• 45551 Citations
  • 100 Scopus h-Index
1978 …2021
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Research Output 1978 2019

  • 45551 Citations
  • 100 Scopus h-Index
  • 491 Article
  • 4 Chapter
  • 4 Comment/debate
  • 1 Review article
2000
79 Citations (Scopus)

Iron overload in cirrhosis - HFE genotypes and outcome after liver transplantation

Brandhagen, D. J., Alvarez, W., Therneau, T. M., Kruckeberg, K. E., Thibodeau, S. N., Ludwig, J. & Porayko, M. K., 2000, In : Hepatology. 31, 2, p. 456-460 5 p.

Research output: Contribution to journalArticle

Iron Overload
Liver Transplantation
Fibrosis
Genotype
Liver
50 Citations (Scopus)

Isolated supravalvular aortic stenosis: Functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Urbán, Z., Michels, V. V., Thibodeau, S. N., Davis, E. C., Bonnefont, J. P., Munnich, A., Eyskens, B., Gewillig, M., Devriendt, K. & Boyd, C. D., 2000, In : Human Genetics. 106, 6, p. 577-588 12 p.

Research output: Contribution to journalArticle

Supravalvular Aortic Stenosis
Haploinsufficiency
Elastin
Nonsense Codon
Mutation
80 Citations (Scopus)

Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer

Berry, R., Schaid, D. J., Smith, J. R., French, A. J., Schroeder, J. J., McDonnell, S. K., Peterson, B. J., Wang, Z. Y., Carpten, J. D., Roberts, S. G., Tester, D. J., Blute, M. L., Trent, J. M. & Thibodeau, S. N., 2000, In : American Journal of Human Genetics. 66, 2, p. 539-546 8 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 1
Prostatic Neoplasms
Brain Neoplasms
Inborn Genetic Diseases
Microsatellite Repeats
76 Citations (Scopus)

Microsatellite instability and hMLH1/hMSH2 expression in young endometrial carcinoma patients: Associations with family history and histopathology

Parc, Y. R., Halling, K. C., Burgart, L. J., Mcdonnel, S. K., Schaid, D. J., Thibodeau, S. N. & Halling, A. C., 2000, In : International Journal of Cancer. 86, 1, p. 60-66 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Endometrial Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms
Proteins
388 Citations (Scopus)

Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling

Liu, W., Dong, X., Mai, M., Seelan, R. S., Taniguchi, K., Krishnadath, K. K., Halling, K. C., Cunningham, J. M., Qian, C., Christensen, E., Roche, P. C., Smith, D. I. & Thibodeau, S. N., Oct 2000, In : Nature Genetics. 26, 2, p. 146-147 2 p.

Research output: Contribution to journalArticle

23 Citations (Scopus)

Prevalence and clinical significance of HFE gene mutations in patients with iron overload

Brandhagen, D. J., Fairbanks, V. F., Baldus, W. P., Smith, C. I., Kruckeberg, K. E., Schaid, D. J. & Thibodeau, S. N., 2000, In : American Journal of Gastroenterology. 95, 10, p. 2910-2914 5 p.

Research output: Contribution to journalArticle

Iron Overload
Mutation
Genes
Siblings
Iron
1999
84 Citations (Scopus)

Alpha1-antitrypsin deficiency allele carriers among lung cancer patients

Yang, P., Wentzlaff, K. A., Katzmann, J. A., Marks, R. S., Allen, M. S., Lesnick, T. G., Lindor, N. M., Myers, J. L., Wiegert, E., Midthun, D. E., Thibodeau, S. N. & Krowka, M. J., May 1999, In : Cancer Epidemiology Biomarkers and Prevention. 8, 5, p. 461-465 5 p.

Research output: Contribution to journalArticle

Lung Neoplasms
Alleles
Chronic Obstructive Pulmonary Disease
Protease Inhibitors
Epithelial Cells
93 Citations (Scopus)

Correspondence re: C. R. Boland et al., A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: Development of International Criteria for the Determination of Microsatellite Instability in Colorectal Cancer. Cancer Res., 58: 5248- 5257, 1998 (multiple letters)

Perucho, M., Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Burr, R. W., Meltzer, A. J., Rodriguez-Bigas, M. A., Fodde, R., Ranzani, G. N. & Srivastava, S., Jan 1 1999, In : Cancer Research. 59, 1, p. 249-256 8 p.

Research output: Contribution to journalArticle

Neoplasm DNA
Satellite DNA
Microsatellite Instability
National Cancer Institute (U.S.)
Genetic Predisposition to Disease

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability; Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma

Cunningham, J. M., Christensen, E. R., Tester, D. J., Kim, C. Y., Roche, P. C., Burgart, L. J., Thibodeau, S. N., Herman, J. G., Umar, A., Polyak, J., Graff, J. R., Ahuja, N., Issa, J. P., Markowitz, S., Willson, J. K., Hamilton, S. R., Kinzler, K. W., Kane, M. F., Kolodner, R. D., Vogelstein, B. & 3 others, Kunkel, T. A., Baylin, S. B. & Strauss, B. S., 1999, In : Chemtracts. 12, 10, p. 708-713 6 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Identification of the molecular genetic defect of patients with methemoglobin M Kankakee (M-Iwate), α87 (F8) His → Tyr: Evidence for an electrostatic model of αM hemoglobin assembly

Ameri, A., Fairbanks, V. F., Yanik, G. A., Mahdi, F., Thibodeau, S. N., Mc Cormick, D. J., Boxer, L. A. & McDonagh, K. T., Sep 1 1999, In : Blood. 94, 5, p. 1825-1826 2 p.

Research output: Contribution to journalArticle

Hemoglobin M
Methemoglobin
Globins
Static Electricity
Molecular Biology
337 Citations (Scopus)

Microsatellite instability and 8p allelic imbalance in stage B2 and C colorectal cancers

Halling, K. C., French, A. J., McDonnell, S. K., Burgart, L. J., Schaid, D. J., Peterson, B. J., Moon-Tasson, L., Mahoney, M. R., Sargent, D. J., O'Connell, M. J., Witzig, T. E., Farr, G. H., Goldberg, R. M. & Thibodeau, S. N., Aug 4 1999, In : Journal of the National Cancer Institute. 91, 15, p. 1295-1303 9 p.

Research output: Contribution to journalArticle

Allelic Imbalance
Microsatellite Instability
Colorectal Neoplasms
Survival
Recurrence
125 Citations (Scopus)

Origin of microsatellite instability in gastric cancer

Halling, K. C., Harper, J., Moskaluk, C. A., Thibodeau, S. N., Petroni, G. R., Yustein, A. S., Tosi, P., Minacci, C., Roviello, F., Piva, P., Hamilton, S. R., Jackson, C. E. & Powell, S. M., 1999, In : American Journal of Pathology. 155, 1, p. 205-211 7 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Stomach Neoplasms
Neoplasms
Stomach
Carcinoma
105 Citations (Scopus)

Preclinical memory decline in cognitively normal apolipoprotein E-ε4 homozygotes

Caselli, R. J., Graff Radford, N. R., Reiman, E. M., Weaver, A., Osborne, D., Lucas, J. A., Uecker, A. & Thibodeau, S. N., Jul 13 1999, In : Neurology. 53, 1, p. 201-207 7 p.

Research output: Contribution to journalArticle

Apolipoprotein E4
Homozygote
Heterozygote
Short-Term Memory
Outcome Assessment (Health Care)
2 Citations (Scopus)

Refined gene localization for MRX7 [6]

Tackels, D., Schwartz, C. E., Thibodeau, S. N. & Michels, V. V., 1999, In : American Journal of Medical Genetics. 85, 3, p. 288-289 2 p.

Research output: Contribution to journalArticle

Lod Score
Genetic Linkage
Family Health
Chromosome Mapping
X Chromosome
95 Citations (Scopus)

Representative cDNA libraries and their utility in gene expression profiling

Endege, W. O., Steinmann, K. E., Boardman, L. A., Thibodeau, S. N. & Schlegel, R., 1999, In : BioTechniques. 26, 3, p. 542-550 9 p.

Research output: Contribution to journalArticle

Gene Expression Profiling
Gene Library
Gene expression
Complementary DNA
RNA
40 Citations (Scopus)

Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

Urbán, Z., Michels, V. V., Thibodeau, S. N., Donis-Keller, H., Csiszár, K. & Boyd, C. D., 1999, In : Human Genetics. 104, 2, p. 135-142 8 p.

Research output: Contribution to journalArticle

Supravalvular Aortic Stenosis
Elastin
Mutation
Exons
Messenger RNA
19 Citations (Scopus)

Update on hereditary hemochromatosis and the HFE gene

Brandhagen, D. J., Fairbanks, V. F., Batts, K. P. & Thibodeau, S. N., 1999, In : Mayo Clinic Proceedings. 74, 9, p. 917-921 5 p.

Research output: Contribution to journalArticle

Hemochromatosis
Genes
Fibrosis
Phlebotomy
Intestinal Absorption
1998
546 Citations (Scopus)

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y. S. & Keating, M. T., May 1 1998, In : Science. 280, 5364, p. 750-752 3 p.

Research output: Contribution to journalArticle

Dilated Cardiomyopathy
Actins
Heart Failure
Mutation
Dystrophin
3235 Citations (Scopus)

A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer

Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., Meltzer, S. J., Rodriguez-Bigas, M. A., Fodde, R., Ranzani, G. N. & Srivastava, S., Nov 15 1998, In : Cancer Research. 58, 22, p. 5248-5257 10 p.

Research output: Contribution to journalArticle

Microsatellite Instability
National Cancer Institute (U.S.)
Colorectal Neoplasms
Education
Neoplasms
41 Citations (Scopus)

A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family

Ackerman, M. J., Schroeder, J. J., Berry, R., Schaid, D. J., Porter, C. B. J., Michels, V. V. & Thibodeau, S. N., Aug 1998, In : Pediatric Research. 44, 2, p. 148-153 6 p.

Research output: Contribution to journalArticle

Near Drowning
Long QT Syndrome
Mutation
Electrocardiography
Genotype
52 Citations (Scopus)

Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease

O'Sullivan, D. A., Torres, V., Gabow, P. A., Thibodeau, S. N., King, B. F. & Bergstralh, E. J., 1998, In : American Journal of Kidney Diseases. 32, 6, p. 976-983 8 p.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Cystic Fibrosis
Kidney
Cysts
Fluids and Secretions
226 Citations (Scopus)

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

Liu, W., Smith, D. I., Rechtzigel, K. J., Thibodeau, S. N. & James, C. D., Mar 15 1998, In : Nucleic Acids Research. 26, 6, p. 1396-1400 5 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
High Pressure Liquid Chromatography
Mutation
Oncogenes
Cystic Fibrosis Transmembrane Conductance Regulator
2 Citations (Scopus)

DNA sequence analysis proves Hb M-Milwaukee-2 is due to β-globin gene codon 92 (CAC→TAC), the presumed mutation of Mb M-Hyde park and Hb M-Akita

Hutt, P. J., Pisciotta, A. V., Fairbanks, V. F., Thibodeau, S. N. & Green, M. M., 1998, In : Hemoglobin. 22, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

Globins
DNA sequences
DNA Sequence Analysis
Codon
Genes
365 Citations (Scopus)

Evidence for a prostate cancer susceptibility locus on the X chromosome

Xu, J., Meyers, D., Freije, D., Isaacs, S., Wiley, K., Nusskern, D., Ewing, C., Wilkens, E., Bujnovszky, P., Steven Bova, G., Walsh, P., Isaacs, W., Schleutker, J., Matikainen, M., Tammela, T., Visakorpi, T., Kallioniemi, O. P., Berry, R., Schaid, D. J., French, A. & 23 others, McDonnell, S., Schroeder, J., Blute, M., Thibodeau, S. N., Grönberg, H., Emanuelsson, M., Damber, J. E., Bergh, A., Jonsson, B. A., Smith, J., Bailey-Wilson, J., Carpten, J., Stephan, D., Gillanders, E., Amundson, I., Kainu, T., Freas-Lutz, D., Baffoe-Bonnie, A., Van Aucken, A., Sood, R., Collins, F., Brownstein, M. & Trent, J., 1998, In : Nature Genetics. 20, 2, p. 175-179 5 p.

Research output: Contribution to journalArticle

X Chromosome
Prostatic Neoplasms
Genetic Loci
Genetic Heterogeneity
Neoplasm Genes
181 Citations (Scopus)

Evidence for autosomal dominant inheritance of prostate cancer

Schaid, D. J., McDonnell, S. K., Blute, M. L. & Thibodeau, S. N., Jun 1998, In : American Journal of Human Genetics. 62, 6, p. 1425-1438 14 p.

Research output: Contribution to journalArticle

Prostatic Neoplasms
Homozygote
Cluster Analysis
Dominant Genes
Genetic Heterogeneity
38 Citations (Scopus)

H63D is an haemochromatosis associated allele (multiple letters)

Fairbanks, V. F., Brandhagen, D. J., Thibodeau, S. N., Snow, K., Wollan, P. C., Worwood, M., Bowen, D. J., Burnett, A. K., Jackson, H. A., Lawless, S., Raha- Chowdhury, R., Shearman, J. D., Wallace, D. F., Dooley, J. S., Partridge, J., Walker, A. P., Bomford, A., Rosenberg, W. M. C., Merryweather-Clarke, A. T., Robson, K. J. H. & 3 others, Pointon, J. J., Powell, L. W. & Goldwurm, S., 1998, In : Gut. 43, 3, p. 441-442 2 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Hb Silver Springs [β131(H9)Gln→His], a new hemoglobin variant found in six African-Americans

Hoyer, J., Wick, M. J., Thibodeau, S. N., Kechteiger, K. S., Cook, J. D. & Fairbanks, V. F., 1998, In : Hemoglobin. 22, 1, p. 37-44 8 p.

Research output: Contribution to journalArticle

Codon
African Americans
Hemoglobins
Substitution reactions
High performance liquid chromatography
15 Citations (Scopus)

Hb Tak confirmed by DNA analysis: Not expressed as thalassemia in a Hb Tak/Hb E compound heterozygote

Hoyer, J., Wick, M. J., Thibodeau, S. N., Viker, K. A., Conner, R. & Fairbanks, V. F., 1998, In : Hemoglobin. 22, 1, p. 45-52 8 p.

Research output: Contribution to journalArticle

Thalassemia
Heterozygote
DNA
Elongation
Amino Acids
147 Citations (Scopus)

Hippocampal atrophy and apolipoprotein E genotype are independently associated with Alzheimer's disease

Jack, C. R. J., Petersen, R. C., Xu, Y. C., O'Brien, P. C., Waring, S. C., Tangalos, E. G., Smith, G. E., Ivnik, R. J., Thibodeau, S. N. & Kokmen, E., Mar 1998, In : Annals of Neurology. 43, 3, p. 303-310 8 p.

Research output: Contribution to journalArticle

Apolipoproteins E
Atrophy
Alzheimer Disease
Genotype
Apolipoprotein E4
200 Citations (Scopus)

Hippocampal volumes in cognitively normal persons at genetic risk for Alzheimer's disease

Reiman, E. M., Uecker, A., Caselli, R. J., Lewis, S., Bandy, D., De Leon, M. J., De Santi, S., Convit, A., Osborne, D., Weaver, A. & Thibodeau, S. N., Aug 1998, In : Annals of Neurology. 44, 2, p. 288-291 4 p.

Research output: Contribution to journalArticle

Alzheimer Disease
Homozygote
Positron-Emission Tomography
Magnetic Resonance Imaging
Apolipoprotein E4
708 Citations (Scopus)

Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability

Cunningham, J. M., Christensen, E. R., Tester, D. J., Kim, C. Y., Roche, P. C., Burgart, L. J. & Thibodeau, S. N., Aug 1 1998, In : Cancer Research. 58, 15, p. 3455-3460 6 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Colonic Neoplasms
Colorectal Neoplasms
Neoplasms
Microsatellite Repeats
340 Citations (Scopus)

Increased risk for cancer in patients with the Peutz-Jeghers syndrome

Boardman, L. A., Thibodeau, S. N., Schaid, D. J., Lindor, N. M., McDonnell, S. K., Burgart, L. J., Ahlquist, D. A., Podratz, K. C., Pittelkow, M. & Hartmann, L. C., Jun 1 1998, In : Annals of Internal Medicine. 128, 11, p. 896-899 4 p.

Research output: Contribution to journalArticle

Peutz-Jeghers Syndrome
Neoplasms
Breast Neoplasms
Gastrointestinal Neoplasms
Telephone
464 Citations (Scopus)

Microsatellite instability in colorectal cancer: Different mutator phenotypes and the principal involvement of hMLH1

Thibodeau, S. N., French, A. J., Cunningham, J. M., Tester, D., Burgart, L. J., Roche, P. C., McDonnell, S. K., Schaid, D. J., Vockley, C. W., Michels, V. V., Farr, G. H. & O'Connell, M. J., Apr 15 1998, In : Cancer Research. 58, 8, p. 1713-1718 6 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Colorectal Neoplasms
Phenotype
Neoplasms
Ploidies
3 Citations (Scopus)
Microsatellite Instability
Colorectal Neoplasms
Phenotype
DNA Mismatch Repair
Microsatellite Repeats
113 Citations (Scopus)

Reduced COX-2 protein in colorectal cancer with defective mismatch repair

Karnes, W. E., Shattuck-Brandt, R., Burgart, L. J., DuBois, R. N., Tester, D. J., Cunningham, J. M., Kim, C. Y., McDonnell, S. K., Schaid, D. J. & Thibodeau, S. N., Dec 1 1998, In : Cancer Research. 58, 23, p. 5473-5477 5 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Cyclooxygenase 2
Colorectal Neoplasms
Microsatellite Instability
Neoplasms
20 Citations (Scopus)

Rektumkarzinome bei HNPCC.

Translated title of the contribution: Rectal carcinomas in HNPCCMöslein, G., Nelson, H., Thibodeau, S. N. & Dozois, R. R., 1998, In : Langenbecks Archiv für Chirurgie. Supplement. Kongressband. Deutsche Gesellschaft für Chirurgie. Kongress. 115, p. 1467-1469 3 p.

Research output: Contribution to journalArticle

Rectal Neoplasms
Carcinoma
Colonic Pouches
Rectum
Colonic Neoplasms
7 Citations (Scopus)

Search for chromosome instability in lymphocytes with germ-line mutations in DNA mismatch repair genes

Lindor, N. M., Jalal, S. M., VanDeWalker, T. J., Cunningham, J. M., Dahl, R. J. & Thibodeau, S. N., Jul 1998, In : Cancer Genetics and Cytogenetics. 104, 1, p. 48-51 4 p.

Research output: Contribution to journalArticle

Chromosomal Instability
DNA Mismatch Repair
Germ-Line Mutation
Hereditary Nonpolyposis Colorectal Neoplasms
Lymphocytes
1997
9 Citations (Scopus)

Age-related disease penetrance in a large medullary thyroid cancer family with a codon 609 RET gene mutation

Halling, K. C., Bufill, J. A., Cotter, M., Artz, S. A., Betts Carpenter, A., Schaid, D. J., Hartman-Adams, H., Chang, H. H., Boustany, M. M., Fithian, L., Jhiang, S. M. & Thibodeau, S. N., 1997, In : Molecular Diagnosis. 2, 4, p. 277-286 10 p.

Research output: Contribution to journalArticle

Penetrance
Codon
Mutation
Multiple Endocrine Neoplasia Type 2a
Age of Onset
38 Citations (Scopus)

Allelic imbalance and microsatellite instability in resected Duke's D colorectal cancer

Kochhar, R., Halling, K. C., McDonnell, S., Schaid, D. J., French, A. J., O'Connell, M. J., Nagorney, D. M. & Thibodeau, S. N., Apr 1997, In : Diagnostic Molecular Pathology. 6, 2, p. 78-84 7 p.

Research output: Contribution to journalArticle

Allelic Imbalance
Microsatellite Instability
Colorectal Neoplasms
Liver
Neoplasm Metastasis
16 Citations (Scopus)

De novo 16p deletion: ATR-16 syndrome

Lindor, N. M., Valdes, M. G., Wick, M. J., Thibodeau, S. N. & Jalal, S., Nov 12 1997, In : American Journal of Medical Genetics. 72, 4, p. 451-454 4 p.

Research output: Contribution to journalArticle

Thalassemia
Globins
Chromosomes, Human, Pair 16
Chromosome Deletion
Densitometry
52 Citations (Scopus)

Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer

Goellner, G. M., Tester, D., Thibodeau, S. N., Almqvist, E., Goldberg, Y. P., Hayden, M. R. & McMurray, C. T., Apr 1997, In : American Journal of Human Genetics. 60, 4, p. 879-890 12 p.

Research output: Contribution to journalArticle

DNA Mismatch Repair
Huntington Disease
Colorectal Neoplasms
Germ Cells
Tandem Repeat Sequences
38 Citations (Scopus)

Genetic testing in medullary thyroid carcinoma syndromes: Mutation types and clinical significance

Heshmati, H. M., Gharib, H., Khosla, S., Abu-Lebdeh, H. S., Lindor, N. M. & Thibodeau, S. N., 1997, In : Mayo Clinic Proceedings. 72, 5, p. 430-436 7 p.

Research output: Contribution to journalArticle

Multiple Endocrine Neoplasia
Genetic Testing
Codon
Mutation
Germ-Line Mutation
11 Citations (Scopus)

Hb seal rock [(α2)142 term→Glow, Codon 142 TAA→GAA]: An extended α chain variant associated with Anemia, Microcytosis, and α-Thalassemia-2 (- 3.7 Kb)a

Merritt, D., Jones, R. T., Head, C., Thibodeau, S. N., Fairbanks, V. F., Steinberg, M. H., Coleman, M. B. & Rodgers, G. P., 1997, In : Hemoglobin. 21, 4, p. 331-344 14 p.

Research output: Contribution to journalArticle

Thalassemia
Codon
Anemia
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 2
19 Citations (Scopus)

Hb T-Cambodia, a β chain variant with the mutations of HB E and HB D- Punjab, confirmed by DNA analysis

Hutt, P. J., Fairbanks, V. F., Thibodeau, S. N., Green, M. M., Hoyer, J., Block, S. H., Day, C., Jones, R. T. & Barwick, R. C., 1997, In : Hemoglobin. 21, 3, p. 205-218 14 p.

Research output: Contribution to journalArticle

Globins
Electrophoresis
Codon
Mutation
DNA
653 Citations (Scopus)

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study

Peltomaki, P., Vasen, H. F. A., Bisgaard, M. L., Buerstedde, J. M., Friedl, W., Grandjouan, S., Hutter, P., Kohonen-Corish, M., Kolodner, R., Kurzawski, G., Lindblom, A., Lynch, H. T., Piepoli, A., De Leon, M. P., Radice, P., Thibodeau, S. N., Weber, W., West, S. & Wijnen, J., 1997, In : Gastroenterology. 113, 4, p. 1146-1158 13 p.

Research output: Contribution to journalArticle

Hereditary Nonpolyposis Colorectal Neoplasms
Databases
Mutation
DNA Mismatch Repair
Exons
18 Citations (Scopus)

Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma

Siegelman, M., Mohabeer, A., Fahey, T. J., Tomlinson, G., Mayambala, C., Jafari, S., Noll, W. W., Thibodeau, S. N. & Dawson, D. B., 1997, In : Clinical Chemistry. 43, 3, p. 453-457 5 p.

Research output: Contribution to journalArticle

Multiple Endocrine Neoplasia
Exons
Screening
Mutation
Polymerase chain reaction
24 Citations (Scopus)

The genomic organization of human dystrobrevin

Sadoulet-Puccio, H. M., Feener, C. A., Schaid, D. J., Thibodeau, S. N., Michels, V. V. & Kunkel, L. M., 1997, In : Neurogenetics. 1, 1, p. 37-42 6 p.

Research output: Contribution to journalArticle

Dystrophin-Associated Proteins
Dystrophin
Exons
Maintenance
Electric Organ
1996
34 Citations (Scopus)

Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability

Lim, P. C., Tester, D., Cliby, W. A., Ziesmer, S. C., Roche, P. C., Hartmann, L., Thibodeau, S. N., Podratz, K. C. & Jenkins, R. B., Nov 1996, In : Clinical Cancer Research. 2, 11, p. 1907-1911 5 p.

Research output: Contribution to journalArticle

Microsatellite Instability
DNA Mismatch Repair
Mutation
Endometrial Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
163 Citations (Scopus)

Allelic imbalance and microsatellite instability in prostatic adenocarcinoma

Cunningham, J. M., Shan, A., Wick, M. J., McDonnell, S. K., Schaid, D. J., Tester, D. J., Qian, J., Takahashi, S., Jenkins, R. B., Bostwick, D. G. & Thibodeau, S. N., Oct 1 1996, In : Cancer Research. 56, 19, p. 4475-4482 8 p.

Research output: Contribution to journalArticle

Allelic Imbalance
Microsatellite Instability
Adenocarcinoma
Chromosomes, Human, Pair 16
Tumor Suppressor Genes
470 Citations (Scopus)

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

Thibodeau, S. N., French, A. J., Roche, P. C., Cunningham, J. M., Tester, D. J., Lindor, N. M., Moslein, G., Baker, S. M., Liskay, R. M., Burgart, L. J., Honchel, R. & Halling, K. C., Nov 1 1996, In : Cancer Research. 56, 21, p. 4836-4840 5 p.

Research output: Contribution to journalArticle

Microsatellite Instability
DNA Mismatch Repair
Mutation
Genes
Neoplasms