These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 8472930)

  • 1. Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec.
    De Braekeleer M; Giasson F; Mathieu J; Roy M; Bouchard JP; Morgan K
    Genet Epidemiol; 1993; 10(1):17-25. PubMed ID: 8472930
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Québec, Canada).
    Dionne C; Gagné C; Julien P; Murthy MR; Lambert M; Roederer G; Davignon J; Hayden MR; Lupien PJ; de Braekeleer M
    Ann Genet; 1992; 35(2):89-92. PubMed ID: 1524414
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Population genetics of hereditary hemochromatosis in Saguenay Lac-Saint-Jean (Quebec, Canada).
    de Braekeleer M; Vigneault A; Simard H
    Ann Genet; 1992; 35(4):202-7. PubMed ID: 1296515
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Richter A; Morgan K; Bouchard JP; Poirier J; Mercier J; Gosselin F; Melançon SB
    Adv Neurol; 1993; 61():97-103. PubMed ID: 8421971
    [No Abstract]   [Full Text] [Related]  

  • 5. Autosomal recessive disorders in Saguenay-Lac-St-Jean, Quebec: study of kinship.
    De Braekeleer M; Gauthier S
    Hum Biol; 1996 Jun; 68(3):371-81. PubMed ID: 8935318
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
    Engert JC; Bérubé P; Mercier J; Doré C; Lepage P; Ge B; Bouchard JP; Mathieu J; Melançon SB; Schalling M; Lander ES; Morgan K; Hudson TJ; Richter A
    Nat Genet; 2000 Feb; 24(2):120-5. PubMed ID: 10655055
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Population genetics of vitamin D-dependent rickets in northeastern Quebec.
    De Braekeleer M; Larochelle J
    Ann Hum Genet; 1991 Oct; 55(4):283-90. PubMed ID: 1687883
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.
    Engert JC; Doré C; Mercier J; Ge B; Bétard C; Rioux JD; Owen C; Bérubé P; Devon K; Birren B; Melançon SB; Morgan K; Hudson TJ; Richter A
    Genomics; 1999 Dec; 62(2):156-64. PubMed ID: 10610707
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.
    De Braekeleer M; Dallaire A; Mathieu J
    Hum Genet; 1993 Apr; 91(3):223-7. PubMed ID: 8386695
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel compound heterozygous mutations in sacsin-related ataxia.
    Yamamoto Y; Hiraoka K; Araki M; Nagano S; Shimazaki H; Takiyama Y; Sakoda S
    J Neurol Sci; 2005 Dec; 239(1):101-4. PubMed ID: 16198375
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Geographic distribution of 18 autosomal recessive disorders in the French Canadian population of Saguenay-Lac-Saint-Jean, Quebec.
    De Braekeleer M
    Ann Hum Biol; 1995; 22(2):111-22. PubMed ID: 7618852
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.
    De Braekeleer M; Larochelle J
    Am J Hum Genet; 1990 Aug; 47(2):302-7. PubMed ID: 2378355
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).
    Daigneault J; Aubin G; Simard F; De Braekeleer M
    Clin Genet; 1991 Oct; 40(4):298-303. PubMed ID: 1756602
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G; Lalani I; Amouri R; Turki I; Ouahchi K; Hung WY; Belal S; Siddique T; Hentati F
    Arch Neurol; 2003 Jul; 60(7):982-8. PubMed ID: 12873855
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Mercier J; Prévost C; Engert JC; Bouchard JP; Mathieu J; Richter A
    Genet Test; 2001; 5(3):255-9. PubMed ID: 11788093
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
    Grieco GS; Malandrini A; Comanducci G; Leuzzi V; Valoppi M; Tessa A; Palmeri S; Benedetti L; Pierallini A; Gambelli S; Federico A; Pierelli F; Bertini E; Casali C; Santorelli FM
    Neurology; 2004 Jan; 62(1):103-6. PubMed ID: 14718707
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): a study of inbreeding.
    De Braekeleer M; Gauthier S
    Ann Hum Genet; 1996 Jan; 60(1):51-6. PubMed ID: 8835098
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families.
    Gücüyener K; Ozgül K; Paternotte C; Erdem H; Prud'homme JF; Ozgüç M; Topaloğlu H
    Neuropediatrics; 2001 Jun; 32(3):142-6. PubMed ID: 11521210
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.
    Richter A; Rioux JD; Bouchard JP; Mercier J; Mathieu J; Ge B; Poirier J; Julien D; Gyapay G; Weissenbach J; Hudson TJ; Melançon SB; Morgan K
    Am J Hum Genet; 1999 Mar; 64(3):768-75. PubMed ID: 10053011
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diversity of ARSACS mutations in French-Canadians.
    Thiffault I; Dicaire MJ; Tetreault M; Huang KN; Demers-Lamarche J; Bernard G; Duquette A; Larivière R; Gehring K; Montpetit A; McPherson PS; Richter A; Montermini L; Mercier J; Mitchell GA; Dupré N; Prévost C; Bouchard JP; Mathieu J; Brais B
    Can J Neurol Sci; 2013 Jan; 40(1):61-6. PubMed ID: 23250129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.