Medical & Molecular Genetics

Publications

2003

Significant linkage of Parkinson disease to chromosome 2q36-37

Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., Golbe, L., Koller, W., Lyons, K., Marder, K., Marshall, F., Oakes, D., Shinaman, A., Siemers, E., Wojcieszek, J., Belden, J., Carter, J., Camicioli, R. & 79 others, Andrews, P., Fernandez, M., Hubble, J., Reider, C., Rajput, A., Rajput, A., Shirley, T., Panisset, M., Hall, J., Mendis, T., Grimes, D. A., Gray, P., Ramos, C. S., Roque, S., Reich, S., Dunlop, B., Hauser, R., Sanchez-Ramos, J., Zesiewicz, T., Delgado, H., Friedman, J., Fernandez, H., Lannon, M., Seeberger, L., O'Brien, C., Judd, D., Elmer, L., Davis, K., Fontaine, D., Pfeiffer, R., Pfeiffer, B., Aminoff, M., DiMinno, M., Truong, D., Pathak, M., Tran, A., Rodnitzky, R., Dobson, J., Pahwa, R., Thomas, S., Jennings, D., Marek, K., Mendick, S., Harris, J., Weiner, W., Kurlan, R., Berry, D., Lewitt, P., DeAngelis, M., Tuite, P., Schacherer, R., Martin, W., Wieler, M., Manyam, B., Simpson, P., Bertoni, J., Peterson, C., Gordon, M. F., Hamann, J., Jankovic, J., Hunter, C., Factor, S., Evans, S., Nieves, A., So, J., Stacy, M., Williamson, K., Walker, F., Hunt, V., Kang, U. J., Uy, S., Blindauer, K., Petit, J., Simon, D., Scollins, L., Pullman, R. S., Boyar, K., Gordon, P. & Werner, J., Apr 1 2003, In : American Journal of Human Genetics. 72, 4, p. 1053-1057 5 p.

Research output: Contribution to journalArticle

124 Scopus citations

The mouse salivary androgen-binding protein (ABP) gene cluster on chromosomes 7: Characterization and evolutionary relationships

Laukaitis, C. M., Dlouhy, S. R. & Karn, R. C., Oct 1 2003, In : Mammalian Genome. 14, 10, p. 679-691 13 p.

Research output: Contribution to journalArticle

15 Scopus citations

Theoretical and experimental evidence for hysteresis in cell proliferation.

Bai, S., Goodrich, D., Thron, C. D., Tecarro, E. & Obeyesekere, M., Jan 1 2003, In : Cell cycle (Georgetown, Tex.). 2, 1, p. 46-51 6 p.

Research output: Contribution to journalArticle

12 Scopus citations

Turner syndrome (45X) with clitoromegaly

Haddad, N. G., Vance, G. H., Eugster, E. A., Davis, M. M. & Kaefer, M., Oct 1 2003, In : Journal of Urology. 170, 4 I, p. 1355-1356 2 p.

Research output: Contribution to journalArticle

7 Scopus citations

Update on late relapse of germ cell tumor: A clinical and molecular analysis

George, D. W., Foster, R. S., Hromas, R. A., Robertson, K. A., Vance, G. H., Ulbright, T. M., Gobbett, T. A., Heiber, D. J., Heerema, N. A., Ramsey, H. C., Thurston, V. C., Jung, S. H., Shen, J., Finch, D. E., Kelley, M. R. & Einhorn, L. H., Jan 1 2003, In : Journal of Clinical Oncology. 21, 1, p. 113-122 10 p.

Research output: Contribution to journalArticle

132 Scopus citations

Variability of heart rate correction methods for the QT interval

Desai, M., Li, L., Desta, Z., Malik, M. & Flockhart, D., Jun 1 2003, In : British Journal of Clinical Pharmacology. 55, 6, p. 511-517 7 p.

Research output: Contribution to journalArticle

75 Scopus citations

Visual function in Hungtington's disease patients and presymptomatic gene carriers

O'Donnell, B. F., Wilt, M. A., Hake, A. M., Stout, J. C., Kirkwood, S. C. & Foroud, T., Sep 1 2003, In : Movement Disorders. 18, 9, p. 1027-1034 8 p.

Research output: Contribution to journalArticle

9 Scopus citations

α-Synuclein maps to a quantitative trait locus for alcohol preference and is differentially expressed in alcohol-preferring and -nonpreferring rats

Liang, T., Spence, J., Liu, L., Strother, W. N., Chang, H. W., Ellison, J. A., Lumeng, L., Li, T. K., Foroud, T. & Carr, L. G., Apr 15 2003, In : Proceedings of the National Academy of Sciences of the United States of America. 100, 8, p. 4690-4695 6 p.

Research output: Contribution to journalArticle

100 Scopus citations
2002

Acute graft-versus-host disease of the lung after liver transplantation

Knox, K. S., Behnia, M., Smith, L. R., Vance, G. H., Busk, M., Cummings, O. W., Kwo, P. Y. & Wilkes, D. S., Oct 1 2002, In : Liver Transplantation. 8, 10, p. 968-971 4 p.

Research output: Contribution to journalArticle

12 Scopus citations

Adenovirus-mediated expression of glucokinase in the liver as an adjuvant treatment for type 1 diabetes

Morral, N., McEvoy, R., Dong, H., Meseck, M., Altomonte, J., Thung, S. & Woo, S. L. C., 2002, In : Human gene therapy. 13, 13, p. 1561-1570 10 p.

Research output: Contribution to journalArticle

23 Scopus citations

Allelic analysis on chromosome 5 in sporadic colorectal cancer patients

Zhang, F., Zhou, C., Ling, Y., Qiu, G., Bai, S., Liu, W., He, L. & Peng, Z., Sep 2002, In : Zhonghua zhong liu za zhi [Chinese journal of oncology]. 24, 5, p. 458-460 3 p.

Research output: Contribution to journalArticle

8 Scopus citations

Apparent replication of suggestive linkage on chromosome 16 in the NIMH genetics initiative bipolar pedigrees

Dick, D. M., Foroud, T., Edenberg, H. J., Miller, M., Bowman, E., Leela Rau, N., Raymond Depaulo, J., McInnis, M., Gershon, E., McMahon, F., Rice, J. P., Bierut, L. J., Reich, T. & Nurnberger, J., May 8 2002, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 114, 4, p. 407-412 6 p.

Research output: Contribution to journalArticle

32 Scopus citations

Atherosclerotic lesions and mitochondria DNA deletions in brain microvessels as a central target for the development of human AD and AD-like pathology in aged transgenic mice

Aliev, G., Seyidova, D., Neal, M. L., Shi, J., Lamb, B. T., Siedlak, S. L., Vinters, H. V., Head, E., Perry, G., Lamanna, J. C., Friedland, R. P. & Cotman, C. W., 2002, In : Annals of the New York Academy of Sciences. 977, p. 45-64 20 p.

Research output: Contribution to journalArticle

85 Scopus citations

Bacterial expression and characterization of mature apolipoprotein A-I

Panagotopulos, S. E., Witting, S. R., Horace, E. M., Nicholas Maiorano, J. & Sean Davidson, W., Nov 23 2002, In : Protein Expression and Purification. 25, 2, p. 353-361 9 p.

Research output: Contribution to journalArticle

20 Scopus citations

Basal insulin gene expression significantly improves conventional insulin therapy in type 1 diabetic rats

Dong, H., Altomonte, J., Morral, N., Meseck, M., Thung, S. N. & Woo, S. L. C., 2002, In : Diabetes. 51, 1, p. 130-138 9 p.

Research output: Contribution to journalArticle

Open Access
35 Scopus citations

Case 29-2001: Oncogenic hypophosphatemic osteomalacia [5] (multiple letters)

White, K. E., Waguespack, S. G., Econs, M. J. & Terek, R. M., Jan 31 2002, In : New England Journal of Medicine. 346, 5, p. 381-382 2 p.

Research output: Contribution to journalLetter

5 Scopus citations

Combined shock-wave and immunogene therapy of mouse melanoma and renal carcinoma tumors

Song, J., Tata, D., Li, L., Taylor, J., Bao, S. & Miller, D. L., Jul 1 2002, In : Ultrasound in Medicine and Biology. 28, 7, p. 957-964 8 p.

Research output: Contribution to journalArticle

27 Scopus citations

Defining alcohol-related phenotypes in humans: The collaborative study on the genetics of alcoholism

Bierut, L. J., Saccone, N. L., Rice, J. P., Goate, A., Foroud, T., Edenberg, H., Almasy, L., Conneally, P. M., Crowe, R., Hesselbrock, V., Li, T. K., Nurnberger, J., Porjesz, B., Schuckit, M. A., Tischfield, J., Begleiter, H. & Reich, T., 2002, In : Alcohol Research and Health. 26, 3, p. 208-213 6 p.

Research output: Contribution to journalArticle

68 Scopus citations

Detection of ecotropic replication-competent retroviruses: Comparison of S+/L and marker rescue assays

Reeves, L., Duffy, L., Koop, S., Fyffe, J. & Cornetta, K., Sep 20 2002, In : Human gene therapy. 13, 14, p. 1783-1790 8 p.

Research output: Contribution to journalArticle

11 Scopus citations
6 Scopus citations

Erratum: Perceived genetic risks for bipolar disorder in a patient population: An exploratory study (Journal of Genetic Counseling (2001) 10 (41-52))

Quaid, K. A., Aschen, S. R., Smiley, C. L. & Nurnberger, J. I., 2002, In : Journal of Genetic Counseling. 11, 1, p. 79 1 p.

Research output: Contribution to journalComment/debate

Estimation and inference for a spline-enhanced population pharmacokinetic model

Li, L., Brown, M. B., Lee, K. H. & Gupta, S., Sep 2002, In : Biometrics. 58, 3, p. 601-611 11 p.

Research output: Contribution to journalArticle

29 Scopus citations

Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales

Close Kirkwood, S., Siemers, E., Viken, R. J., Hodes, M. E., Conneally, P. M., Christian, J. C. & Foroud, T., Nov 1 2002, In : Journal of Psychiatric Research. 36, 6, p. 377-382 6 p.

Research output: Contribution to journalArticle

13 Scopus citations

FTIR spectroscopic evidence for the involvement of an acidic residue in quinone binding in cytochrome bd from Escherichia coli

Zhang, J., Oettmeier, W., Gennis, R. B. & Hellwig, P., Apr 9 2002, In : Biochemistry. 41, 14, p. 4612-4617 6 p.

Research output: Contribution to journalArticle

27 Scopus citations

FXI is essential for thrombus formation following FeCl3-induced injury of the carotid artery in the mouse

Rosen, E. D., Gailani, D. & Castellino, F. J., 2002, In : Thrombosis and Haemostasis. 87, 4, p. 774-776 3 p.

Research output: Contribution to journalLetter

108 Scopus citations

Gene targeting in hemostasis. Factor X.

Rosen, E. D., Sep 1 2002, In : Frontiers in bioscience : a journal and virtual library. 7, p. d1915-1925

Research output: Contribution to journalReview article

12 Scopus citations

Genetics of osteoporosis

Peacock, M., Turner, C. H., Econs, M. J. & Foroud, T., Jan 1 2002, In : Endocrine Reviews. 23, 3, p. 303-326 24 p.

Research output: Contribution to journalReview article

316 Scopus citations

Genetic strategies to detect genes involved in alcoholism and alcohol-related traits

Dick, D. M. & Foroud, T., Dec 1 2002, In : Alcohol Research and Health. 26, 3, p. 172-180 9 p.

Research output: Contribution to journalArticle

18 Scopus citations

Gene transfer: The ins, the outs... and the next generation

Mermod, N. & Cornetta, K., Oct 1 2002, In : Current Opinion in Biotechnology. 13, 5, p. 415-417 3 p.

Research output: Contribution to journalEditorial

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations

Parkinson Study Group, 2002, In : American Journal of Human Genetics. 71, 1, p. 124-135 12 p.

Research output: Contribution to journalArticle

147 Scopus citations

HER-2/neu expression in germ cell tumours

Soule, S., Miller, K., Baldridge, L., Kirkpatrick, K., Cheng, L., Gilbert, J. L., Smith, L. R., Thurston, V. C., Vance, G. H. & Einhorn, L., Sep 2002, In : Journal of clinical pathology. 55, 9, p. 656-658 3 p.

Research output: Contribution to journalArticle

26 Scopus citations

Incidence of histoplasmosis following allogeneic bone marrow transplant or solid organ transplant in a hyperendemic area

Vail, G. M., Young, R. S., Wheat, L. J., Filo, R. S., Cornetta, K. & Goldman, M., Sep 2002, In : Transplant Infectious Disease. 4, 3, p. 148-151 4 p.

Research output: Contribution to journalArticle

84 Scopus citations

Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population

Carr, L. G., Foroud, T., Stewart, T., Castelluccio, P., Edenberg, H. J. & Li, T. K., Oct 1 2002, In : American journal of medical genetics. 112, 2, p. 138-143 6 p.

Research output: Contribution to journalArticle

48 Scopus citations

Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease

Taratuto, A. L., Piccardo, P., Reich, E. G., Chen, S. G., Sevlever, G., Schultz, M., Luzzi, A. A., Rugiero, M., Abecasis, G., Endelman, M., Garcia, A. M., Capellari, S., Xie, Z., Lugaresi, E., Gambetti, P., Dlouhy, S. R. & Ghetti, B., Feb 12 2002, In : Neurology. 58, 3, p. 362-367 6 p.

Research output: Contribution to journalArticle

47 Scopus citations

Interactions between heme d and heme b595 in quinol oxidase bd from Escherichia coli: A photoselection study using femtosecond spectroscopy

Borisov, V. B., Liebl, U., Rappaport, F., Martin, J. L., Zhang, J., Gennis, R. B., Konstantinov, A. A. & Vos, M. H., Feb 5 2002, In : Biochemistry. 41, 5, p. 1654-1662 9 p.

Research output: Contribution to journalArticle

54 Scopus citations

Interleukin 12 immunotherapy after autologous stem cell transplantation for hematological malignancies

Robertson, M. J., Pelloso, D., Abonour, R., Hromas, R. A., Nelson, R. P., Wood, L. & Cornetta, K., Nov 1 2002, In : Clinical Cancer Research. 8, 11, p. 3383-3393 11 p.

Research output: Contribution to journalArticle

30 Scopus citations

Is there a genetic relationship between alcoholism and depression?

Nurnberger, J. I., Foroud, T., Flury, L., Meyer, E. T. & Wiegand, R., Dec 1 2002, In : Alcohol Research and Health. 26, 3, p. 233-240 8 p.

Research output: Contribution to journalArticle

31 Scopus citations

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S. & Bennett, M. J., Nov 1 2002, In : Journal of Pediatrics. 141, 5, p. 734-736 3 p.

Research output: Contribution to journalArticle

18 Scopus citations

Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons

Morral, N., O’Neal, W. K., Rice, K., Leland, M. M., Piedra, P. A., Aguilar-CɃrdova, E., Carey, K. D., Beaudet, A. L. & Langston, C., Jan 1 2002, In : Human gene therapy. 13, 1, p. 143-154 12 p.

Research output: Contribution to journalArticle

151 Scopus citations

Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus

Porjesz, B., Almasy, L., Edenberg, H. J., Wang, K., Chorlian, D. B., Foroud, T., Goate, A., Rice, J. P., O'Connor, S. J., Rohrbaugh, J., Kuperman, S., Bauer, L. O., Crowe, R. R., Schuckit, M. A., Hesselbrock, V., Conneally, P. M., Tischfield, J. A., Li, T. K., Reich, T. & Begleiter, H., Mar 19 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 6, p. 3729-3733 5 p.

Research output: Contribution to journalArticle

234 Scopus citations

Linkage for platelet monoamine oxidase (MAO) activity: Results from a replication sample

Saccone, N. L., Rice, J. P., Rochberg, N., Williams, J. T., Goate, A., Reich, T., Edenberg, H. J., Foroud, T., Nurnberger, J. I., Bierut, L. J., Crowe, R. & Li, T. K., 2002, In : Alcoholism: Clinical and Experimental Research. 26, 5, p. 603-609 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families [1]

Nichols, W. C., Pankratz, N., Uniacke, S. K., Pauciulo, M. W., Halter, C., Rudolph, A., Conneally, P. M., Foroud, T., Carter, J., Camicioli, R., Wojcieszek, J., Fernandez, M., Hubble, J., Rajput, A., Panisset, M., Mendis, T., Grimes, D. A., Serrano Ramos, C., Reich, S., Hauser, R. & 53 others, Sanchez-Ramos, J., Zesiewicz, T., Pfeiffer, R., Friedman, J., Fernandez, H., Shults, C., Seeberger, L., O'Brien, C., Pahwa, R., Elmer, L., Jennings, D., Marek, K., Truong, D., Pathak, M., Rodnitzyk, R., Kurlan, R., Tuite, P., Aminoff, M., Marder, K., Lewitt, P., Koller, W., Martin, W., Jankovic, J., Bertoni, J., Factor, S., Walker, F., Jung Kang, U., Stacy, M., Simon, D., Blindauer, K., Manyam, B., Nieves, A., Velickovic, M., Gordon, M. F., Leehey, M., Gordon, P., Rao, J., Dalvi, A., Racette, B., Sethi, K., Sudarsky, L., Saunders Pullman, R., Simuni, T., Dewey, R., Hermanowicz, N., Feigin, A., Calabresse, V., Sutton, J., Ajax, T., Podakalny, G. D., Suchowersky, O., Uitti, R. & Shulman, L., 2002, In : Journal of Medical Genetics. 39, 7, p. 489-492 4 p.

Research output: Contribution to journalLetter

48 Scopus citations

Longitudinal personality changes among presymptomatic Huntington disease gene carriers

Kirkwood, S. C., Siemers, E., Viken, R., Hodes, M. E., Conneally, P. M., Christian, J. C. & Foroud, T., Sep 2002, In : Neuropsychiatry, Neuropsychology and Behavioral Neurology. 15, 3, p. 192-197 6 p.

Research output: Contribution to journalArticle

56 Scopus citations

Loss of heterozygosity analysis to define putative region involved in tumor differentiation and metastases in sporadic colorectal cancer patients

Peng, Z., Zhang, F., Zhou, C., Qiu, G., Bai, S., Liu, W. & He, L., Oct 2002, In : Zhonghua wai ke za zhi [Chinese journal of surgery]. 40, 10, p. 776-779 4 p.

Research output: Contribution to journalArticle

5 Scopus citations

Loss of heterozygosity of chromosome 20 in sporadic colorectal cancer

Peng, Z., Zhou, C., Zhang, F., Ling, Y., Tang, H., Bai, S., Liu, W., Qiu, G. & He, L., Oct 1 2002, In : Chinese Medical Journal. 115, 10, p. 1529-1532 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Mapping of QTL influencing saccharin consumption in the selectively bred alcohol-preferring and -nonpreferring rat lines

Foroud, T., Bice, P., Castelluccio, P., Bo, R., Ritchotte, A., Stewart, R., Lumeng, L., Li, T. K. & Carr, L., Apr 15 2002, In : Behavior Genetics. 32, 1, p. 57-67 11 p.

Research output: Contribution to journalArticle

20 Scopus citations
Open Access
31 Scopus citations

Mice with a severe deficiency of the endothelial Protein C receptor gene develop, survive, and reproduce normally, and do not present with enhanced arterial thrombosis after challenge

Castellino, F. J., Liang, Z., Volkir, S. P., Haalboom, E., Martin, J. A., Sandoval-Cooper, M. J. & Rosen, E. D., Sep 2002, In : Thrombosis and Haemostasis. 88, 3, p. 462-472 11 p.

Research output: Contribution to journalArticle

45 Scopus citations

Mutational analysis of the maize gamma zein C-terminal cysteine residues

Ems-McClung, S. C., Benmoussa, M. & Hainline, B. E., Jan 8 2002, In : Plant Science. 162, 1, p. 131-141 11 p.

Research output: Contribution to journalArticle

6 Scopus citations

Oligonucleotide N3′→P5′ phosphoramidates as efficient telomerase inhibitors

Shea-Herbert, B., Pongracz, K., Shay, J. W. & Gryaznov, S. M., Jan 21 2002, In : Oncogene. 21, 1, p. 638-642 5 p.

Research output: Contribution to journalReview article

108 Scopus citations