Medical & Molecular Genetics

Publications

2000

Tandem intermediate dose melphalan supported by autologous progenitor cells in the management of primary amyloidosis

Abonour, R., Benson, M. D., Robertson, M. J., Robert, H. A. & Kenneth, C., Dec 1 2000, In : Blood. 96, 11 PART II, p. 367b

Research output: Contribution to journalArticle

1 Scopus citations

The CC chemokine CKβ-11/MIP-3β/ELC/exodus 3 mediates tumor rejection of murine breast cancer cells through NK cells

Braun, S. E., Chen, K., Foster, R. G., Kim, C. H., Hromas, R., Kaplan, M. H., Broxmeyer, H. E. & Cornetta, K., Apr 15 2000, In : Journal of Immunology. 164, 8, p. 4025-4031 7 p.

Research output: Contribution to journalArticle

Open Access
113 Scopus citations
30 Scopus citations

Toxicity associated with repeated administration of first-generation adenovirus vectors does not occur with a helper-dependent vector.

O'Neal, W. K., Zhou, H., Morral, N., Langston, C., Parks, R. J., Graham, F. L., Kochanek, S. & Beaudet, A. L., Mar 2000, In : Molecular medicine (Cambridge, Mass.). 6, 3, p. 179-195 17 p.

Research output: Contribution to journalArticle

Open Access
76 Scopus citations

Transplantation of CD34+ peripheral blood cells selected using a fully automated immunomagnetic system in patients with high-risk breast cancer: Results of a prospective randomized multicenter clinical trial

Yanovich, S., Mitsky, P., Cornetta, K., Maziarz, R. T., Rosenfeld, C., Krause, D. S., Lotz, J. P., Bitran, J. D., Williams, S., Preti, R., Somlo, G., Burtness, B. & Mills, B., Jan 1 2000, In : Bone marrow transplantation. 25, 11, p. 1165-1174 10 p.

Research output: Contribution to journalArticle

Open Access
20 Scopus citations

Update on chromosomal locations for psychiatric disorders: Report of the interim meeting of chromosome workshop chairpersons from the VIIth World Congress of Psychiatric Genetics, Monterey; California, October 14-18, 1999

DeLisi, L. E., Craddock, N. J., Detera-Wadleigh, S., Foroud, T., Gejman, P., Kennedy, J. L., Lendon, C., Macciardi, F., McKeon, P., Mynett-Johnson, L., Nurnberger, J. I., Paterson, A., Schwab, S., Van Broeckhoven, C., Wildenauer, D. & Crow, T. J., Jun 12 2000, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 96, 3, p. 434-449 16 p.

Research output: Contribution to journalArticle

36 Scopus citations

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: Skewed in carriers of a duplication and random in carriers of point mutations

Woodward, K., Kirtland, K., Dlouhy, S., Raskind, W., Bird, T., Malcolm, S. & Abeliovich, D., Jun 2000, In : European Journal of Human Genetics. 8, 6, p. 449-454 6 p.

Research output: Contribution to journalArticle

26 Scopus citations
1999

A C. elegans Ror receptor tyresine kinase regulates cell motility and asymmetric cell division

Forrester, W. C., Dell, M., Perens, E. & Garriga, G., Aug 26 1999, In : Nature. 400, 6747, p. 881-885 5 p.

Research output: Contribution to journalArticle

126 Scopus citations

A cell cycle alteration precedes apoptosis of granule cell precursors in the weaver mouse cerebellum

Migheli, A., Piva, R., Casolino, S., Atzori, C., Dlouhy, S. R. & Ghetti, B., Aug 1999, In : American Journal of Pathology. 155, 2, p. 365-373 9 p.

Research output: Contribution to journalArticle

48 Scopus citations

A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype

Slee, R., Grimes, B., Speed, R. M., Taggart, M., Maguire, S. M., Ross, A., McGill, N. I., Saunders, P. T. K. & Cooke, H. J., Jul 6 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 14, p. 8040-8045 6 p.

Research output: Contribution to journalArticle

93 Scopus citations

Amyloid production and deposition in mutant amyloid precursor protein and presenilin-1 yeast artificial chromosome transgenic mice

Lamb, B. T., Bardel, K. A., Kulnane, L. S., Anderson, J. J., Holtz, G., Wagner, S. L., Sisodia, S. S. & Hoeger, E. J., 1999, In : Nature Neuroscience. 2, 8, p. 695-698 4 p.

Research output: Contribution to journalLetter

88 Scopus citations

Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

Takacs, I., Cooper, H., Weaver, D. D. & Econs, M. J., Jul 2 1999, In : American journal of medical genetics. 85, 1, p. 9-12 4 p.

Research output: Contribution to journalArticle

8 Scopus citations

Central corneal pachymetry in patients undergoing laser in situ keratomileusis

Price, F. W., Koller, D. L. & Price, M. O., Nov 1 1999, In : Ophthalmology. 106, 11, p. 2216-2220 5 p.

Research output: Contribution to journalArticle

122 Scopus citations

Chromosome 6 workshop report

Nurnberger, J. I. & Foroud, T., Jun 18 1999, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 88, 3, p. 233-238 6 p.

Research output: Contribution to journalArticle

34 Scopus citations

De novo 10q22 interstitial deletion

Cook, L., Weaver, D. D., Hartsfield, J. K. & Vance, G. H., Mar 9 1999, In : Journal of Medical Genetics. 36, 1, p. 71-72 2 p.

Research output: Contribution to journalArticle

10 Scopus citations

Detection of monosomy 7 in bone marrow by fluorescence in situ hybridization: A study of Fanconi anemia patients and review of the literature

Thurston, V. C., Ceperich, T. M., Vance, G. H. & Heerema, N. A., Mar 1 1999, In : Cancer Genetics and Cytogenetics. 109, 2, p. 154-160 7 p.

Research output: Contribution to journalArticle

21 Scopus citations

Differences in duration of Huntington's disease based on age at onset

Foroud, T., Gray, J., Ivashina, J. & Conneally, P. M., Jan 1999, In : Journal of Neurology Neurosurgery and Psychiatry. 66, 1, p. 52-56 5 p.

Research output: Contribution to journalArticle

Open Access
140 Scopus citations

Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

Hodes, M. E., Zimmerman, A. W., Aydanian, A., Naidu, S., Miller, N. R., Garcia Oller, J. L., Barker, B., Aleck, K. A., Hurley, T. D. & Dlouhy, S. R., Jan 15 1999, In : American journal of medical genetics. 82, 2, p. 132-139 8 p.

Research output: Contribution to journalArticle

27 Scopus citations

Extensive analysis of mosaicism in a case of Turner syndrome: The experience of 287 cytogenetic laboratories

Park, J. P., Brothman, A. R., Butler, M. G., Cooley, L. D., Dewald, G. W., Lundquist, K. F., Palmer, C. G., Patil, S. R., Rao, K. W., Saikevych, I. A., Schneider, N. R. & Vance, G. H., May 18 1999, In : Archives of Pathology and Laboratory Medicine. 123, 5, p. 381-385 5 p.

Research output: Contribution to journalArticle

8 Scopus citations
51 Scopus citations

Factor VII deficiency rescues the intrauterine lethality in mice associated with a tissue factor pathway inhibitor deficit

Chan, J. C. Y., Carmeliet, P., Moons, L., Rosen, E. D., Huang, Z. F., Broze, G. J., Collen, D. & Castellino, F. J., Feb 1999, In : Journal of Clinical Investigation. 103, 4, p. 475-482 8 p.

Research output: Contribution to journalArticle

Open Access
39 Scopus citations

Flt3 ligand antitumor activity in a murine breast cancer model: A comparison with granulocyte-macrophage colony-stimulating factor and a potential mechanism of action

Braun, S. E., Chen, K., Blazar, B. R., Orchard, P. J., Sledge, G., Robertson, M. J., Broxmeyer, H. E. & Cornetta, K., Sep 1 1999, In : Human gene therapy. 10, 13, p. 2141-2151 11 p.

Research output: Contribution to journalArticle

39 Scopus citations

Genetics of alcoholism: A review of recent studies in human and animal models

Foroud, T. & Li, T. K., Sep 1 1999, In : American Journal on Addictions. 8, 4, p. 261-278 18 p.

Research output: Contribution to journalReview article

45 Scopus citations

Genitourinary anomalies in the charge association

Ragan, D. C., Casale, A. J., Rink, R. C., Cain, M. P. & Weaver, D. D., Feb 1999, In : Journal of Urology. 161, 2, p. 622-625 4 p.

Research output: Contribution to journalArticle

45 Scopus citations

Genome screen for platelet monoamine oxidase (MAO) activity

Saccone, N. L., Rice, J. P., Rochberg, N., Goate, A., Reich, T., Shears, S., Wu, W., Nurnberger, J. I., Foroud, T., Edenberg, H. J. & Li, T. K., Oct 15 1999, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 88, 5, p. 517-521 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Growth characteristics of common retroviral packaging cells

Smucker, P. S. & Cornetta, K., Feb 1999, In : Journal of Investigative Medicine. 47, 2, p. 12A

Research output: Contribution to journalArticle

Inhibition of human telomerase in immortal human cells leads to progressive telomere shortening and cell death

Herbert, B. S., Pitts, A. E., Baker, S. I., Hamilton, S. E., Wright, W. E., Shay, J. W. & Corey, D. R., Dec 7 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 25, p. 14276-14281 6 p.

Research output: Contribution to journalArticle

482 Scopus citations

INTRODUCTION OF BARTON CHILDS

Sommer, A., Lubinsky, M., Cichott, M., Gilpin, N. N. S., Weaver, D. D., Ahrens, M. J., Hagen, V. L. M. & Rinehart, P. M., 1999, In : Genetics in Medicine. 1, 5, p. 233-234 2 p.

Research output: Contribution to journalArticle

Joint multipoint linkage analysis of multivariate qualitative and quantitative trait. II. Alcoholism and event-related potentials

Williams, J. T., Begleiter, H., Porjesz, B., Edenberg, H. J., Foroud, T., Reich, T., Goate, A., Van Eerdewegh, P., Almasy, L. & Blangero, J., 1999, In : American Journal of Human Genetics. 65, 4, p. 1148-1160 13 p.

Research output: Contribution to journalArticle

157 Scopus citations

Linkage of type II and type III cystinuria to 19q13.1: Codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone- forming phenotype

Stoller, M. L., Bruce, J. E., Bruce, C. A., Foroud, T., Kirkwood, S. C. & Stambrook, P. J., Sep 10 1999, In : American journal of medical genetics. 86, 2, p. 134-139 6 p.

Research output: Contribution to journalArticle

14 Scopus citations

Locus heterogeneity of autosomal dominant osteopetrosis (ADO)

White, K. E., Koller, D. L., Takacs, I., Buckwalter, K. A., Foroud, T. & Econs, M. J., 1999, In : Journal of Clinical Endocrinology and Metabolism. 84, 3, p. 1047-1051 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers

Kirkwood, S. C., Siemers, E., Stout, J. C., Hodes, M. E., Conneally, P. M., Christian, J. C. & Foroud, T., May 1999, In : Archives of Neurology. 56, 5, p. 563-568 6 p.

Research output: Contribution to journalArticle

91 Scopus citations

Mild autosomal dominant hypophosphatasia: In utero presentation in two families

Moore, C. A., Curry, C. J. R., Henthorn, P. S., Smith, J. A., Smith, J. C., O'Lague, P., Coburn, S. P., Weaver, D. D. & Whyte, M. P., Oct 29 1999, In : American journal of medical genetics. 86, 5, p. 410-415 6 p.

Research output: Contribution to journalArticle

49 Scopus citations

Nonparametric linkage and family-based association studies of a simulated complex disorder

Koller, D. L., Balding, J. & Foroud, T., 1999, In : Genetic epidemiology. 17, SUPPL. 1, p. S627-S632

Research output: Contribution to journalArticle

Open Access

Nucleotide structure and characterization of the murine gene encoding the endothelial cell protein C receptor

Liang, Z., Rosen, E. D. & Castellino, F. J., 1999, In : Thrombosis and Haemostasis. 81, 4, p. 585-588 4 p.

Research output: Contribution to journalArticle

12 Scopus citations

Peripheral neuropathy caused by proteolipid protein gene mutations

Garbern, J. Y., Cambi, F., Lewis, R., Shy, M., Sima, A., Kraft, G., Vallat, J. M., Bosch, E. P., Hodes, M. E., Dlouhy, S., Raskind, W., Bird, T., Macklin, W. & Kamholz, J., 1999, In : Annals of the New York Academy of Sciences. 883, p. 351-365 15 p.

Research output: Contribution to journalArticle

38 Scopus citations

Rapid titer determination using quantitative real-time PCR

Sanburn, N. & Cornetta, K., Jul 1 1999, In : Gene Therapy. 6, 7, p. 1340-1345 6 p.

Research output: Contribution to journalArticle

46 Scopus citations

Sibling pair linkage and association studies between bone mineral density and the insulin-like growth factor I gene locus

Takacs, I., Koller, D. L., Peacock, M., Christian, J. C., Hui, S. L., Conneally, P. M., Johnston, C. C., Foroud, T. & Econs, M. J., 1999, In : Journal of Clinical Endocrinology and Metabolism. 84, 12, p. 4467-4471 5 p.

Research output: Contribution to journalArticle

54 Scopus citations

Telomerase-independent senescence of human immortal cells induced by microcell-mediated chromosome transfer

Tanaka, H., Horikawa, I., Kugoh, H., Shimizu, M., Barrett, J. C. & Oshimura, M., 1999, In : Molecular Carcinogenesis. 25, 4, p. 249-255 7 p.

Research output: Contribution to journalArticle

12 Scopus citations

Tentative association of the serotonin transporter with schizophrenia and unipolar depression but not with bipolar disorder in Han Chinese

Liu, W., Gu, N., Feng, G., Li, S., Bai, S., Zhang, J., Shen, T., Xue, H., Breen, G., St Clair, D. & He, L., Sep 15 1999, In : Pharmacogenetics. 9, 4, p. 491-495 5 p.

Research output: Contribution to journalArticle

53 Scopus citations

Tentative novel mechanism of the bystander effect in glioma gene therapy with HSV-TK/GCV system

Bai, S., Du, L., Liu, W., Whittle, I. R. & He, L., Jun 7 1999, In : Biochemical and Biophysical Research Communications. 259, 2, p. 455-459 5 p.

Research output: Contribution to journalArticle

26 Scopus citations

Tissue-specific methylation differences in a fragile X premutation carrier

Tassone, F., Longshore, J., Zunich, J., Steinbach, P., Salat, U. & Taylor, A. K., 1999, In : Clinical Genetics. 55, 5, p. 346-352 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors

Pastore, L., Morral, N., Zhou, H., Garcia, R., Parks, R. J., Kochanek, S., Graham, F. L., Lee, B. & Beaudet, A. L., Jul 20 1999, In : Human gene therapy. 10, 11, p. 1773-1781 9 p.

Research output: Contribution to journalArticle

148 Scopus citations

Use of merocyanine 540 for the isolation of quiescent, primitive human bone marrow hematopoietic progenitor cells

Pyatt, R. E., Jenski, L. L., Allen, R., Cornetta, K., Abonour, R., Traycoff, C. M. & Srour, E. F., 1999, In : Journal of Hematotherapy. 8, 2, p. 189-198 10 p.

Research output: Contribution to journalArticle

2 Scopus citations
1998

49,XXXXY: A distinct phenotype. Three new cases and review

Peet, J., Weaver, D. D. & Vance, G. H., 1998, In : Journal of Medical Genetics. 35, 5, p. 420-424 5 p.

Research output: Contribution to journalArticle

Open Access
69 Scopus citations

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease [3]

Hodes, M. E., Aydanian, A., Dlouhy, S. R., Whelan, D. T., Heshka, T. & Ronen, G., 1998, In : Clinical Genetics. 54, 3, p. 248-249 2 p.

Research output: Contribution to journalLetter

2 Scopus citations

A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism

Edenberg, H. J., Foroud, T., Koller, D. L., Goate, A., Rice, J., Van Eerdewegh, P., Reich, T., Cloninger, C. R., Nurnberger, J. I., Kowalczuk, M., Wu, B., Li, T. K., Conneally, P. M., Tischfield, J. A., Wu, W., Shears, S., Crowe, R., Hesselbrock, V., Schuckit, M., Porjesz, B. & 1 others, Begleiter, H., 1998, In : Alcoholism: Clinical and Experimental Research. 22, 2, p. 505-512 8 p.

Research output: Contribution to journalArticle

98 Scopus citations

A family-based analysis of whether the functional promoter alleles of the serotonin transporter gene HTT affect the risk for alcohol dependence

Edenberg, H. J., Reynolds, J., Koller, D. L., Begleiter, H., Bucholz, K. K., Conneally, P. M., Crowe, R., Goate, A., Hesselbrock, V., Li, T. K., Nurnberger, J. I., Porjesz, B., Reich, T., Rice, J. P., Schuckit, M., Tischfield, J. A. & Foroud, T., Aug 1998, In : Alcoholism: Clinical and Experimental Research. 22, 5, p. 1080-1085 6 p.

Research output: Contribution to journalArticle

84 Scopus citations

Altered responses to potassium in cerebellar neurons from weaver heterozygote mice

Fox, A. P., Dlouhy, S., Ghetti, B., Hurley, J. H., Nucifora, P. G. P., Nelson, D. J., Won, L. & Heller, A., Nov 30 1998, In : Experimental Brain Research. 123, 3, p. 298-306 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

Amplitude of visual P3 event-related potential as a phenotypic marker for a predisposition to alcoholism: Preliminary results from the COGA project

Porjesz, B., Begleiter, H., Reich, T., Van Eerdewegh, P., Edenberg, H. J., Foroud, T., Goate, A., Litke, A., Chorlian, D. B., Stimus, A., Rice, J., Blangero, J., Almasy, L., Sorbell, J., Bauer, L. O., Kuperman, S., O'Connor, S. J. & Rohrbaugh, J., Sep 1998, In : Alcoholism: Clinical and Experimental Research. 22, 6, p. 1317-1323 7 p.

Research output: Contribution to journalArticle

105 Scopus citations