• 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
1993
108 Citations (Scopus)

The application of fluorescent in situ hybridization to detect Mbcr/abl fusion in variant Ph chromosomes in CML and ALL

Dewald, G. W., Schad, C. R., Christensen, E. R., Tiede, A. L., Zinsmeister, A. R., Spurbeck, J. L., Thibodeau, S. N. & Jalal, S. M., 1993, In : Cancer Genetics and Cytogenetics. 71, 1, p. 7-14 8 p.

Research output: Contribution to journalArticle

Fluorescence In Situ Hybridization
Chromosomes
Interphase
Metaphase
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
1992
45 Citations (Scopus)

A genetic review of complete and partial hydatidiform moles and nonmolar triploidy

Lindor, N. M., Ney, J. A., Gaffey, T. A., Jenkins, R. B., Thibodeau, S. N. & Dewald, G. W., 1992, In : Mayo Clinic Proceedings. 67, 8, p. 791-799 9 p.

Research output: Contribution to journalArticle

Triploidy
Hydatidiform Mole
Chromosomes
Mothers
Multiple Birth Offspring
16 Citations (Scopus)

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9

Snow, K., Doud, L., Hagerman, R., Hull, C., Hirst, M. C., Davies, K. E. & Thibodeau, S. N., 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 244-254 11 p.

Research output: Contribution to journalArticle

DNA Probes
Fragile X Syndrome
Mutation
Chromosome Fragility
Insertional Mutagenesis
1500 Citations (Scopus)

APC mutations occur early during colorectal tumorigenesis

Powell, S. M., Zilz, N., Beazer-Barclay, Y., Bryan, T. M., Hamilton, S. R., Thibodeau, S. N., Vogelstein, B. & Kinzler, K. W., Sep 17 1992, In : Nature. 359, 6392, p. 235-237 3 p.

Research output: Contribution to journalArticle

Carcinogenesis
APC Genes
Mutation
Colorectal Neoplasms
Neoplasms
16 Citations (Scopus)

A study of aqueous humor formation in patients with cystic fibrosis

McCannel, C. A., Scanlon, P. D., Thibodeau, S. N. & Brubaker, R. F., 1992, In : Investigative Ophthalmology and Visual Science. 33, 1, p. 160-164 5 p.

Research output: Contribution to journalArticle

Chloride Channels
Aqueous Humor
Cystic Fibrosis
Timolol
Tears
85 Citations (Scopus)

Current status of adjuvant chemotherapy for colorectal cancer: Can molecular markers play a role in predicting prognosis?

O'Connell, M. J., Schaid, D. J., Ganju, V., Cunningham, J. M., Kovach, J. S. & Thibodeau, S. N., 1992, In : Cancer. 70, 6 SUPPL., p. 1732-1739 8 p.

Research output: Contribution to journalArticle

Adjuvant Chemotherapy
Colorectal Neoplasms
Loss of Heterozygosity
Neoplasms
Molecular Biology
26 Citations (Scopus)

Demonstration of clonality, by X-linked DNA analysis, in chronic natural killer cell lymphocytosis and successful therapy with oral cyclophosphamide

Tefferi, A., Greipp, P. R., Leibson, P. J. & Thibodeau, S. N., May 1992, In : Leukemia. 6, 5, p. 477-480 4 p.

Research output: Contribution to journalArticle

Lymphocytosis
Natural Killer Cells
Cyclophosphamide
DNA
T-Cell Receptor Genes
1 Citation (Scopus)

Exclusion of calcitonin/α-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis

Pastores, G. M., Michels, V. V., Schaid, D. J., Driscoll, D. J., Feldt, R. H. & Thibodeau, S. N., Jan 1992, In : Journal of Medical Genetics. 29, 1, p. 56-57 2 p.

Research output: Contribution to journalArticle

Supravalvular Aortic Stenosis
Lod Score
Dominant Genes
Calcitonin Gene-Related Peptide
Aortic Valve Stenosis
130 Citations (Scopus)

Expression of p53 and 17p allelic loss in colorectal carcinoma

Cunningham, J. M., Lust, J. A., Schaid, D. J., Bren, G. D., Carpenter, H. A., Rizza, E., Kovach, J. S. & Thibodeau, S. N., 1992, In : Cancer Research. 52, 7, p. 1974-1980 7 p.

Research output: Contribution to journalArticle

Loss of Heterozygosity
Colorectal Neoplasms
Neoplasms
Mutation
p53 Genes
66 Citations (Scopus)

Familial amyloidosis: A study of 52 North American-born patients examined during a 30-year period

Gertz, M., Kyle, R. A. & Thibodeau, S. N., 1992, In : Mayo Clinic Proceedings. 67, 5, p. 428-440 13 p.

Research output: Contribution to journalArticle

Familial Amyloidosis
Prealbumin
Cardiomyopathies
Biopsy
Tissue Survival
8 Citations (Scopus)

Linkage of nonspecific X-linked mental retardation to Xq21.31

Jedele, K. B., Michels, V. V., Schaid, D. J., Schowalter, K. V. & Thibodeau, S. N., 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 436-442 7 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
X Chromosome
Intellectual Disability
Genetic Techniques
Fragile X Syndrome
3 Citations (Scopus)

Minimum qualifications for directors: DNA-based genetic-testing laboratories [10]

Murphy, P., Amos, J., Carpenter, N., Fenwick, R., Hodes, M. E., Kelly, T., Matteson, K., Seltzer, W., Spence, J. E., Thibodeau, S. N., Venne, V., Wilson, V. & Zonana, J., 1992, In : American Journal of Human Genetics. 51, 4, p. 910-912 3 p.

Research output: Contribution to journalArticle

35 Citations (Scopus)
Homologous Transplantation
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Bone Marrow Transplantation
Leukocytes
Tissue Donors
117 Citations (Scopus)

Synthesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease

Torres, V., Donovan, K. A., Scicli, G., Holley, K. E., Thibodeau, S. N., Carretero, O. A., Inagami, T., Mcateer, J. A. & Johnson, C. M., Aug 1992, In : Kidney International. 42, 2, p. 364-373 10 p.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Renin
Epithelium
Cysts
Kidney
5 Citations (Scopus)

Will molecular genetic markers help predict the clinical behavior of colorectal neoplasia?

Ahlquist, D. A. & Thibodeau, S. N., 1992, In : Gastroenterology. 102, 4 PART 1, p. 1419-1421 3 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 17
Genetic Markers
Molecular Biology
Colorectal Neoplasms
Mutation
1991
24 Citations (Scopus)

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

Suthers, G. K., Mulley, J. C., Voelckel, M. A., Dahl, N., Väisänen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., Van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Giné, R., Carballo, M., Morris, C. P., Hopwood, J. J. & Sutherland, G. R., Mar 1991, In : American Journal of Human Genetics. 48, 3, p. 460-467 8 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
DNA Probes
DNA
Genetic Recombination
DNA Restriction Enzymes
25 Citations (Scopus)

Genotype prediction in the fragile X syndrome

Hirst, M. C., Nakahori, Y., Knight, S. J. L., Schwartz, C., Thibodeau, S. N., Roche, A., Flint, T. J., Connor, J. M., Fryns, J. P. & Davies, K. E., Dec 1991, In : Journal of Medical Genetics. 28, 12, p. 824-829 6 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Genotype
Mentally Disabled Persons
7 Citations (Scopus)

Linkage homogeneity near the fragile X locus in normal and fragile X families

Suthers, G. K., Mulley, J. C., Voelckel, M. A., Dahl, N., Väisänen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Schinzel, A., Carballo, M., Morris, C. P., Hopwood, J. J. & Sutherland, G. R., 1991, In : Genomics. 10, 3, p. 576-582 7 p.

Research output: Contribution to journalArticle

Genetic Recombination
Fragile X Syndrome
Population Genetics
Population
Mutation
2 Citations (Scopus)

Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus

Carpenter, N. J., Thibodeau, S. N. & Brown, W. T., 1991, In : American Journal of Medical Genetics. 38, 2-3, p. 349-353 5 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Factor IX
Genetic Markers
Lod Score
Centromere
108 Citations (Scopus)

Loss of heterozygosity suggests multiple Genetic alterations in pheochromocytomas and medullary thyroid carcinomas

Khosla, S., Patel, V. M., Hay, I. D., Schaid, D. J., Grant, C. S., Van Heerden, J. A. & Thibodeau, S. N., May 1991, In : Journal of Clinical Investigation. 87, 5, p. 1691-1699 9 p.

Research output: Contribution to journalArticle

Loss of Heterozygosity
Pheochromocytoma
Multiple Endocrine Neoplasia Type 2a
Genetic Loci
Chromosomes
255 Citations (Scopus)

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

Bell, M. V., Hirst, M. C., Nakahori, Y., MacKinnon, R. N., Roche, A., Flint, T. J., Jacobs, P. A., Tommerup, N., Tranebjaerg, L., Froster-Iskenius, U., Kerr, B., Turner, G., Lindenbaum, R. H., Winter, R., Prembrey, M., Thibodeau, S. N. & Davies, K. E., Feb 22 1991, In : Cell. 64, 4, p. 861-866 6 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Methylation
X Chromosome
Chromosomes
Down Syndrome
79 Citations (Scopus)

T-cell receptor gene rearrangement analysis: Cutaneous T cell lymphoma, peripheral T cell lymphoma, and premalignant and benign cutaneous lymphoproliferative disorders

Zelickson, B. D., Peters, M. S., Muller, S. A., Thibodeau, S. N., Lust, J. A., Quam, L. M. & Pittelkow, M. R., 1991, In : Journal of the American Academy of Dermatology. 25, 5 I, p. 787-796 10 p.

Research output: Contribution to journalArticle

T-Lymphocyte Gene Rearrangement
Peripheral T-Cell Lymphoma
T-Cell Receptor Genes
Cutaneous T-Cell Lymphoma
Lymphoproliferative Disorders
1990
3 Citations (Scopus)

A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation

Chong, G. L. & Thibodeau, S. N., 1990, In : Mayo Clinic Proceedings. 65, 8, p. 1072-1076 5 p.

Research output: Contribution to journalArticle

Sequence Deletion
Cystic Fibrosis
Alleles
Mutation
Polymerase Chain Reaction
113 Citations (Scopus)

Clonal studies in the myelodysplastic syndrome using x-linked restriction fragment length polymorphisms

Tefferi, A., Thibodeau, S. N. & Solberg, L. A., May 1 1990, In : Blood. 75, 9, p. 1770-1773 4 p.

Research output: Contribution to journalArticle

Methylation
Myelodysplastic Syndromes
Polymorphism
Restriction Fragment Length Polymorphisms
Bone
19 Citations (Scopus)

Confirmation of lymphomatous pulmonary involvement by immunophenotypic and gene rearrangement analysis of bronchoalveolar lavage fluid

Pisani, R. J., Witzig, T. E., Li, C. Y., Morris, M. A. & Thibodeau, S. N., 1990, In : Mayo Clinic Proceedings. 65, 5, p. 651-656 6 p.

Research output: Contribution to journalArticle

Gene Rearrangement
Bronchoalveolar Lavage Fluid
Lymphoma
Southern Blotting
Lung
8 Citations (Scopus)

Frequency of the ΔPhe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study

Highsmith, W. E. J., Chong, G. L., Orr, H. T., Perry, T. R., Schaid, D. J., Farber, R., Wagner, K., Knowles, M. R., Warwick, W. J., Silverman, L. M. & Thibodeau, S. N., 1990, In : Clinical Chemistry. 36, 10, p. 1741-1746 6 p.

Research output: Contribution to journalArticle

Mutation Rate
Chromosomes
Cystic Fibrosis
Haplotypes
Population
82 Citations (Scopus)

Mycosis fungoides in children and adolescents

Peters, M. S., Thibodeau, S. N., White, J. W. & Winkelmann, R. K., 1990, In : Journal of the American Academy of Dermatology. 22, 6 I, p. 1011-1018 8 p.

Research output: Contribution to journalArticle

Mycosis Fungoides
T-Cell Receptor Genes
Skin
Lymph Nodes
T-Lymphocyte Gene Rearrangement
8 Citations (Scopus)

Primary splenic lymphocyte-depletion Hodgkin's disease

Zellers, R. A., Thibodeau, S. N. & Banks, P. M., 1990, In : American Journal of Clinical Pathology. 94, 4 SUPPL. 1, p. 453-457 5 p.

Research output: Contribution to journalArticle

Lymphocyte Depletion
Hodgkin Disease
Neoplasms
Immunoglobulin Light Chains
Gene Rearrangement
26 Citations (Scopus)

The location of the Philadelphia chromosomal breakpoint site and prognosis in chronic granulocytic leukemia

Tefferi, A., Bren, G. D., Wagner, K. V., Schaid, D. J., Ash, R. C. & Thibodeau, S. N., Dec 1990, In : Leukemia. 4, 12, p. 839-842 4 p.

Research output: Contribution to journalArticle

Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Chromosomes, Human, Pair 22
DNA Restriction Enzymes
DNA Probes
Southern Blotting

The usefulness of cytogenetic and DNA linkage analysis in counseling families with fragile X syndrome

Cronister Silverman, A., Thibodeau, S. N., Jirikowic, J. & Hagerman, R. J., 1990, In : Birth Defects: Original Article Series. 26, 3, p. 238-253 16 p.

Research output: Contribution to journalArticle

Heterozygote Detection
Fragile X Syndrome
Chromosome Mapping
Genetic Counseling
Pedigree
1989
13 Citations (Scopus)

An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767)

Patterson, M., Gitschier, J., Bloomfield, J., Bell, M., Dorkins, H., Froster-Iskenius, U., Sommer, S., Sobell, J., Schaid, D. J., Thibodeau, S. N. & Davies, K. E., 1989, In : American Journal of Human Genetics. 44, 5, p. 679-685 7 p.

Research output: Contribution to journalArticle

Phentolamine
Factor VIII
Meiosis
Restriction Fragment Length Polymorphisms
Introns
1 Citation (Scopus)

Carrier identification of cystic fibrosis by recombinant DNA techniques

Dawson, D. B., Cummins, L. A., Schaid, D. J., Michels, V. V., Gordon, H., O'Connell, E. J. & Thibodeau, S. N., 1989, In : Mayo Clinic Proceedings. 64, 3, p. 325-334 10 p.

Research output: Contribution to journalArticle

Recombinant DNA
Cystic Fibrosis
Mutation
Aptitude
Linkage Disequilibrium
19 Citations (Scopus)

Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome

Patterson, M. N., Bell, M. V., Bloomfield, J., Flint, T., Dorkins, H., Thibodeau, S. N., Schaid, D. J., Bren, G., Schwartz, C. E., Wieringa, B., Ropers, H. H., Callen, D. F., Sutherland, G., Froster-Iskenius, U., Vissing, H. & Davies, K. E., 1989, In : Genomics. 4, 4, p. 570-578 9 p.

Research output: Contribution to journalArticle

Physical Chromosome Mapping
Chromosomes, Human, X
Pulsed Field Gel Electrophoresis
Digestion
Fragile X Syndrome
18 Citations (Scopus)
Bone Marrow Diseases
Pancytopenia
Prednisone
Combination Drug Therapy
Leukocyte Count
37 Citations (Scopus)

The bcr gene in Philadelphia chromosome positive acute lymphoblastic leukemia

Heisterkamp, N., Jenkins, R., Thibodeau, S. N., Testa, J. R., Weinberg, K. & Groffen, J., 1989, In : Blood. 73, 5, p. 1307-1311 5 p.

Research output: Contribution to journalArticle

Philadelphia Chromosome
Chromosomes
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Genes
Chromosomes, Human, Pair 22
63 Citations (Scopus)

Third-party-mediated graft rejection and graft-versus-host disease after T-cell-depleted bone marrow transplantation, as demonstrated by hypervariable DNA probes and HLA-DR polymorphism

Drobyski, W., Thibodeau, S. N., Truitt, R. L., Baxter-Lowe, L. A., Gorski, J., Jenkins, R., Gottschall, J. & Ash, R. C., 1989, In : Blood. 74, 6, p. 2285-2294 10 p.

Research output: Contribution to journalArticle

HLA DNA Probes
T-cells
Graft Rejection
Graft vs Host Disease
Polymorphism
1988
1 Citation (Scopus)

Fragile X syndrome: Linkage analysis in black and white populations

Schwartz, C. E., Phelan, M. C., Brightharp, C., Pancoast, I., Howard-Peebles, P. N., Thibodeau, S. N., Brown, W. T. & Jenkins, E. C., 1988, In : American Journal of Medical Genetics. 30, 1-2, p. 531-542 12 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Genetic Markers
Population
Genetic Counseling
Heterozygote
8 Citations (Scopus)

Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome

Thibodeau, S. N., Dorkins, H. R., Faulk, K. R., Berry, R., Smith, A. C. M., Hagerman, R., King, A. & Davies, K. E., Jul 1988, In : Human Genetics. 79, 3, p. 219-227 9 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Genetic Heterogeneity
Information Storage and Retrieval
Pedigree
Genetic Markers
24 Citations (Scopus)

Multilocus analysis of the fragile X syndrome

Brown, W. T., Gross, A., Chan, C., Jenkins, E. C., Mandel, J. L., Oberlé, I., Arveiler, B., Novelli, G., Thibodeau, S. N., Hagerman, R., Summers, K., Turner, G., White, B. N., Mulligan, L., Forster-Gibson, C., Holden, J. J. A., Zoll, B., Krawczak, M., Goonewardena, P., Gustavson, K. H. & 8 others, Pettersson, U., Holmgren, G., Schwartz, C., Howard-Peebles, P. N., Murphy, P., Breg, W. R., Veenema, H. & Carpenter, N. J., Mar 1988, In : Human Genetics. 78, 3, p. 201-205 5 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Genetic Linkage
Genetic Heterogeneity
Counseling
1987

A modified method for quantifying urinary vanillylmandelic acid.

Parks, P. J. & Thibodeau, S. N., Jul 1987, In : Clinical Chemistry. 33, 7, p. 1258 1 p.

Research output: Contribution to journalArticle

Vanilmandelic Acid
Colorimetry
Quality Control
Quality control
8 Citations (Scopus)

Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism

Smith, K. J., Thompson, A. R., McMullen, B. A., Frazier, D., Lin, S. W., Stafford, D., Kisiel, W., Thibodeau, S. N., Chen, S. H. & Smith, L. F., 1987, In : Blood. 70, 4, p. 1006-1013 8 p.

Research output: Contribution to journalArticle

Hemophilia B
Factor IX
Immunoassay
Alanine
Testing
10 Citations (Scopus)

Fragile X syndrome: skin elastin abnormalities.

Waldstein, G., Mierau, G., Ahmad, R., Thibodeau, S. N., Hagerman, R. J. & Caldwell, S., 1987, In : Birth defects original article series. 23, 1, p. 103-114 12 p.

Research output: Contribution to journalArticle

Sex Chromosome Aberrations
Skin Abnormalities
Fragile X Syndrome
Connective Tissue Diseases
Elastic Tissue
31 Citations (Scopus)

Mapping of DNA markers close to the fraglle site on the human X chromosome at Xq25-3

Patterson, M., Kenwrick, S., Thibodeau, S. N., Faulk, K., Mattei, M. G., Mattei, J. F. & Davies, K. E., Mar 25 1987, In : Nucleic Acids Research. 15, 6, p. 2639-2651 13 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
X Chromosome
Chromosomes
Genetic Markers
Chromosome
2 Citations (Scopus)
Heterozygote Detection
Sex Chromosome Aberrations
Chromosome Banding
Fragile X Syndrome
Recombinant DNA
1983
8 Citations (Scopus)

Analysis of the estrogen receptor from human uterus and breast tumor tissue by isoelectric focusing

Thibodeau, S. N., Sullivan, W. P. & Jiang, N. S., 1983, In : Journal of Clinical Endocrinology and Metabolism. 57, 4, p. 741-748 8 p.

Research output: Contribution to journalArticle

Isoflurophate
Isoelectric Focusing
Estrogen Receptors
Uterus
Tumors
1981
32 Citations (Scopus)

Simultaneous measurement of estrogen and progesterone receptors in tumor cytosols with use of 125 I-labeled estradiol and of 3H-R5020

Thibodeau, S. N., Freeman, L. & Jiang, N. S., 1981, In : Clinical Chemistry. 27, 5, p. 687-691 5 p.

Research output: Contribution to journalArticle

Promegestone
Progesterone Receptors
Isotopes
Estrogen Receptors
Cytosol
1980
10 Citations (Scopus)

Cotranslational sequestration of egg white proteins and placental lactogen inside membrane vesicles.

Palmiter, R. D., Thibodeau, S. N., Rogers, G. & Boime, I., 1980, In : Annals of the New York Academy of Sciences. 343, p. 192-209 18 p.

Research output: Contribution to journalArticle

Ovomucin
Placental Lactogen
Egg Proteins
Ovalbumin
Glycosides
9 Citations (Scopus)

Processing of precursor proteins by preparations of oviduct microsomes.

Thibodeau, S. N. & Walsh, K. A., 1980, In : Annals of the New York Academy of Sciences. 343, p. 180-191 12 p.

Research output: Contribution to journalArticle

Protein Precursors
Oviducts
Microsomes
Assays
Polyribosomes
1978
93 Citations (Scopus)

Identical precursors for serum transferrin and egg white conalbumin.

Thibodeau, S. N., Lee, D. C. & Palmiter, R. D., Jun 10 1978, In : Journal of Biological Chemistry. 253, 11, p. 3771-3774 4 p.

Research output: Contribution to journalArticle

Conalbumin
Egg White
Transferrin
Serum
Amino Acids
29 Citations (Scopus)

Precursor of egg white ovomucoid. Amino acid sequence of an NH2-terminal extension

Thibodeau, S. N., Palmiter, R. D. & Walsh, K. A., 1978, In : Journal of Biological Chemistry. 253, 24, p. 9018-9023 6 p.

Research output: Contribution to journalArticle

Precipitin Tests
Ovomucin
Egg Proteins
Egg White
Oviducts