Medical & Molecular Genetics

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1995

Two Cycles of High Dose Chemotherapy with Autologous Bone Marrow Support for Patients with Locally Advanced Breast Cancer

Broun, E. R., Sledge, G. W., Loesch, D., Cornetta, K., Hromas, R., Kneebone, P., Lottich, C., Schmidt, T. R. & Einhorn, L. H., Sep 1995, In : The Breast Journal. 1, 5, p. 308-314 7 p.

Research output: Contribution to journalArticle

1996

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Nance, M. A., Boyadjiev, S., Pratt, V. M., Taylor, S., Hodes, M. E. & Dlouhy, S. R., Nov 1996, In : Neurology. 47, 5, p. 1333-1335 3 p.

Research output: Contribution to journalArticle

32 Scopus citations

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

Sun, Y., Nicholls, R. D., Butler, M. G., Saitoh, S., Hainline, B. E. & Palmer, C. G., Apr 1996, In : Human molecular genetics. 5, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

63 Scopus citations

Cloning a cDNA for carbonyl reductase (Cbr) from mouse cerebellum: Murine genes that express Cbr map to chromosomes 16 and 11

Jianjun, W., Dlouhy, S. R., Hara, A., Ghetti, B. & Hodes, M. E., May 15 1996, In : Genomics. 34, 1, p. 147-148 2 p.

Research output: Contribution to journalArticle

18 Scopus citations

Development of a complementing cell line and a system for construction of adenovirus vectors with E1 and E2a deleted

Zhou, H., O'Neal, W., Morral, N. & Beaudet, A. L., Oct 1996, In : Journal of virology. 70, 10, p. 7030-7038 9 p.

Research output: Contribution to journalArticle

Open Access
80 Scopus citations

Dicentric (9;20)(p11;q11) identified by fluorescence in situ hybridization in four pediatric acute lymphoblastic leukemia patients

Heerema, N. A., Maben, K. D., Bernstein, J., Breitfeld, P. P., Neiman, R. S. & Vance, G. H., Dec 1 1996, In : Cancer Genetics and Cytogenetics. 92, 2, p. 111-115 5 p.

Research output: Contribution to journalArticle

27 Scopus citations

Direct cDNA selection with DNA microdissected from mouse chromosome 16: Isolation of novel clones and construction of a partial transcription map of the C3-C4 region

Wei, J., Hodes, M. E., Wang, Y., Feng, Y., Ghetti, B. & Dlouhy, S. R., Aug 1996, In : Genome research. 6, 8, p. 678-687 10 p.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations
85 Scopus citations

Forced over-expression of the myeloid zinc finger gene MZF-1 inhibits apoptosis and promotes oncogenesis in interleukin-3-dependent FDCP.1 cells

Hromas, R., Boswell, S., Shen, R. N., Burgess, G., Davidson, A., Cornetta, K., Sutton, J. & Robertson, K., Jun 1996, In : Leukemia. 10, 6, p. 1049-1050 2 p.

Research output: Contribution to journalArticle

23 Scopus citations

Human gene marker/therapy clinical protocols.

Rosenberg, S. A., Blaese, R. M., Brenner, M. K., Deisseroth, A. B., Ledley, F. D., Lotze, M. T., Wilson, J. M., Nabel, G. J., Cornetta, K., Economou, J. S., Freeman, S. M., Riddell, S. R., Oldfield, E., Gansbacher, B., Dunbar, C., Walker, R. E., Schuening, F. G., Roth, J. A., Crystal, R. G., Welsh, M. J. & 5 others, Culver, K., Heslop, H. E., Simons, J., Wilmott, R. W. & Aebischer, P., Aug 20 1996, In : Human gene therapy. 7, 13, p. 1621-1647 27 p.

Research output: Contribution to journalArticle

13 Scopus citations

Human gene marker/therapy clinical protocols.

Rosenberg, S. A., Blaese, R. M., Brenner, M. K., Deisseroth, A. B., Ledley, F. D., Lotze, M. T., Wilson, J. M., Nabel, G. J., Cornetta, K., Economou, J. S., Freeman, S. M., Riddell, S. R., Oldfield, E., Gansbacher, B., Dunbar, C., Walker, R. E., Schuening, F. G., Roth, J. A., Crystal, R. G., Welsh, M. J. & 5 others, Culver, K., Heslop, H. E., Simons, J., Wilmott, R. W. & Tiberghien, P., Dec 1 1996, In : Human gene therapy. 7, 18, p. 2287-2313 27 p.

Research output: Contribution to journalArticle

13 Scopus citations

Issues in genetic testing for susceptibility to alcoholism: Lessons from Alzheimer's disease and Huntington's disease

Quaid, K. A., Dinwiddie, S. H., Michael Conneally, P. & Nurnberger, J. I., Jan 1 1996, In : Alcoholism: Clinical and Experimental Research. 20, 8, p. 1430-1437 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Linkage mapping of microdissected clones from distal mouse chromosome 16

Wei, J., Dlouhy, S. R., Wang, Y., Zhu, J., Fitzpatrick, L., Ghetti, B. & Hodes, M. E., May 1 1996, In : Somatic Cell and Molecular Genetics. 22, 3, p. 227-232 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Lymphocytosis of donor origin in cerebrospinal fluid, and marrow aplasia after donor leukocyte infusion for EBV-lymphoproliferative disease

Gharpure, V., Rubin, L., Amlin, J., Emanuel, D., Schroeder, W., Davidson, A., Hromas, R. & Cornetta, K., Jul 1 1996, In : Bone marrow transplantation. 18, 1, p. 221-224 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Minimizing graft rejection in allogeneic T cell-depleted bone marrow transplantation

Rigden, J. P., Cornetta, K., Srour, E. F., Hanna, M., Broun, E. R., Hromas, R., Baute, J., Hilton, J., Cox, E., Rubin, L., Gonin, R. & Tricot, G., Nov 1 1996, In : Bone Marrow Transplantation. 18, 5, p. 913-919 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism

Van Meter, T. D. & Weaver, D. D., Aug 23 1996, In : Clinical Dysmorphology. 5, 3, p. 187-196 10 p.

Research output: Contribution to journalArticle

53 Scopus citations

Phenotypic effects of the weaver gene are evident in the embryonic cerebellum but not in the ventral midbrain

Bayer, S. A., Wills, K. V., Wei, J., Feng, Y., Dlouhy, S. R., Hodes, M. E., Verina, T. & Ghetti, B., Oct 23 1996, In : Developmental Brain Research. 96, 1-2, p. 130-137 8 p.

Research output: Contribution to journalArticle

23 Scopus citations

Platelet loss during peripheral blood progenitor cell collections

McCarthy, L. J., Danielson, C., Orazi, A., Skipworth, E., Jackson, L., Graves, V., Gharpure, V. & Cornetta, K., Jan 1 1996, In : Transfusion Science. 17, 3, 1 p.

Research output: Contribution to journalArticle

Proteinase-K-resistant prion protein isoforms in Gerstmann-Straussler- Scheinker disease (Indiana kindred)

Piccardo, P., Seiler, C., Dlouhy, S. R., Young, K., Farlow, M. R., Prelli, F., Frangione, B., Bugiani, O., Tagliavini, F. & Ghetti, B., Nov 1996, In : Journal of Neuropathology and Experimental Neurology. 55, 11, p. 1157-1163 7 p.

Research output: Contribution to journalArticle

Open Access
45 Scopus citations

Retroviral gene transfer in autologous bone marrow transplantation for adult acute leukemia

Cornetta, K., Srour, E. F., Moore, A., Davidson, A., Broun, E. R., Hromas, R., Moen, R. C., Morgan, R. A., Rubin, L., Anderson, W. F., Hoffman, R. & Tricot, G., Jul 10 1996, In : Human Gene Therapy. 7, 11, p. 1323-1329 7 p.

Research output: Contribution to journalArticle

27 Scopus citations

The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2

Tong, Y., Wei, J., Zhang, S., Strong, J. A., Dlouhy, S. R., Hodes, M. E., Ghetti, B. & Yu, L., Jul 15 1996, In : FEBS Letters. 390, 1, p. 63-68 6 p.

Research output: Contribution to journalArticle

47 Scopus citations

Toward quality assurance for metaphase FISH: A multicenter experience

Dewald, G. W., Stallard, R., Bader, P. I., Chen, K., Zenger-Hain, J., Harris, C. J., Higgins, R., Hirsch, B., Hsu, W. T., Johnson, E., Kubic, V., Kurczynski, T. W., Malone, J. M., McCorquodale, D. J., Meilinger, K., Meisner, L. F., Moore, J. W., Schwartz, S., Siembieda, S., Storto, P. D. & 4 others, Vance, G., Van Tuinen, P., Wiktor, A. & Yung, J. F., Oct 28 1996, In : American journal of medical genetics. 65, 3, p. 190-196 7 p.

Research output: Contribution to journalArticle

7 Scopus citations

Toward Quality Assurance for Metaphase FISH: A Multi-Center Experience

Dewald, G., Stallard, R., Bader, P. I., Chen, K., Zenger-Hain, J., Harris, C. J., Higgins, R., Hirsch, B., Hsu, W. T., Johnson, E., Kubic, V., Kurczynski, T. W., Malone, J. M., McCorquodale, D. J., Meilinger, K., Meisner, L. F., Moore, J. W., Schwartz, S., Siembieda, S., Storto, P. D. & 4 others, Vance, G., Van Tuinen, P., Wiktor, A. & Yung, J. F., Jan 1 1996, In : American Journal of Medical Genetics - Seminars in Medical Genetics. 64, 4, p. 539-545 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Transduction of human interleukin-9 receptor gene into human cord blood erythroid progenitors increases the number of erythropoietin-dependent erythroid colonies

Xiao, M., Yang, Y. C., Yang, L., Chang, M. S., Cornetta, K., Broxmeyer, H. E. & Lu, L., Dec 1 1996, In : Bone marrow transplantation. 18, 6, p. 1103-1109 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Vascular variant of prion protein cerebral amyloidosis with τ-positive neurofibrillary tangles: The phenotype of the stop codon 145 mutation in PRNP

Ghetti, B., Piccardo, P., Spillantini, M. G., Ichimiya, Y., Porro, M., Perini, F., Kitamoto, T., Tateishi, J., Seiler, C., Frangione, B., Bugiani, O., Giaccone, G., Prelli, F., Goedert, M., Dlouhy, S. R. & Tagliavini, F., Jan 23 1996, In : Proceedings of the National Academy of Sciences of the United States of America. 93, 2, p. 744-748 5 p.

Research output: Contribution to journalArticle

232 Scopus citations
1997

A case with mosaic di-, tetra-, and octacentric ring Y chromosomes

Henegariu, O., Pescovitz, O. H., Vance, G. H., Verbrugge, J. & Heerema, N. A., Sep 5 1997, In : American journal of medical genetics. 71, 4, p. 426-429 4 p.

Research output: Contribution to journalArticle

19 Scopus citations

A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria

Naidu, S., Dlouhy, S. R., Geraghty, M. T. & Hodes, M. E., Dec 4 1997, In : Journal of Inherited Metabolic Disease. 20, 6, p. 811-816 6 p.

Research output: Contribution to journalArticle

15 Scopus citations

An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences

Vance, G. H., Curtis, C. A., Heerema, N. A., Schwartz, S. & Palmer, C. G., Sep 5 1997, In : American Journal of Medical Genetics. 71, 4, p. 436-442 7 p.

Research output: Contribution to journalArticle

18 Scopus citations

Antitumor activity and immunotherapeutic properties of Flt3-ligand in a murine breast cancer model

Chen, K., Braun, S., Lyman, S., Fan, Y., Traycoff, C. M., Wiebke, E. A., Gaddy, J., Sledge, G., Broxmeyer, H. E. & Cornetta, K., Aug 15 1997, In : Cancer Research. 57, 16, p. 3511-3516 6 p.

Research output: Contribution to journalArticle

108 Scopus citations

Association of the angiotensinogen gene to serum angiotensinogen in blacks and whites

Bloem, L. J., Foroud, T. M., Ambrosius, W. T., Hanna, M. P., Tewksbury, D. A. & Pratt, J. H., May 1997, In : Hypertension. 29, 5, p. 1078-1082 5 p.

Research output: Contribution to journalArticle

73 Scopus citations

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA

Depinet, T. W., Zackowski, J. L., Earnshaw, W. C., Kaffe, S., Sekhon, G. S., Stallard, R., Sullivan, B. A., Vance, G. H., Van Dyke, D. L., Willard, H. F., Zinn, A. B. & Schwartz, S., Aug 1 1997, In : Human molecular genetics. 6, 8, p. 1195-1204 10 p.

Research output: Contribution to journalArticle

128 Scopus citations

Diverse cell death pathways result from a single missense mutation in weaver mouse

Migheli, A., Piva, R., Wei, J., Attanasio, A., Casolino, S., Hodes, M. E., Dlouhy, S. R., Bayer, S. A. & Ghetti, B., Dec 1 1997, In : American Journal of Pathology. 151, 6, p. 1629-1638 10 p.

Research output: Contribution to journalArticle

39 Scopus citations

Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17

Murrell, J. R., Koller, D., Foroud, T., Goedert, M., Spillantini, M. G., Edenberg, H. J., Farlow, M. R. & Ghetti, B., Nov 1997, In : American Journal of Human Genetics. 61, 5, p. 1131-1138 8 p.

Research output: Contribution to journalArticle

64 Scopus citations

Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene

Bond, C., Si, X., Crisp, M., Wong, P., Paulson, G. W., Boesel, C. P., Dlouhy, S. R. & Hodes, M. E., Aug 19 1997, In : American Journal of Medical Genetics. 71, 3, p. 357-360 4 p.

Research output: Contribution to journalArticle

13 Scopus citations

Genomic survey of bipolar illness in the NIMH genetics initiative pedigrees: A preliminary report

Nurnberger, J. I., DePaulo, J. R., Gershon, E. S., Reich, T., Blehar, M. C., Edenberg, H. J., Foroud, T., Miller, M., Bowman, E., Mayeda, A., Rau, N. L., Smiley, C., Conneally, P. M., McMahon, F., Meyers, D., Simpson, S., McInnis, M., Stine, O. C., Detera-Wadleigh, S., Goldin, L. & 9 others, Guroff, J., Maxwell, E., Kazuba, D., Gejman, P. V., Badner, J., Sanders, A., Rice, J., Bierut, L. & Goate, A., Jun 26 1997, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 74, 3, p. 227-237 11 p.

Research output: Contribution to journalArticle

115 Scopus citations

Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

Young, K., Clark, H. B., Piccardo, P., Dlouhy, S. R. & Ghetti, B., Feb 1 1997, In : Molecular Brain Research. 44, 1, p. 147-150 4 p.

Research output: Contribution to journalArticle

47 Scopus citations

Human gene marker/therapy clinical protocols.

Rosenberg, S. A., Blaese, R. M., Brenner, M. K., Deisseroth, A. B., Ledley, F. D., Lotze, M. T., Wilson, J. M., Nabel, G. J., Cornetta, K., Economou, J. S., Freeman, S. M., Riddell, S. R., Oldfield, E., Gansbacher, B., Dunbar, C., Walker, R. E., Schuening, F. G., Roth, J. A., Crystal, R. G., Welsh, M. J. & 5 others, Culver, K., Heslop, H. E., Simons, J., Wilmott, R. W. & Boucher, R. C., Dec 10 1997, In : Human gene therapy. 8, 18, p. 2301-2338 38 p.

Research output: Contribution to journalArticle

23 Scopus citations

Initial genome scan of the nimh genetics initiative bipolar pedigrees: Chromosomes 1, 6, 8, 10, and 12

Rice, J. P., Goate, A., Williams, J. T., Bierut, L., Dorr, D., Wu, W., Shears, S., Gopalakrishnan, G., Edenberg, H. J., Foroud, T., Nurnberger, J., Gershon, E. S., Detera-Wadleigh, S. D., Goldin, L. R., Guroff, J. J., McMahon, F. J., Simpson, S., MacKinnon, D., McInnis, M., Stine, O. C. & 3 others, DePaulo, J. R., Blehar, M. C. & Reich, T., Jun 26 1997, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 74, 3, p. 247-253 7 p.

Research output: Contribution to journalArticle

109 Scopus citations

Initial genome scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 4, 7, 9, 18, 19, 20, and 21q

Detera-Wadleigh, S. D., Badner, J. A., Yoshikawa, T., Sanders, A. R., Goldin, L. R., Turner, G., Rolling, D. Y., Moses, T., Guroff, J. J., Kazuba, D., Maxwell, M. E., Edenberg, H. J., Foroud, T., Lahiri, D., Nurnberger, J. I., Stine, O. C., McMahon, F., Meyers, D. A., MacKinnon, D., Simpson, S. & 7 others, McInnis, M., DePaulo, J. R., Rice, J., Goate, A., Reich, T., Blehar, M. C. & Gershon, E. S., Jun 26 1997, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 74, 3, p. 254-262 9 p.

Research output: Contribution to journalArticle

115 Scopus citations

Initial genome screen for bipolar disorder in the NIMH genetics initiative pedigrees: Chromosomes 2, 11, 13, 14, and x

Stine, O. C., McMahon, F. J., Chen, L. S., Xu, J., Meyers, D. A., MacKinnon, D. F., Simpson, S., McInnis, M. G., Rice, J. P., Goate, A., Reich, T., Edenberg, H. J., Foroud, T., Nurnberger, J. I., Detera-Wadleigh, S. D., Goldin, L. R., Guroff, J., Gershon, E. S., Blehar, M. C. & DePaulo, J. R., Jun 26 1997, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 74, 3, p. 263-269 7 p.

Research output: Contribution to journalArticle

93 Scopus citations

Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22

Edenberg, H. J., Foroud, T., Conneally, P. M., Sorbel, J. J., Carr, K., Crose, C., Willig, C., Zhao, J., Miller, M., Bowman, E., Mayeda, A., Rau, N. L., Smiley, C., Rice, J. P., Goate, A., Reich, T., Stine, O. C., McMahon, F., DePaulo, J. R., Meyers, D. & 5 others, Detera-Wadleigh, S. D., Goldin, L. R., Gershon, E. S., Blehar, M. C. & Nurnberger, J. I., Jun 26 1997, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 74, 3, p. 238-246 9 p.

Research output: Contribution to journalArticle

144 Scopus citations

Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32

Nichols, W. C., Koller, D. L., Slovis, B., Foroud, T., Terry, V. H., Arnold, N. D., Siemieniak, D. R., Wheeler, L., Phillips, J. A., Newman, J. H., Conneally, P. M., Ginsburg, D. & Loyd, J. E., Mar 1 1997, In : Nature genetics. 15, 3, p. 277-280 4 p.

Research output: Contribution to journalArticle

221 Scopus citations

Mild "duplication 6q syndrome": A case with partial trisomy (6)(q23.3q25.3)

Henegariu, O., Heerema, N. A. & Vance, G. H., Feb 11 1997, In : American Journal of Medical Genetics. 68, 4, p. 450-454 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

Molecular cytogenetic identification of four X chromosome duplications

Zhang, A., Weaver, D. D. & Palmer, C. G., Jan 10 1997, In : American journal of medical genetics. 68, 1, p. 29-38 10 p.

Research output: Contribution to journalArticle

30 Scopus citations

Multiplex PCR: Critical parameters and step-by-step protocol

Henegariu, O., Heerema, N. A., Dlouhy, S. R., Vance, G. H. & Vogt, P. H., Sep 1 1997, In : BioTechniques. 23, 3, p. 504-511 8 p.

Research output: Contribution to journalArticle

682 Scopus citations
16 Scopus citations

Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of pelizaeus-merzbacher disease

Hodes, M. E., Blank, C. A., Pratt, V. M., Morales, J., Napier, J. & Dlouhy, S. R., Mar 17 1997, In : American Journal of Medical Genetics. 69, 2, p. 121-125 5 p.

Research output: Contribution to journalArticle

39 Scopus citations

Preferential sequestration in vitro of BCR/ABL negative hematopoietic progenitor cells among cytokine nonresponsive CML marrow CD34+ cells

Veena, P., Cornetta, K., Davidson, A., Agüero, B., McMahel, J., Traycoff, C. M. & Srour, E. F., Jun 2 1997, In : Bone marrow transplantation. 19, 12, p. 1213-1221 9 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Proteolipid protein is necessary in peripheral as well as central myelin

Garbern, J. Y., Cambi, F., Tang, X. M., Sima, A. A. F., Vallat, J. M., Bosch, E. P., Lewis, R., Shy, M., Sohi, J., Kraft, G., Chen, K. L., Joshi, I., Leonard, D. G. B., Johnson, W., Raskind, W., Dlouhy, S. R., Pratt, V., Hodes, M. E., Bird, T. & Kamholz, J., Jul 1997, In : Neuron. 19, 1, p. 205-218 14 p.

Research output: Contribution to journalArticle

116 Scopus citations

Retroviral gene therapy in hematopoietic diseases

Cornetta, K. & Fan, Y., Dec 1 1997, In : Journal of Clinical Apheresis. 12, 4, p. 187-193 7 p.

Research output: Contribution to journalArticle

3 Scopus citations