Health Sciences Research

Research Output

2001

Germline E-cadherin gene mutations: Is prophylactic total gastrectomy indicated?

Chun, Y. S., Lindor, N. M., Smyrk, T. C., Petersen, B. T., Burgart, L. J., Guilford, P. J. & Donohue, J. H., Jul 1 2001, In : Cancer. 92, 1, p. 181-187 7 p.

Research output: Contribution to journalArticle

124 Scopus citations

Papillary renal cell carcinoma: Analysis of germline mutations in the MET proto-oncogene in a clinic-based population

Lindor, N. M., Dechet, C. B., Greene, M. H., Jenkins, R. B., Zincke, M. T., Weaver, A. L., Wilson, M., Zincke, H. & Liu, W., 2001, In : Genetic Testing. 5, 2, p. 101-106 6 p.

Research output: Contribution to journalArticle

35 Scopus citations
2002

Confirmation of existence of a new syndrome: LAPS syndrome

Lindor, N. M., Kasperbauer, J., Hoffman, A. D., Parisi, J. E., Wang, H. & Warman, M., Apr 22 2002, In : American Journal of Medical Genetics. 109, 2, p. 93-99 7 p.

Research output: Contribution to journalArticle

14 Scopus citations

Delirium resulting from paraneoplastic limbic encephalitis caused by Hodgkin's disease

Kung, S., Mueller, P., Geda, Y. E. & Krahn, L. E., Nov 2002, In : Psychosomatics. 43, 6, p. 498-501 4 p.

Research output: Contribution to journalArticle

10 Scopus citations

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

Wise, C. A., Gillum, J. D., Seidman, C. E., Lindor, N. M., Veile, R., Bashiardes, S. & Lovett, M., Apr 15 2002, In : Human Molecular Genetics. 11, 8, p. 961-969 9 p.

Research output: Contribution to journalArticle

322 Scopus citations

Progressive extensive osteoma cutis associated with dysmorphic features: A new syndrome? Case report and review of the literature

Davis, M. D. P., Pittelkow, M. R., Lindor, N. M., Lundstrom, C. E. & Fitzpatrick, L. A., 2002, In : British Journal of Dermatology. 146, 6, p. 1075-1080 6 p.

Research output: Contribution to journalArticle

9 Scopus citations
2003

Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome

Jacofsky, D. J., Stans, A. A. & Lindor, N. M., Mar 1 2003, In : Orthopedics. 26, 3, p. 329-330 2 p.

Research output: Contribution to journalArticle

2 Scopus citations

Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks

Feldstein, A. E., Miller, S. M., El-Youssef, M., Rodeberg, D., Lindor, N. M., Burgart, L. J., Szurszewski, J. H. & Farrugia, G., Apr 2003, In : Journal of Pediatric Gastroenterology and Nutrition. 36, 4, p. 492-497 6 p.

Research output: Contribution to journalArticle

83 Scopus citations

Comparison of the Short Test of Mental Status and the Mini-Mental State Examination in Mild Cognitive Impairment

Tang-Wai, D. F., Knopman, D. S., Geda, Y. E., Edland, S. D., Smith, G. E., Ivnik, R. J., Tangalos, E. G., Boeve, B. F. & Petersen, R. C., Dec 2003, In : Archives of Neurology. 60, 12, p. 1777-1781 5 p.

Research output: Contribution to journalArticle

127 Scopus citations

Desmoid tumors in familial adenomatous polyposis: A pilot project evaluating efficacy of treatment with pirfenidone

Lindor, N. M., Dozois, R., Nelson, H., Wolff, B., King, J., Boardman, L. A., Wilson, M., Greene, M. H., Karnes, W., Mesa, R., Welch, T., Edmonson, J. & Limburg, P. J., Aug 1 2003, In : American Journal of Gastroenterology. 98, 8, p. 1868-1874 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age

Kakar, S., Burgart, L. J., Thibodeau, S. N., Rabe, K. G., Petersen, G. M., Goldberg, R. M. & Lindor, N. M., Mar 15 2003, In : Cancer. 97, 6, p. 1421-1427 7 p.

Research output: Contribution to journalArticle

74 Scopus citations

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Ensenauer, R. E., Adeyinka, A., Flynn, H. C., Michels, V. V., Lindor, N. M., Dawson, D. B., Thorland, E. C., Lorentz, C. P., Goldstein, J. L., McDonald, M. T., Smith, W. E., Simon-Fayard, E., Alexander, A. A., Kulharya, A. S., Ketterling, R. P., Clark, R. D. & Jalal, S. M., Nov 2003, In : American Journal of Human Genetics. 73, 5, p. 1027-1040 14 p.

Research output: Contribution to journalArticle

253 Scopus citations

Pelvic primitive neuroectodermal tumor associated with a cluster of small round cell tumors: Case report and review of current literature

Gostout, B. S., Lindor, N. M., DiMarco, C. S., Peethambaram, P. P. & Clayton, A. C., Oct 1 2003, In : Gynecologic Oncology. 91, 1, p. 247-253 7 p.

Research output: Contribution to journalArticle

8 Scopus citations

The Aging Population and Its Impact on the Surgery Workforce

Etzioni, D. A., Liu, J. H., Maggard, M. A. & Ko, C. Y., Jan 1 2003, In : Annals of Surgery. 238, 2, p. 170-177 8 p.

Research output: Contribution to journalReview article

474 Scopus citations

The APC E1317Q Variant in Adenomatous Polyps and Colorectal Cancers

Hahnloser, D., Petersen, G. M., Rabe, K., Snow, K., Lindor, N. M., Boardman, L. A., Koch, B., Doescher, D., Wang, L., Steenblock, K. & Thibodeau, S. N., Oct 2003, In : Cancer Epidemiology Biomarkers and Prevention. 12, 10, p. 1023-1028 6 p.

Research output: Contribution to journalArticle

27 Scopus citations

Unilateral Lisch nodules in the absence of other features of neurofibromatosis 1

Lal, G., Leavitt, J. A., Lindor, N. M. & Mahr, M. A., Apr 1 2003, In : American Journal of Ophthalmology. 135, 4, p. 567-568 2 p.

Research output: Contribution to journalArticle

6 Scopus citations
2004

De novo genesis of neuropsychiatric symptoms in Mild Cognitive Impairment (MCI)

Geda, Y. E., Smith, G. E., Knopman, D. S., Boeve, B. F., Tongalos, E. G., Ivnik, R. J., Mrazek, D. A., Edland, S. D. & Petersen, R. C., Mar 2004, In : International Psychogeriatrics. 16, 1, p. 51-60 10 p.

Research output: Contribution to journalArticle

79 Scopus citations

Heterozygous Niemann-Pick disease type C presenting with tremor

Josephs, K. A., Matsumoto, J. Y. & Lindor, N. M., Dec 14 2004, In : Neurology. 63, 11, p. 2189-2190 2 p.

Research output: Contribution to journalArticle

27 Scopus citations
102 Scopus citations

LEOPARD syndrome: A new polyaneurysm association and an update on the molecular genetics of the disease

Yagubyan, M., Panneton, J. M., Lindor, N. M., Conti, E., Sarkozy, A. & Pizzuti, A., Apr 2004, In : Journal of Vascular Surgery. 39, 4, p. 897-900 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

Wang, L., Baudhuin, L. M., Boardman, L. A., Steenblock, K. J., Petersen, G. M., Halling, K. C., French, A. J., Johnson, R. A., Burgart, L. J., Rabe, K., Lindor, N. M. & Thibodeau, S. N., Jul 2004, In : Gastroenterology. 127, 1, p. 9-16 8 p.

Research output: Contribution to journalArticle

168 Scopus citations

Nonmosaic smallest duplication of 12q24.31-qter: The first reported case

Ireland, J. W., Jalal, S. M., McGrann, P. S. & Lindor, N. M., Jul 30 2004, In : American Journal of Medical Genetics. 128 A, 3, p. 305-310 6 p.

Research output: Contribution to journalArticle

11 Scopus citations
16 Scopus citations

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., de la Chapelle, A., Rüschoff, J., Fishel, R., Lindor, N. M., Burgart, L. J., Hamelin, R., Hamilton, S. R., Hiatt, R. A., Jass, J., Lindblom, A., Lynch, H. T., Peltomaki, P., Ramsey, S. D., Rodriguez-Bigas, M. A., Vasen, H. F. A., Hawk, E. T. & 3 others, Barrett, J. C., Freedman, A. N. & Srivastava, S., Feb 18 2004, In : Journal of the National Cancer Institute. 96, 4, p. 261-268 8 p.

Research output: Contribution to journalArticle

2046 Scopus citations
71 Scopus citations
2005

A downer Nubian goat with coughing

Gades, N. M., Okerman, R., Twernbold, D., Thompson, K., Bjertness, L. & Marler, R. J., Sep 2005, In : Lab Animal. 34, 8, p. 24-25 2 p.

Research output: Contribution to journalArticle

Association between smoking and erectile dysfunction: A population-based study

Gades, N. M., Nehra, A., Jacobson, D. J., McGree, M. E., Girman, C. J., Rhodes, T., Roberts, R. O., Lieber, M. M. & Jacobsen, S. J., Feb 15 2005, In : American Journal of Epidemiology. 161, 4, p. 346-351 6 p.

Research output: Contribution to journalArticle

96 Scopus citations
1 Scopus citations

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

Casey, G., Lindor, N. M., Papadopoulos, N., Thibodeau, S. N., Moskow, J., Steelman, S., Buzin, C. H., Sommer, S. S., Collins, C. E., Butz, M., Aronson, M., Gallinger, S., Barker, M. A., Young, J. P., Jass, J. R., Hopper, J. L., Diep, A., Bapat, B., Salem, M., Seminara, D. & 1 others, Haile, R., Feb 16 2005, In : Journal of the American Medical Association. 293, 7, p. 799-809 11 p.

Research output: Contribution to journalArticle

77 Scopus citations

Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: Report of a case

Finch, R., Moore, H. G., Lindor, N. M., Jalal, S. M., Markowitz, A., Jhanwar, S., Offit, K. & Guillem, J. G., Nov 2005, In : Diseases of the Colon and Rectum. 48, 11, p. 2148-2152 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Genetic testing in an ethnically diverse cohort of high-risk women: A comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry

Nanda, R., Schumm, L. P., Cummings, S., Fackenthal, J. D., Sveen, L., Ademuyiwa, F., Cobleigh, M., Esserman, L., Lindor, N. M., Neuhausen, S. L. & Olopade, O. I., Oct 19 2005, In : Journal of the American Medical Association. 294, 15, p. 1925-1933 9 p.

Research output: Contribution to journalArticle

177 Scopus citations

Isolated loss of PMS2 expression in colorectal cancers: Frequency, patient age, and familial aggregation

Gill, S., Lindor, N. M., Burgart, L. J., Smalley, R., Leontovich, O., French, A., Goldberg, R. M., Sargent, D. J., Jass, J. R., Hopper, J. L., Jenkins, M. A., Young, J., Barker, M. A., Walsh, M. D., Ruszkiewicz, A. R. & Thibodeau, S. N., Sep 15 2005, In : Clinical Cancer Research. 11, 18, p. 6466-6471 6 p.

Research output: Contribution to journalArticle

45 Scopus citations

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation

Boeve, B. F., Tremont-Lukats, I. W., Waclawik, A. J., Murrell, J. R., Hermann, B., Jack, C. R. J., Shiung, M. M., Smith, G. E., Nair, A. R., Lindor, N. M., Koppikar, V. & Ghetti, B., Apr 2005, In : Brain. 128, 4, p. 752-772 21 p.

Research output: Contribution to journalArticle

48 Scopus citations

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X

Lindor, N. M., Rabe, K., Petersen, G. M., Haile, R., Casey, G., Baron, J., Gallinger, S., Bapat, B., Aronson, M., Hopper, J., Jass, J., LeMarchand, L., Grove, J., Potter, J., Newcomb, P., Terdiman, J. P., Conrad, P., Moslein, G., Goldberg, R., Ziogas, A. & 6 others, Anton-Culver, H., De Andrade, M., Siegmund, K., Thibodeau, S. N., Boardman, L. A. & Seminara, D., Apr 27 2005, In : Journal of the American Medical Association. 293, 16, p. 1979-1985 7 p.

Research output: Contribution to journalArticle

444 Scopus citations

National Institutes of Health Consensus Development Conference statement on Celiac Disease, June 28-30, 2004

Elson, C. O., Ballew, M., Barnard, J. A., Bernstein, S. J., Check, I. J., Cohen, M. B., Fazio, S., Johanson, J. F., Lindor, N. M., Montgomery, E., Richardson, L. H., Rogers, D., Vijan, S., Bushara, K. O., Case, S., Catassi, C., Ciclitira, P. J., Collin, P., Cranney, A., Eisenbarth, G. S. & 45 others, Fasano, A., Green, P. H. R., Hill, I. D., Hoffenberg, E. J., Kagnoff, M. F., Kelly, C. P., Kupper, C., Murray, J. A., Pietzak, M. M., Rewers, M. J., Rostom, A., Zone, J. J., James, S. P., Atkins, D., Bray, E. A., Elson, C. O., Everhart, J., Fasano, A., Gallo-Torres, H., Grave, G. D., Hamilton, F. A., Hubbard, V. S., Kagnoff, M. F., Kelly, C. P., Kramer, B. S., Marciel, K. K., Monarch, E., Murray, J. A., Nerurkar, L. S., Patrias, K., Pennington, J., Rewers, M. J., Rossi, S., Rothermel, A., Siegel, J. N., Spence, J. T., Willard, C., Wilson, W., Spiegel, A. M., Kramer, B. S., Crawford, L. M., Veneman, A. M., Alexander, D., Von Eschenbach, A. C. & Fauci, A. S., Apr 2005, In : Gastroenterology. 128, 4 SUPPL. 1

Research output: Contribution to journalArticle

123 Scopus citations

Pathological gambling caused by drugs used to treat Parkinson disease

Dodd, M. L., Klos, K. J., Bower, J. H., Geda, Y. E., Josephs, K. A. & Ahlskog, J. E., Sep 2005, In : Archives of Neurology. 62, 9, p. 1377-1381 5 p.

Research output: Contribution to journalArticle

427 Scopus citations

Prevalence of conditions potentially associated with lower urinary tract symptoms in men

Gades, N. M., Jacobson, D. J., Girman, C. J., Roberts, R. O., Lieber, M. M. & Jacobsen, S. J., Mar 2005, In : BJU International. 95, 4, p. 549-553 5 p.

Research output: Contribution to journalArticle

42 Scopus citations

Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome

Babovic-Vuksanovic, D., Jacobson, R. M., Lindor, N. M. & Weiler, C. R., Jan 2005, In : Journal of Inherited Metabolic Disease. 28, 2, p. 181-186 6 p.

Research output: Contribution to journalArticle

7 Scopus citations

Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome

Lindor, N. M. & Bristow, J., May 15 2005, In : American Journal of Medical Genetics. 135 A, 1, p. 75-80 6 p.

Research output: Contribution to journalArticle

45 Scopus citations

The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experience

Oderich, G., Panneton, J. M., Bower, T. C., Lindor, N. M., Cherry, K. J., Noel, A. A., Kalra, M., Sullivan, T. & Gloviczki, P., Jul 2005, In : Journal of Vascular Surgery. 42, 1, p. 98-106 9 p.

Research output: Contribution to journalArticle

264 Scopus citations

Tumor suppressor p53 represses transcription of RECQ4 helicase

Sengupta, S., Shimamoto, A., Koshiji, M., Pedeux, R., Rusin, M., Spillare, E. A., Shen, J. C., Huang, L. E., Lindor, N. M., Furuichi, Y. & Harris, C. C., Mar 3 2005, In : Oncogene. 24, 10, p. 1738-1748 11 p.

Research output: Contribution to journalArticle

59 Scopus citations
2006

Argyrophilic grain disease in demented subjects presenting initially with amnestic mild cognitive impairment

Jicha, G. A., Petersen, R. C., Knopman, D. S., Boeve, B. F., Smith, G. E., Geda, Y. E., Johnson, K. A., Cha, R., DeLucia, M. W., Braak, H., Dickson, D. W. & Parisi, J. E., Jun 2006, In : Journal of Neuropathology and Experimental Neurology. 65, 6, p. 602-609 8 p.

Research output: Contribution to journalArticle

30 Scopus citations

Ascending the learning curve-MSI testing experience of a six-laboratory consortium

Lindor, N. M., Smalley, R., Barker, M., Bigler, J., Krumroy, L. M., Lum-Jones, A., Plummer, S. J., Selander, T., Thomas, S., Youash, M., Seminara, D., Casey, G., Bapat, B. & Thibodeau, S. N., 2006, In : Cancer Biomarkers. 2, 1-2, p. 5-9 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

Dealing with Multiple Endpoints

Dueck, A., Novotny, P. J. & Sloan, J. A., Nov 2006, In : Current Problems in Cancer. 30, 6, p. 298-306 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Depression, apolipoprotein E genotype, and the incidence of mild cognitive impairment: A prospective cohort study

Geda, Y. E., Knopman, D. S., Mrazek, D. A., Jicha, G. A., Smith, G. E., Negash, S., Boeve, B. F., Ivnik, R. J., Petersen, R. C., Pankratz, V. S. & Rocca, W. A., Mar 2006, In : Archives of Neurology. 63, 3, p. 435-440 6 p.

Research output: Contribution to journalArticle

174 Scopus citations

Desmoid tumors - A characterization of patients seen at Mayo Clinic 1976-1999

Fallen, T., Wilson, M., Morlan, B. & Lindor, N. M., Jun 2006, In : Familial Cancer. 5, 2, p. 191-194 4 p.

Research output: Contribution to journalArticle

64 Scopus citations

Dropout in a longitudinal, cohort study of urologic disease in community men

Gades, N. M., Jacobson, D. J., McGree, M. E., Lieber, M. M., Roberts, R. O., Girman, C. J. & Jacobsen, S. J., Dec 14 2006, In : BMC Medical Research Methodology. 6, 58.

Research output: Contribution to journalArticle

22 Scopus citations

Frontotemporal dementia and parkinsonism associated with the IVS1+1G→A mutation in progranulin: A clinicopathologic study

Boeve, B. F., Baker, M., Dickson, D. W., Parisi, J. E., Giannini, C., Josephs, K. A., Hutton, M., Pickering-Brown, S. M., Rademakers, R. V., Tang-Wai, D., Jack, C. R. J., Kantarci, K. M., Shiung, M. M., Golde, T., Smith, G. E., Geda, Y. E., Knopman, D. S. & Petersen, R. C., Nov 2006, In : Brain. 129, 11, p. 3103-3114 12 p.

Research output: Contribution to journalArticle

85 Scopus citations

Human genetic disorders

Kruisselbrink, T. M., Lindor, N. M. & O'Brien, J. F., 2006, Essentials of Anatomic Pathology. Humana Press, p. 37-85 49 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Integrating QOL Assessments for Clinical and Research Purposes

Halyard, M. Y., Frost, M. H., Dueck, A. & Sloan, J. A., Nov 2006, In : Current Problems in Cancer. 30, 6, p. 319-330 12 p.

Research output: Contribution to journalArticle

19 Scopus citations