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Community genetics - Course files

Course file - Author(s) References, relevant online documents and resources
Community genetics module - Part 1
Introduction to the module of community genetics - Hamamy H (presentation with audio)

Introduction to the module of community genetics - Hamamy H (PDF)
Introduction to basic human genetics - Hamamy H WHO. Birth defects. Report by the Secretariat. Geneva: WHO; 2010.
Unifactorial or single gene disorders -Hamamy H GeneTests

Genome.gov | Talking Glossary: "Recessive"

Illustrated Glossary -- GeneReviews -- NCBI Bookshelf

OMIM - Online Mendelian Inheritance in Man

What are the different ways in which a genetic condition can be inherited? - Genetics Home Reference
Medical family history: tools for your practice - National Coalition for Health Professional Education in Genetics, National Society of Genetic Counselors National Coalition for Health Professional Education in Genetics

National Society of Genetic Counselors
Basic human genetics: reproductive health and chromosome abnormalities - Hamamy H Down syndrome: prenatal screening and diagnosis : Guidelines, reviews

Sex differentiation disorders : Guidelines, reviews
Cytogenetics, chromosomal genetics - Dahoun S Chromosomal Banding - Chromosome Banding Techniques
Multifactorial or polygenic inheritance - Hamamy H  
Community genetics module - Part 2
Genetic counseling - Hamamy H Forrest LE, Delatycki MB, Skene L, Aitken M. Communicating genetic information in families--a review of guidelines and position papers. Eur. J. Hum. Genet [Internet]. 2007 Jun [cited 2010 Sep 21];15(6):612-8.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur. J. Hum. Genet [Internet]. 2008 Oct [cited 2010 Sep 21];16(10):1208-16.

Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H. What is ideal genetic counselling? A survey of current international guidelines. Eur. J. Hum. Genet [Internet]. 2008 Apr [cited 2010 Sep 21];16(4):445-52.
Ethical issues in medical genetics and genetic services - Hamamy H Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur. J. Hum. Genet [Internet]. 2009 Jun [cited 2010 Sep 21];17(6):711-9.

WHO. Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services. Report of WHO Meeting. Geneva: WHO; 1998.

WHO. Review of ethical issues in medical genetics. Geneva: WHO; 2003.
Consanguineous marriages. Trends, impact on reproductive health and research priorities - Hamamy H Bittles AH, Black ML. Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc. Natl. Acad. Sci. U.S.A [Internet]. 2010 Jan 26 [cited 2010 Aug 24];107 Suppl 11779-86.

Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA. Consanguinity and reproductive health among Arabs. Reprod Health [Internet]. 2009 [cited 2010 Aug 24];617.

Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ [Internet]. 2006 Oct 21 [cited 2010 Aug 24];333(7573):831-4.

Hamamy H, Alwan A. Hereditary disorders in the Eastern Mediterranean Region. Bull. World Health Organ [Internet]. 1994 [cited 2010 Aug 24];72(1):145-54.

Shami SA, Schmitt LH, Bittles AH. Consanguinity related prenatal and postnatal mortality of the populations of seven Pakistani Punjab cities. J. Med. Genet [Internet]. 1989 Apr [cited 2010 Aug 24];26(4):267-71.

Devi AR, Rao NA, Bittles AH. Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India. J. Med. Genet [Internet]. 1987 Jun [cited 2010 Aug 24];24(6):362-5.
Basic concepts in dysmorphology - Temtamy S, Aglan M London Medical Databases

OMIM - Online Mendelian Inheritance in Man

Principles of population genetics - ten Kate LP Godard B, ten Kate L, Evers-Kiebooms G, Aymé S. Population genetic screening programmes: principles, techniques, practices, and policies. Eur. J. Hum. Genet [Internet]. 2003 Dec [cited 2010 Jul 24];11 Suppl 2S49-87.

Population genetic screening programmes: technical, social and ethical issues. Eur. J. Hum. Genet [Internet]. 2003 Dec [cited 2010 Jul 24];11(12):903-5.
Periconception care and primary prevention of neural-tube defects and other congenital abnormalities by periconceptional folic acid/ multivitamin supplementation - Czeizel A Blencowe H, Cousens S, Modell B, Lawn J. Folic acid to reduce neonatal mortality from neural tube disorders. Int J Epidemiol [Internet]. 2010 Apr [cited 2010 Oct 8];39 Suppl 1:i110-21.
Community genetics module - Part 3
Community genetics - Hamamy H Ten Kate LP, Al-Gazali L, Anand S, Bittles A, Cassiman J, Christianson A, Cornel MC, Hamamy H, Kääriäinen H, Kristoffersson U, Marais D, Penchaszadeh VB, Rahman P, Schmidtke J. Community genetics. Its definition 2010. J Community Genet [Internet]. 2010 3 [cited 2010 Jul 22];1(1):19-22.
Primary prevention of congenital disorders - Hamamy H  
Epidemiology, care and prevention of hemoglobinopathies - Al-Allawi N Al-Allawi NA, Al-Dousky AA. Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme. Eastern Mediterranean health journal [Internet]. 2010 Apr [cited 2010 Jul 16];16(4):381-5.

Hamamy H, Al-Hait S, Alwan A. Strategies for low and medium resource countries in the community care and prevention of birth defects: Jordan model. A proposal for a national strategy on the care and prevention of birth defects in Jordan. Geneva Foundation for Medical Education and Research [Internet]. 2009 Aug 27 [cited 2010 Jul 16].

Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull. World Health Organ [Internet]. 2008 Jun [cited 2010 Jul 16];86(6):480-7.

WHO. Management of haemoglobin disorders: report of a joint WHO-TIF meeting, Nicosia, Cyprus, 16–18 November 2007 [Internet]. Geneva: World Health Organization, 2008 [cited 2010 Jul 16].
Thalassemia prevention: screening and prenatal diagnostic approaches - Kleanthous M Thalassaemia International Federation

Thalassemia : Guidelines, reviews

WHO | Global applications of genomics in healthcare: Cyprus/Sardinia
Rational for birth defect registry, surveillance and monitoring based on the Hungarian experiences - Czeizel A

Self-poisoning during pregnancy as a model for teratogenic risk estimation of drugs. Disaster epidemiology - Czeizel A
Polifka JE, Friedman JM. Medical genetics: 1. Clinical teratology in the age of genomics. CMAJ [Internet]. 2002 Aug 6 [cited 2010 Oct 8];167(3):265-73.

The Teratology Society. Teratology Primer, Second Edition. [Internet]. 2010 [cited 2010 Oct 8].
Prenatal genetic screening and diagnosis - Hamamy H Prenatal Genetics — Mount Sinai Hospital

The Genetics Education Project. Comparison of Prenatal Screening Tests for the Detection of Down Syndrome. Mount Sinai Hospital [Internet]. 2006 Feb [cited 2010 Sep 27].

The Genetics Education Project. Reference Guide for Health Care Providers. Prenatal Screening Tests for the Detection of: Down Syndrome, Trisomy 18 and Open Neural Tube Defects. Mount Sinai Hospital [Internet]. 2007 Aug [cited 2010 Sep 21].

Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal. Diagn. Ther [Internet]. 2010 [cited 2010 Sep 21];27(1):1-7.