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Items: 1 to 20 of 130

1.

Fertility in couples heterozygous for the tyrosinemia gene in Saguenay Lac-St-Jean.

De Braekeleer M, Lamarre V, Scriver CR, Larochelle J, Bouchard G.

Genet Couns. 1990;1(3-4):259-64.

PMID:
2098050
2.

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM.

N Engl J Med. 1994 Aug 11;331(6):353-7.

3.

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.

5.

Fertility in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective.

Dao TN, Mathieu J, Bouchard JP, De Braekeleer M.

Clin Genet. 1992 Nov;42(5):234-9.

PMID:
1486700
6.
7.

[Hereditary tyrosinemia and vitamin-dependent rickets in Saguenay. A genetic and demographic approach].

Bouchard G, Laberge C, Scriver CR.

Union Med Can. 1985 Aug;114(8):633-6. French. No abstract available.

PMID:
4060342
8.

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.

Kvittingen EA, Steinmann B, Gitzelmann R, Leonard JV, Andria G, Børresen AL, Mossman J, Micara G, Lindblad B.

Pediatr Res. 1985 Apr;19(4):334-7.

PMID:
4000758
9.

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.

PMID:
8935318
10.

Hereditary tyrosinemia type I--an overview.

Kvittingen EA.

Scand J Clin Lab Invest Suppl. 1986;184:27-34. Review.

PMID:
3296130
11.

Hereditary tyrosinemia in the province of Quebec: prevalence at birth and geographic distribution.

Bergeron P, Laberge C, Grenier A.

Clin Genet. 1974;5(2):157-62. No abstract available.

PMID:
4829425
13.

Reproductive attitudes of couples having a child with cystic fibrosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).

De Braekeleer M, Bellis G, Rault G, Allard C, Milot M, Simard F.

Ann Genet. 2000 Apr-Jun;43(2):93-7.

PMID:
10998451
14.
15.

Tyrosinemia: the Quebec experience.

Paradis K.

Clin Invest Med. 1996 Oct;19(5):311-6. Review.

PMID:
8889268
16.

Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective.

Dao TN, Mathieu J, Bouchard JP, De Braekeleer M.

Clin Genet. 1993 Jan;43(1):25-7.

PMID:
8462193
17.
18.

Tyrosinemia II: lessons in molecular pathophysiology.

Goldsmith LA.

Pediatr Dermatol. 1983 Jul;1(1):25-34. Review.

PMID:
6149527
20.

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.

PMID:
1524414

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