Literature DB >> 1937486

Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada).

M De Braekeleer1.   

Abstract

Saguenay-Lac-St-Jean is a geographically isolated region located in northeastern Quebec. Opened to the white settlement in 1938, its immigrants mainly came from Charlevoix, another isolated region of Quebec. The prevalence and/or incidence of several autosomal dominant and recessive disorders are very high. The overall birth prevalence of the recessive disorders was calculated at 1/207 living births and the overall carrier rate at 1/7 inhabitants. This situation may be explained by migration and social factors.

Entities:  

Mesh：

Year:  1991        PMID： 1937486     DOI： 10.1159/000153992

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


  26 in total

1.  A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

Authors:  N Lee; M J Daly; T Delmonte; E S Lander; F Xu; T J Hudson; G A Mitchell; C C Morin; B H Robinson; J D Rioux
Journal:  Am J Hum Genet       Date:  2001-01-10       Impact factor: 11.025

2.  Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Authors:  Francyne Kubaski; Yasuyuki Suzuki; Kenji Orii; Roberto Giugliani; Heather J Church; Robert W Mason; Vũ Chí Dũng; Can Thi Bich Ngoc; Seiji Yamaguchi; Hironori Kobayashi; Katta M Girisha; Toshiyuki Fukao; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-12-22       Impact factor: 4.797

Review 3.  Linkage disequilibrium as a gene-mapping tool.

Authors:  L B Jorde
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

4.  Cohort Profile: The Saguenay Youth Study (SYS).

Authors:  Zdenka Pausova; Tomas Paus; Michal Abrahamowicz; Manon Bernard; Daniel Gaudet; Gabriel Leonard; Michel Peron; G Bruce Pike; Louis Richer; Jean R Séguin; Suzanne Veillette
Journal:  Int J Epidemiol       Date:  2017-04-01       Impact factor: 7.196

5.  Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.

Authors:  Ahmed Reda; Ann Van Schepdael; Erwin Adams; Prasanta Paul; David Devolder; Mohamed A Elmonem; Koenraad Veys; Ingele Casteels; Lambertus van den Heuvel; Elena Levtchenko
Journal:  JIMD Rep       Date:  2017-12-07

Review 6.  New aspects of the pathogenesis of cystinosis.

Authors:  Vasiliki Kalatzis; Corinne Antignac
Journal:  Pediatr Nephrol       Date:  2003-02-27       Impact factor: 3.714

7.  Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.

Authors:  J T Wang; C J Lin; S M Burridge; G K Fu; M Labuda; A A Portale; W L Miller
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

8.  Opioid receptor mu 1 gene, fat intake and obesity in adolescence.

Authors:  A Haghighi; M G Melka; M Bernard; M Abrahamowicz; G T Leonard; L Richer; M Perron; S Veillette; C J Xu; C M T Greenwood; A Dias; A El-Sohemy; D Gaudet; T Paus; Z Pausova
Journal:  Mol Psychiatry       Date:  2013-01-22       Impact factor: 15.992

9.  Genes, maternal smoking, and the offspring brain and body during adolescence: design of the Saguenay Youth Study.

Authors:  Zdenka Pausova; Tomás Paus; Michal Abrahamowicz; Jason Almerigi; Nadine Arbour; Manon Bernard; Daniel Gaudet; Petr Hanzalek; Pavel Hamet; Alan C Evans; Michael Kramer; Luc Laberge; Susan M Leal; Gabriel Leonard; Jackie Lerner; Richard M Lerner; Jean Mathieu; Michel Perron; Bruce Pike; Alain Pitiot; Louis Richer; Jean R Séguin; Catriona Syme; Roberto Toro; Richard E Tremblay; Suzanne Veillette; Kate Watkins
Journal:  Hum Brain Mapp       Date:  2007-06       Impact factor: 5.038

10.  Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.

Authors:  M De Braekeleer; A Dallaire; J Mathieu
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.