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Lidia Kasprzak

McGill University

13

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194

Citations

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A survey of APC mutations in Quebec.

2011 Familial Cancer
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The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone.

2006 Familial Cancer
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Multiple primary malignancies in a patient with situs ambiguus

2006 Clinical Genetics
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Invasive breast cancer following bilateral subcutaneous mastectomy in a BRCA2 mutation carrier: a case report and review of the literature

2005 World Journal of Surgical Oncology
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Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families

2004 Clinical Genetics
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Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

2001 Journal of Medical Genetics
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Citations (45)
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer

1998 Clinical Genetics
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Citations (9)
Deletion of 22q11 in two brothers with different phenotype

1998 American Journal of Medical Genetics
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Citations (29)
Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma

1997 American Journal of Medical Genetics
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Citations (5)