Medical & Molecular Genetics

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2001

Small marker chromosome identification in metaphase and interphase using centromeric multiplex FISH (CM-FISH)

Henegariu, O., Bray-Ward, P., Artan, S., Vance, G. H., Qumsyieh, M. & Ward, D. C., Jan 1 2001, In : Laboratory Investigation. 81, 4, p. 475-481 7 p.

Research output: Contribution to journalArticle

Open Access
32 Scopus citations

Stable gene expression from a mammalian artificial chromosome

Grimes, B. R., Schindelhauer, D., McGill, N. I., Ross, A., Ebersole, T. A. & Cooke, H. J., 2001, In : EMBO Reports. 2, 10, p. 910-914 5 p.

Research output: Contribution to journalArticle

73 Scopus citations

Stoppage: An issue for segregation analysis

Slager, S. L., Foroud, T., Haghighi, F., Spence, M. A. & Hodge, S. E., Apr 10 2001, In : Genetic epidemiology. 20, 3, p. 328-339 12 p.

Research output: Contribution to journalArticle

11 Scopus citations

Telomerase inhibitors - Oligonucleotide phosphoramidates as potential therapeutic agents

Gryaznov, S., Pongracz, K., Matray, T., Schultz, R., Pruzan, R., Aimi, J., Chin, A., Harley, C., Shea-Herbert, B., Shay, J., Oshima, Y., Asai, A. & Yamashita, Y., 2001, In : Nucleosides, Nucleotides and Nucleic Acids. 20, 4-7, p. 401-410 10 p.

Research output: Contribution to journalArticle

59 Scopus citations

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

White, K. E., Jonsson, K. B., Carn, G., Hampson, G., Spector, T. D., Mannstadt, M., Lorenz-Depiereux, B., Miyauchi, A., In Myung Yang, M. Y., Ljunggren, O., Meitinger, T., Strom, T. M., Jüppner, H. & Econs, M. J., 2001, In : Journal of Clinical Endocrinology and Metabolism. 86, 2, p. 497-500 4 p.

Research output: Contribution to journalArticle

Open Access
277 Scopus citations

The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2

Liu, W., Wang, H., Zhao, S., Zhao, W., Bai, S., Zhao, Y., Xu, S., Wu, C., Huang, W., Chen, Z., Feng, G. & He, L., Jan 1 2001, In : Journal of dental research. 80, 8, p. 1716-1720 5 p.

Research output: Contribution to journalArticle

29 Scopus citations

Unified huntington’s disease rating scale: Reliability and consistency

Kieburtz, K., Penney, J. B., Corno, P., Ranen, N., Shoulson, I., Feigin, A., Abwender, D., Timothy Greenarnyre, J., Higgins, D., Marshall, F. J., Goldstein, J., Steinberg, K., Shih, C., Richard, I., Hickey, C., Zimmerman, C., Orme, C., Claude, K., Oakes, D., Sax, D. S. & 31 others, Kim, A., Hersch, S., Jones, R., Auchus, A., Olsen, D., Bissey-Black, C., Rubin, A., Schwartz, R., Dubinsky, R., Mallonee, W., Gray, C., Godfrey, N., Suter, G., Shannon, K. M., Stebbins, G. T., Jaglin, J. A., Marder, K., Taylor, S., Louis, E., Moskowitz, C., Thorne, D., Zubin, N., Wexler, N., Swenson, M. R., Paulsen, J., Swerdlow, N., Albin, R., Wernette, C., Walker, F., Martin, W. & Huntington Study Group, Feb 27 2001, In : Neurology. 11, 2, p. 136-142 7 p.

Research output: Contribution to journalArticle

1331 Scopus citations

Use of variable marker density, principal components, and neural networks in the dissection of disease etiology.

Pankratz, N., Kirkwood, S. C., Flury, L., Koller, D. L. & Foroud, T., 2001, In : Genetic epidemiology. 21 Suppl 1, p. S732-737

Research output: Contribution to journalArticle

1 Scopus citations

Weaver syndrome with neuroblastoma and cardiovascular anomalies

Huffman, C., McCandless, D., Jasty, R., Matloub, J., Robinson, H. B., Weaver, D. D. & Cohen, M. M., Mar 15 2001, In : American journal of medical genetics. 99, 3, p. 252-255 4 p.

Research output: Contribution to journalArticle

14 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

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., Jan 1 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

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

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

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

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

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 1 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 1 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

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

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., Jan 1 2002, In : Alcoholism: Clinical and Experimental Research. 26, 5, p. 603-609 7 p.

Research output: Contribution to journalArticle

6 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 1 2002, In : Neuropsychiatry, Neuropsychology and Behavioral Neurology. 15, 3, p. 192-197 6 p.

Research output: Contribution to journalArticle

55 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

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

Plasma membrane Ca2+-ATPase and NCX1 Na+/Ca2+ exchanger expression in distal convoluted tubule cells

Magyar, C. E., White, K. E., Rojas, R., Apodaca, G. & Friedman, P. A., Jul 4 2002, In : American Journal of Physiology - Renal Physiology. 283, 1 52-1, p. F29-F40

Research output: Contribution to journalArticle

47 Scopus citations

Potential role of hematopoietic stem cell transplantation in children with secondary acute lymphocytic leukemia

Melemed, A. S., Vance, G., Kotylo, P. K. & Smith, F. O., Jan 1 2002, In : Bone marrow transplantation. 29, 2, p. 173-175 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

Proficiency testing for laboratories performing fluorescence in situ hybridization with chromosome-specific DNA probes

Mascarello, J. T., Brothman, A. R., Davison, K., Dewald, G. W., Herrman, M., McCandless, D., Park, J. P., Persons, D. L., Rao, K. W., Schneider, N. R., Vance, G. H. & Cooley, L. D., Dec 1 2002, In : Archives of Pathology and Laboratory Medicine. 126, 12, p. 1458-1462 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

Progressive vertebral fusion of unknown etiology: A case report

Farrior, J. H., Weaver, D. D., Kling, T. F. & Klatte, E., Oct 1 2002, In : American Journal of Medical Genetics. 112, 2, p. 221-227 7 p.

Research output: Contribution to journalArticle

4 Scopus citations

Pyruvate carboxylase deficiency - Insights from liver transplantation

Nyhan, W. L., Khanna, A., Barshop, B. A., Naviaux, R. K., Precht, A. F., Lavine, J. E., Hart, M. A., Hainline, B. E., Wappner, R. S., Nichols, S. & Haas, R. H., Oct 29 2002, In : Molecular Genetics and Metabolism. 77, 1-2, p. 143-149 7 p.

Research output: Contribution to journalArticle

20 Scopus citations

Recent drinking history: Association with family history of alcoholism and the acute response to alcohol during a 60 mg% clamp

Ramchandani, V. A., Flury, L., Morzorati, S. L., Kareken, D., Blekher, T., Foroud, T., Li, T. K. & O'Connor, S., Nov 2002, In : Journal of Studies on Alcohol. 63, 6, p. 734-744 11 p.

Research output: Contribution to journalArticle

45 Scopus citations

Saccadic eye movements are associated with a family history of alcoholism at baseline and after exposure to alcohol

Blekher, T., Ramchandani, V. A., Flury, L., Foroud, T., Kareken, D., Yee, R. D., Li, T. K. & O'Connor, S., Oct 2002, In : Alcoholism: Clinical and Experimental Research. 26, 10, p. 1568-1573 6 p.

Research output: Contribution to journalArticle

30 Scopus citations

Suggestive linkage on chromosome 1 for a quantitative alcohol-related phenotype

Dick, D. M., Nurnberger, J., Edenberg, H. J., Goate, A., Crowe, R., Rice, J., Bucholz, K. K., Kramer, J., Schuckit, M. A., Smith, T. L., Porjesz, B., Begleiter, H., Hesselbrock, V. & Foroud, T., Oct 2002, In : Alcoholism: Clinical and Experimental Research. 26, 10, p. 1453-1460 8 p.

Research output: Contribution to journalArticle

72 Scopus citations

Systems analysis of matrix metalloproteinase mRNA expression in skeletal tissues.

Qian, L., Liu, Y., Sun, H. B. & Yokota, H., Jun 1 2002, In : Frontiers in bioscience : a journal and virtual library. 7, p. a126-134

Research output: Contribution to journalArticle

8 Scopus citations

The effect of shared genetic and environmental factors on periodontal disease parameters in untreated adult siblings in Guatemala

Dowsett, S. A., Archila, L., Foroud, T., Koller, D., Eckert, G. J. & Kowolik, M. J., Oct 1 2002, In : Journal of periodontology. 73, 10, p. 1160-1168 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

The embryonic stem cell transcription factors Oct-4 and FoxD3 interact to regulate endodermal-specific promoter expression

Guo, Y., Costa, R., Ramsey, H., Starnes, T., Vance, G., Robertson, K., Kelley, M., Reinbold, R., Scholer, H. & Hromas, R., Mar 19 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 6, p. 3663-3667 5 p.

Research output: Contribution to journalArticle

125 Scopus citations

The role of apolipoprotein A-I helix 10 in apolipoprotein-mediated cholesterol efflux via the ATP-binding cassette transporter ABCA1

Panagotopulos, S. E., Witting, S. R., Horace, E. M., Hui, D. Y., Nicholas Maiorano, J. & Sean Davidson, W., Oct 18 2002, In : Journal of Biological Chemistry. 277, 42, p. 39477-39484 8 p.

Research output: Contribution to journalArticle

108 Scopus citations

Tissue factor deficiency causes cardiac fibrosis and left ventricular dysfunction

Pawlinski, R., Fernandes, A., Kehrle, B., Pedersen, B., Parry, G., Erlich, J., Pyo, R., Gutstein, D., Zhang, J., Castellino, F., Melis, E., Carmeliet, P., Baretton, G., Luther, T., Taubman, M., Rosen, E. & Mackman, N., Nov 26 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 24, p. 15333-15338 6 p.

Research output: Contribution to journalArticle

86 Scopus citations

Titering lentiviral vectors: Comparison of DNA, RNA and marker expression methods

Sastry, L., Johnson, T., Hobson, M. J., Smucker, B. & Cornetta, K., Jan 1 2002, In : Gene Therapy. 9, 17, p. 1155-1162 8 p.

Research output: Contribution to journalArticle

220 Scopus citations
2003

Activated protein C blocks p53-mediated apoptosis in ischemic human brain endothelium and is neuroprotective

Cheng, T., Liu, D., Griffin, J. H., Fernández, J. A., Castellino, F., Rosen, E. D., Fukudome, K. & Zlokovic, B. V., Mar 1 2003, In : Nature Medicine. 9, 3, p. 338-342 5 p.

Research output: Contribution to journalArticle

486 Scopus citations

A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3

Zou, F., Peng, Y., Wang, X., Sun, A., Liu, W., Bai, S., Zhu, H., Gao, B., Feng, G. & He, L., 2003, In : Journal of Human Genetics. 48, 3, p. 155-158 4 p.

Research output: Contribution to journalArticle

Open Access
20 Scopus citations

Analyses of Quantitative Trait Loci Contributing to Alcohol Preference in HAD1/LAD1 and HAD2/LAD2 Rats

Carr, L. G., Habegger, K., Spence, J., Ritchotte, A., Liu, L., Lumeng, L., Li, T. K. & Foroud, T., Nov 1 2003, In : Alcoholism: Clinical and Experimental Research. 27, 11, p. 1710-1717 8 p.

Research output: Contribution to journalArticle

20 Scopus citations

As currently formulated, ISCN FISH nomenclature make it not practical for use in clinical test reports or cytogenetic databases

Mascarello, J. T., Cooley, L. D., Davison, K., Dewald, G. W., Brothman, A. R., Herrman, M., Park, J. P., Persons, D. L., Rao, K. W., Schneider, N. R. & Vance, G. H., Sep 1 2003, In : Genetics in Medicine. 5, 5, p. 370-377 8 p.

Research output: Contribution to journalArticle

5 Scopus citations