O. Vierimaa

发表

Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene

R. Paschke, L. Aaltonen, P. Vahteristo, 2006, Science.

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

A. Ouweland, M. Goedbloed, F. Jansen, 2009, European Journal of Human Genetics.

ACTA UNIVERSITATIS OULUENSIS D Medica 973

O. Vierimaa, 2008 .

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

M. Savontaus, S. Kaakkola, O. Vierimaa, 2000, Annals of neurology.

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.

L. Ala‐Kokko, O. Vierimaa, U. Seppänen, 2000, American journal of medical genetics.

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition

L. Aaltonen, C. Larsson, P. Vahteristo, 2009 .

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

R. Paschke, L. Aaltonen, P. Chanson, 2010, The Journal of clinical endocrinology and metabolism.

Mutations and Pituitary Adenomas: An International Collaborative Study AIP Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line

R. Paschke, L. Aaltonen, P. Chanson, 2010 .

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

R. Paschke, L. Aaltonen, P. Chanson, 2010, The Journal of clinical endocrinology and metabolism.

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

A. Paetau, L. Aaltonen, R. Houlston, 2002, Nature Genetics.

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

R. Spritz, Koji Suzuki, H. Miyajima, 2002, American journal of medical genetics.

Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations.

T. Ebeling, P. Salmela, O. Vierimaa, 2004, The Journal of clinical endocrinology and metabolism.

Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland

C. Larsson, B. Teh, T. Ebeling, 2001, Journal of medical genetics.

Increased risk of cancer in patients with fumarate hydratase germline mutation

L. Aaltonen, K. Aittomäki, P. Koivisto, 2005, Journal of Medical Genetics.

Inherited susceptibility to uterine leiomyomas and renal cell cancer

L. Aaltonen, P. Sistonen, S. Roth, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.

L. Aaltonen, K. Aittomäki, P. Sistonen, 2001, The American journal of pathology.

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.

L. Aaltonen, C. Larsson, P. Vahteristo, 2009, Journal of endocrinological investigation.

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

Louise Izatt, Marc Tischkowitz, Anneke Lucassen, 2007, The Journal of clinical endocrinology and metabolism.

Extensive somatic microsatellite mutations in normal human tissue.

L. Aaltonen, D. Shibata, M. Pöyhönen, 2001, Cancer research.

Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

T. Dwight, C. Larsson, B. Teh, 2002, European journal of endocrinology.

Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

L. Niskanen, E. Korpi-hyövälti, T. Ebeling, 2007, European journal of endocrinology.

Large genomic deletions in AIP in pituitary adenoma predisposition.

Louise Izatt, Marc Tischkowitz, Anneke Lucassen, 2008, The Journal of clinical endocrinology and metabolism.

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

Jan Lubinski, Mercedes Robledo, Grzegorz Zielinski, 2007, Proceedings of the National Academy of Sciences.

The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas.

Markus Mäkinen, Johanna Arola, Auli Karhu, 2009, The American journal of pathology.

Large genomic rearrangements and germline epimutations in Lynch syndrome

M. Ridanpää, K. Aittomäki, C. Wallgren‐Pettersson, 2009, International journal of cancer.

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome

Ignacio Blanco, Kristiina Aittomäki, Rainer Lehtonen, 2010, Familial Cancer.

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Stephen B Gruber, Kristiina Aittomäki, Charis Eng, 2008, Cancer genetics and cytogenetics.

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

L. Aaltonen, E. Bonora, P. Vahteristo, 2009, Journal of endocrinological investigation.

Large genomic rearrangements and germline epimutations in Lynch syndrome

M. Ridanpää, K. Aittomäki, C. Wallgren‐Pettersson, 2009, International journal of cancer.