetics_approved.pdf (accessed 8 September 2017).
National Human Genetics Societies (NHGS; European Society of Human Genetics), 2017 https://www.eshg.org/76.0.html (accessed 8 September 2017).
Council on Recommendation on an Action in the Field of Rare Diseases (2009/C151/02) http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF (accessed 8 September 2017).
European Society of Human Genetics. Genetics as Medical Specialty in Europe, 2017 https://www.eshg.org/index.php?id=111 (accessed 8 September 2017).
Commission Regulation (EU) No 213/2011 of 3 March 2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2011:059:0004:0007:EN:PDF (accessed 8 September 2017).
Section on Clinical Genetics – European Union of Medical Specialists. 2017 http://clinicalgenetics-uems.pte.hu/ (accessed 8 September 2017).
Héon-Klin V: European reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis 2017; 12: 137. PubMed PMC
Harris R, Reid M1997. Medical Genetic services in 31 countries: an overview. Eur J Hum Genet 1997; 5 (Suppl 2): 3–21. PubMed
Council of Europe, 2017 https://www.coe.int/en/web/portal/home (accessed 8 September 2017).
European Board of Medical Genetics (EBMG). 2017 https://www.eshg.org/413.0.html (accessed 8 September 2017).
Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients’ rights in cross-border healthcare http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32011L0024&from=EN (accessed 8 September 2017).