• 46960 Citations
  • 101 Scopus h-Index
1978 …2021

Research output per year

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Research Output

1993

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Lindor, N. M., Jalal, S. M., Thibodeau, S. N., Bonde, D., Sauser, K. L. & Karnes, P. S., Oct 1993, In : Clinical Genetics. 44, 4, p. 185-189 5 p.

Research output: Contribution to journalArticle

32 Scopus citations

News and comments

Thibodeau, S. N., Jan 1 1993, In : Diseases of the colon and rectum. 36, 8, 1 p.

Research output: Contribution to journalComment/debate

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., Nov 1993, In : Cancer Genetics and Cytogenetics. 71, 1, p. 7-14 8 p.

Research output: Contribution to journalArticle

108 Scopus citations
1992

A Genetic Review of Complete and Partial Hydatidiform Moles and Nonmolar Triploidy

LINDOR, NORALANE. M., NEY, JUDITH. A., GAFFEY, THOMAS. A., JENKINS, ROBERT. B., THIBODEAU, STEPHEN. N. & DEWALD, GORDON. W., Jan 1 1992, In : Mayo Clinic proceedings. 67, 8, p. 791-799 9 p.

Research output: Contribution to journalReview article

Open Access
45 Scopus citations

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. L., Jun 1 1992, In : American journal of medical genetics. 43, 1-2, p. 244-254 11 p.

Research output: Contribution to journalArticle

16 Scopus citations

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., Jan 1 1992, In : Nature. 359, 6392, p. 235-237 3 p.

Research output: Contribution to journalArticle

1527 Scopus citations

A study of aqueous humor formation in patients with cystic fibrosis

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

Research output: Contribution to journalArticle

16 Scopus citations

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., Kovach, J. S. & Thibodeau, S. N., Sep 15 1992, In : Cancer. 70, 4 S, p. 1732-1739 8 p.

Research output: Contribution to journalArticle

85 Scopus citations

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

26 Scopus citations

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 1 1992, In : Journal of medical genetics. 29, 1, p. 56-57 2 p.

Research output: Contribution to journalArticle

1 Scopus citations

Expression of pS3 and 17p Allelic Loss in Colorectal Carcinoma

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

Research output: Contribution to journalArticle

130 Scopus citations

Familial Amyloidosis: A Study of 52 North American-Born Patients Examined During a 30-Year Period

GERTZ, MORIE. A., KYLE, ROBERT. A. & THIBODEAU, STEPHEN. N., Jan 1 1992, In : Mayo Clinic proceedings. 67, 5, p. 428-440 13 p.

Research output: Contribution to journalArticle

68 Scopus citations

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., Jun 1 1992, In : American journal of medical genetics. 43, 1-2, p. 436-442 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

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., Venne, V., Wilson, V. & Zonana, J., Jan 1 1992, In : American journal of human genetics. 51, 4, p. 910-912 3 p.

Research output: Contribution to journalLetter

3 Scopus citations

Molecular remission occurring after donor leukocyte infusions for the treatment of relapsed chronic myelogenous leukemia after allogeneic bone marrow transplantation

Drobyski, W. R., Roth, M. S., Thibodeau, S. N. & Gottschall, J. L., Jan 1 1992, In : Bone Marrow Transplantation. 10, 3, p. 301-304 4 p.

Research output: Contribution to journalArticle

36 Scopus citations

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

Torres, V. E., 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

Open Access
118 Scopus citations

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

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

Research output: Contribution to journalEditorial

5 Scopus citations
1991

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., Vaisanen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., Van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Gine, R., Carballo, M., Morris, C. P., Hopwood, J. J. & Sutherland, G. R., Mar 27 1991, In : American journal of human genetics. 48, 3, p. 460-467 8 p.

Research output: Contribution to journalArticle

24 Scopus citations

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., Jan 1 1991, In : Journal of medical genetics. 28, 12, p. 824-829 6 p.

Research output: Contribution to journalArticle

Open Access
25 Scopus citations

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., Jul 1991, In : Genomics. 10, 3, p. 576-582 7 p.

Research output: Contribution to journalArticle

7 Scopus citations

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

Carpenter, N. J., Thibodeau, S. N. & Brown, W. T., Feb 19 1991, In : American journal of medical genetics. 38, 2-3, p. 349-353 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

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., Jan 1 1991, In : Journal of Clinical Investigation. 87, 5, p. 1691-1699 9 p.

Research output: Contribution to journalArticle

Open Access
108 Scopus citations

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. & Davies, K. E., Feb 22 1991, In : Cell. 64, 4, p. 861-866 6 p.

Research output: Contribution to journalArticle

257 Scopus citations

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., Jan 1 1991, In : Journal of the American Academy of Dermatology. 25, 5, p. 787-796 10 p.

Research output: Contribution to journalArticle

79 Scopus citations
1990

A Simple Assay for the Screening of the Cystic Fibrosis Allele in Carriers of the Phe508 Deletion Mutation

CHONG, GEORGE. L. & THIBODEAU, STEPHEN. N., Jan 1 1990, In : Mayo Clinic proceedings. 65, 8, p. 1072-1076 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

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

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

Research output: Contribution to journalArticle

115 Scopus citations

Confirmation of Lymphomatous Pulmonary Involvement by Immunophenotypic and Gene Rearrangement Analysis of Bronchoalveolar Lavage Fluid

PISANI, RICHARD. J., WITZIG, THOMAS. E., LI, CHIN. YANG., MORRIS, MARY. ANN. & THIBODEAU, STEPHEN. N., Jan 1 1990, In : Mayo Clinic proceedings. 65, 5, p. 651-656 6 p.

Research output: Contribution to journalArticle

19 Scopus citations

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., Chong, G. L., Orr, H. T., Perry, T. R., Schaid, D., Farber, R., Wagner, K., Knowles, M. R., Warwick, W. J., Silverman, L. M. & Thibodeau, S. N., Nov 23 1990, In : Clinical chemistry. 36, 10, p. 1741-1746 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Mycosis fungoides in children and adolescents

Peters, M. S., Thibodeau, S. N., White, J. W. & Winkelmann, R. K., Jan 1 1990, In : Journal of the American Academy of Dermatology. 22, 6, p. 1011-1018 8 p.

Research output: Contribution to journalArticle

82 Scopus citations

Primary splenic lymphocyte-depletion Hodgkin's disease

Zellers, R. A., Thibodeau, S. N. & Banks, P. M., Jan 1 1990, In : American journal of clinical pathology. 94, 4 SUPPL. 1, p. 453-457 5 p.

Research output: Contribution to journalArticle

8 Scopus citations

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

26 Scopus citations

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., Dec 1 1990, In : Birth Defects: Original Article Series. 26, 3, p. 238-253 16 p.

Research output: Contribution to journalArticle

1989

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., Thibodeau, S. & Davies, K. E., Jan 1 1989, In : American journal of human genetics. 44, 5, p. 679-685 7 p.

Research output: Contribution to journalArticle

13 Scopus citations

Carrier Identification of Cystic Fibrosis by Recombinant DNA Techniques

DAWSON, D. BRIAN., CUMMINS, LAURA. A., SCHAID, DANIEL. J., MICHELS, VIRGINIA. V., GORDON, HYMIE., O'CONNELL, EDWARD. J. & THIBODEAU, STEPHEN. N., Jan 1 1989, In : Mayo Clinic proceedings. 64, 3, p. 325-334 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

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., Bren, G., Schwartz, C. E., Wieringa, B., Ropers, H. H., Callen, D. F., Sutherland, G., Froster-Iskenius, U., Vissing, H. & Davies, K. E., May 1989, In : Genomics. 4, 4, p. 570-578 9 p.

Research output: Contribution to journalArticle

19 Scopus citations
18 Scopus citations

The bcr gene in Philadelphia chromosome positive acute lymphoblastic leukemia

Heisterkamp, N., Jenkins, R., Thibodeau, S., Testa, J. R., Weinberg, K. & Groffen, J., Jan 1 1989, In : Blood. 73, 5, p. 1307-1311 5 p.

Research output: Contribution to journalArticle

37 Scopus citations

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., Truitt, R. L., Baxter-Lowe, L. A., Gorski, J., Jenkins, R., Gottschall, J. & Ash, R. C., Jan 1 1989, In : Blood. 74, 6, p. 2285-2294 10 p.

Research output: Contribution to journalArticle

63 Scopus citations
1988

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., Brown, W. T. & Jenkins, E. C., Jan 1 1988, In : American journal of medical genetics. 30, 1-2, p. 531-542 12 p.

Research output: Contribution to journalArticle

1 Scopus citations

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 1 1988, In : Human genetics. 79, 3, p. 219-227 9 p.

Research output: Contribution to journalArticle

8 Scopus citations

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., 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 1 1988, In : Human genetics. 78, 3, p. 201-205 5 p.

Research output: Contribution to journalArticle

24 Scopus citations
1987

A modified method for quantifying urinary vanillylmandelic acid.

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

Research output: Contribution to journalArticle

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., Dec 1 1987, In : Blood. 70, 4, p. 1006-1013 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Fragile X syndrome: skin elastin abnormalities.

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

Research output: Contribution to journalArticle

10 Scopus citations

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

Patterson, M., Kenwrick, S., Thibodeau, S., 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

31 Scopus citations

Use of restriction fragment length polymorphism analysis for detecting carriers of 'Fragile X' syndrome

Thibodeau, S. N., Dec 1 1987, In : Clinical chemistry. 33, 10, p. 1726-1730 5 p.

Research output: Contribution to journalReview article

2 Scopus citations
1983

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

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

Research output: Contribution to journalArticle

8 Scopus citations
1981

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., Jan 1 1981, In : Clinical chemistry. 27, 5, p. 687-691 5 p.

Research output: Contribution to journalArticle

32 Scopus citations
1980

COTRANSLATIONAL SEQUESTRATION OF EGG WHITE PROTEINS AND PLACENTAL LACTOGEN INSIDE MEMBRANE VESICLES

Palmiter, R. D., Thibodeau, S. N., Rogers, G. & Boime, I., May 1980, In : Annals of the New York Academy of Sciences. 343, 1, p. 192-209 18 p.

Research output: Contribution to journalArticle

10 Scopus citations

PROCESSING OF PRECURSOR PROTEINS BY PREPARATIONS OF OVIDUCT MICROSOMES

Thibodeau, S. N. & Walsh, K. A., May 1980, In : Annals of the New York Academy of Sciences. 343, 1, p. 180-191 12 p.

Research output: Contribution to journalArticle

9 Scopus citations