Larochelle J - Search Results

1

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.

Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F. Hechtman P, et al. Among authors: larochelle j. Hum Genet. 1992 Dec;90(4):402-6. doi: 10.1007/BF00220467. Hum Genet. 1992. PMID: 1483696

2

Population genetics of vitamin D-dependent rickets in northeastern Quebec.

De Braekeleer M, Larochelle J. De Braekeleer M, et al. Among authors: larochelle j. Ann Hum Genet. 1991 Oct;55(4):283-90. doi: 10.1111/j.1469-1809.1991.tb00855.x. Ann Hum Genet. 1991. PMID: 1687883

3

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

De Braekeleer M, Larochelle J. De Braekeleer M, et al. Among authors: larochelle j. Am J Hum Genet. 1990 Aug;47(2):302-7. Am J Hum Genet. 1990. PMID: 2378355 Free PMC article.

4

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer M. Morin C, et al. Among authors: larochelle j. Am J Hum Genet. 1993 Aug;53(2):488-96. Am J Hum Genet. 1993. PMID: 8392291 Free PMC article.

5

Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.

Poudrier J, St-Louis M, Lettre F, Gibson K, Prévost C, Larochelle J, Tanguay RM. Poudrier J, et al. Among authors: larochelle j. Prenat Diagn. 1996 Jan;16(1):59-64. doi: 10.1002/(SICI)1097-0223(199601)16:1<59::AID-PD810>3.0.CO;2-D. Prenat Diagn. 1996. PMID: 8821854

6

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

De Braekeleer M, Lamarre V, Scriver CR, Larochelle J, Bouchard G. De Braekeleer M, et al. Among authors: larochelle j. Genet Couns. 1990;1(3-4):259-64. Genet Couns. 1990. PMID: 2098050

7

Liver transplantation for hereditary tyrosinemia: the Quebec experience.

Paradis K, Weber A, Seidman EG, Larochelle J, Garel L, Lenaerts C, Roy CC. Paradis K, et al. Among authors: larochelle j. Am J Hum Genet. 1990 Aug;47(2):338-42. Am J Hum Genet. 1990. PMID: 2378360 Free PMC article.

8

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

Larochelle J, Alvarez F, Bussières JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melançon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA. Larochelle J, et al. Mol Genet Metab. 2012 Sep;107(1-2):49-54. doi: 10.1016/j.ymgme.2012.05.022. Epub 2012 Jul 13. Mol Genet Metab. 2012. PMID: 22885033

9

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM. Poudrier J, et al. Among authors: larochelle j. Mol Genet Metab. 1998 Jun;64(2):119-25. doi: 10.1006/mgme.1998.2695. Mol Genet Metab. 1998. PMID: 9705236

10

Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate.

Scriver CR, Larochelle J, Silverberg M. Scriver CR, et al. Among authors: larochelle j. Am J Dis Child. 1967 Jan;113(1):41-6. doi: 10.1001/archpedi.1967.02090160091008. Am J Dis Child. 1967. PMID: 6016174 No abstract available.

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