scholarly journals Essential Quality Analysis Criteria in Forensic Genetics Identification: A Position Statement of Italian Society of Human Genetics

2018 ◽  
Vol 12 (2) ◽  
Author(s):  
Emiliano Giardina
Keyword(s):  
Human Genetics ◽  
Forensic Genetics ◽  
Position Statement ◽  
Italian Society ◽  
Quality Analysis ◽  
Essential Quality

scholarly journals Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

2014 ◽  
Vol 17 (6) ◽  
pp. 578-583 ◽  
Author(s):  
Martin B. Delatycki ◽  
Jo Burke ◽  
Louise Christie ◽  
Felicity Collins ◽  
Michael Gabbett ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Human Genetics ◽  
Genetic Disorder ◽  
Position Statement ◽  
Population Based ◽  
Heterozygous Mutation ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Common Life ◽  
Cystic Fibrosis Transmembrane

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.

Vitamin D in patients with chronic kidney disease: a position statement of the Working Group “Trace Elements and Mineral Metabolism” of the Italian Society of Nephrology

2016 ◽  
Vol 29 (3) ◽  
pp. 305-328 ◽  
Author(s):  
Luigi Francesco Morrone ◽  
Pergiorgio Bolasco ◽  
Corrado Camerini ◽  
Giuseppe Cianciolo ◽  
Adamasco Cupisti ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Vitamin D ◽  
Trace Elements ◽  
Kidney Disease ◽  
Working Group ◽  
Mineral Metabolism ◽  
Position Statement ◽  
Italian Society
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