Medical & Molecular Genetics

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1993

Genetics of pelizaeus-merzbacher disease

Hodes, M. E., Pratt, V. M. & Dlouhy, S. R., Jan 1 1993, In : Developmental Neuroscience. 15, 6, p. 383-394 12 p.

Research output: Contribution to journalArticle

111 Scopus citations

Infection of human cells with murine amphotropic replication-competent retroviruses

Cornetta, K., Nguyen, N., Morgan, R. A., Muenchau, D. D., Hartley, J. W., Blaese, R. M. & Anderson, W. F., Oct 1993, In : Human gene therapy. 4, 5, p. 579-588 10 p.

Research output: Contribution to journalArticle

44 Scopus citations

Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice

Lamb, B. T., Sisodia, S. S., Lawler, A. M., Slunt, H. H., Kitt, C. A., Kearns, W. G., Pearson, P. L., Price, D. L. & Gearhart, J. D., Sep 1993, In : Nature genetics. 5, 1, p. 22-30 9 p.

Research output: Contribution to journalArticle

266 Scopus citations

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

Pratt, V. M., Kiefer, J. R., Lahdetie, J., Schleutker, J., Hodes, M. E. & Dlouhy, S. R., Jan 1 1993, In : American Journal of Human Genetics. 52, 6, p. 1053-1056 4 p.

Research output: Contribution to journalArticle

20 Scopus citations

Otopalatodigital syndrome type II associated with omphalocele: Report of three cases

Young, K., Barth, C. K., Moore, C. & Weaver, D. D., Feb 3 1993, In : American journal of medical genetics. 45, 4, p. 481-487 7 p.

Research output: Contribution to journalArticle

21 Scopus citations

Persistence of human multilineage, self-renewing lymphohematopoietic stem cells in chimeric sheep

Srour, E. F., Zanjani, E. D., Cornetta, K., Traycoff, C. M., Flake, A. W., Hedrick, M., Brandt, J. E., Leemhuis, T. & Hoffman, R., 1993, In : Blood. 82, 11, p. 3333-3342 10 p.

Research output: Contribution to journalArticle

Open Access
95 Scopus citations

Psychological and ethical considerations in screening for disease

Quaid, K. A., Sep 30 1993, In : The American journal of cardiology. 72, 10, p. D64-D67

Research output: Contribution to journalArticle

15 Scopus citations

Reluctance to undergo predictive testing: The case of Huntington Disease

Quaid, K. A. & Morris, M., Jan 20 1993, In : American journal of medical genetics. 45, 1, p. 41-45 5 p.

Research output: Contribution to journalArticle

146 Scopus citations

Tissue specific and developmental expression of rat long-and medium-chain acyl-CoA dehydrogenases

Hainline, B. E., Kahlenbeck, D. J., Grant, J. & Strauss, A. W., Dec 14 1993, In : BBA - Gene Structure and Expression. 1216, 3, p. 460-468 9 p.

Research output: Contribution to journalArticle

34 Scopus citations
1994

Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish Kindreds) express only PrP peptides encoded by the mutant allele

Tagliavini, F., Prelli, F., Porro, M., Rossi, G., Giaccone, G., Farlow, M. R., Dlouhy, S. R., Ghetti, B., Bugiani, O. & Frangione, B., Nov 18 1994, In : Cell. 79, 4, p. 695-703 9 p.

Research output: Contribution to journalArticle

130 Scopus citations
8 Scopus citations

A retroviral vector expressing human interferon gamma upregulates MHC antigen expression in human breast cancer and leukemia cell lines.

Cornetta, K., Berebitsky, D., Behnia, M., Traycoff, C., Srour, E. F. & Sledge, G. W., Jun 1994, In : Cancer gene therapy. 1, 2, p. 91-98 8 p.

Research output: Contribution to journalArticle

14 Scopus citations

Branchio-oculo-facial syndrome: Broadening the spectrum

McCool, M. & Weaver, D. D., Jan 1 1994, In : American Journal of Medical Genetics. 49, 4, p. 414-421 8 p.

Research output: Contribution to journalArticle

16 Scopus citations

cDNA approaches to isolation of the mouse mutant weaver gene

Hodes, M. E., Dlouhy, S. R., Wei, J. J., Wang, Y., Sangameswaran, L., Lazar, V., Triarhou, L. C. & Ghetti, B., Nov 1 1994, In : Neurochemical Research. 19, 11, p. 1359-1362 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Cerebrospinal fluid levels of amyloid β-protein precursor are low in gerstmann-sträussler-scheinker disease, Indiana kindred

Farlow, M. R., Ghetti, B., Dlouhy, S., Giaccone, G., Bugiani, O., Tagliavini, F. & Wagner, S., Aug 1994, In : Neurology. 44, 8, p. 1508-1510 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Clonal dominance detected in metastases but not primary tumors of retrovirally marked human breast carcinoma injected into nude mice

Cornetta, K., Moore, A., Johannessohn, M. & Sledge, G. W., Jan 1 1994, In : Clinical & Experimental Metastasis. 12, 1, p. 3-12 10 p.

Research output: Contribution to journalArticle

16 Scopus citations

Measurement of marrow repopulating potential of human hematopoietic progenitor and stem cells using a fetal sheep model.

Traycoff, C. M., Hoffman, R., Zanjani, E. D., Cornetta, K., Law, P., Gianni, A. M., Bregni, M., Siena, S., Abboud, M. R. & Laver, J., 1994, In : Progress in clinical and biological research. 389, p. 281-291 11 p.

Research output: Contribution to journalArticle

6 Scopus citations

Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain

Kambouris, M., Sangameswaran, L., Triarhou, L. C., Kozak, C. A., Dlouhy, S. R., Ghetti, B. & Hodes, M. E., Sep 1994, In : Molecular Brain Research. 25, 3-4, p. 192-199 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library

Kambouris, M., Triarhou, L. C., Dlouhy, S. R., Sangameswaran, L., Luo, F., Ghetti, B. & Hodes, M. E., Sep 1994, In : Molecular Brain Research. 25, 3-4, p. 183-191 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

Possible localization of a major gene for cleft lip and palate to 4q

Beiraghi, S., Foroud, T., Diouhy, S., Bixler, D., Conneally, P. M., Delozier‐Blanchet, D. & Hodes, M. E., Sep 1994, In : Clinical Genetics. 46, 3, p. 255-256 2 p.

Research output: Contribution to journalArticle

52 Scopus citations

Quality assurance in the clinical genetics setting-Report of a workshop

Greendale, K., Knutson, C., Pauker, S. P., Lustig, L. & Weaver, D. D., Sep 1 1994, In : Journal of Genetic Counseling. 3, 3, p. 169-198 30 p.

Research output: Contribution to journalArticle

1 Scopus citations

Retroviral mediated gene transfer in chronic myelogenous leukaemia

Cornetta, K., Moore, A., Leemhuis, T., Moen, R. C., Tricot, G., Leibowitz, D. & Hoffman, R., Jan 1 1994, In : British journal of haematology. 87, 2, p. 308-316 9 p.

Research output: Contribution to journalArticle

12 Scopus citations

The neurogenetics genie: Testing for the huntington's disease mutation

Hersch, S. M., Jones, R., Koroshetz, W. & Quaid, K., Aug 1994, In : Neurology. 44, 8, p. 1369-1373 5 p.

Research output: Contribution to journalArticle

33 Scopus citations

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., Reis, A., Varon-Mateeva, R., Macek, M., Kalaydjieva, L., Angelicheva, D., Dancheva, R., Romeo, G., Russo, M. P., Garnerone, S., Restagno, G., Ferrari, M., Magnani, C., Claustres, M., Desgeorges, M. & 11 others, Schwartz, M., Schwarz, M., Dallapiccola, B., Novelli, G., Ferec, C., De Arce, M., Nemeti, M., Kere, J., Anvret, M., Dahl, N. & Kadasi, L., Jun 1994, In : Nature genetics. 7, 2, p. 169-175 7 p.

Research output: Contribution to journalArticle

273 Scopus citations
1995

Aberrant Expression of the Myeloid Zinc Finger Gene, MZF-1, Is Oncogenic

Hromas, R., Morris, J., Cornetta, K., Berebitsky, D., Davidson, A., Sha, M., Sledge, G. & Rauscher, F., Aug 15 1995, In : Cancer Research. 55, 16, p. 3610-3614 5 p.

Research output: Contribution to journalArticle

51 Scopus citations

A deletion hot-spot in exon 7 of the G8α gene (GNAS1) in patients with aibright hereditary osteodystrophy

Yu, S., Yu, D., Hainline, B. E., Brener, J. L., Wilson, K., Wilson, L. C., Oude-luttikhuls, M., Trembath, R. C. & Weinstein, L. S., Oct 1 1995, In : Human molecular genetics. 4, 10, p. 2001-2002 2 p.

Research output: Contribution to journalArticle

56 Scopus citations

Autologous bone marrow transplantation

McCarthy, L. J., Danielson, C. F. M., Cornetta, K., Srour, E. F., Broun, E. R. & Armitage, J. O., Jan 1 1995, In : Critical Reviews in Clinical Laboratory Sciences. 32, 1, p. 67-119 53 p.

Research output: Contribution to journalArticle

2 Scopus citations

Cognitive scores in carriers of huntington's disease gene compared to noncarriers

Foroud, T., Siemers, E., Kleindorfer, D., Bill, D. J., Hodes, M. E., Norton, J. A., Conneally, P. M. & Christian, J. C., May 1995, In : Annals of neurology. 37, 5, p. 657-664 8 p.

Research output: Contribution to journalArticle

111 Scopus citations

Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia

Palmer, C. G., Blouin, J. L., Bull, M. J., Breitfeld, P., Vance, G. H., Van Meter, T., Weaver, D. D., Heerema, N. A., Colbern, S. G., Korenberg, J. R., Antonarakis, S. E. & Chen, X., Jul 10 1995, In : American journal of medical genetics. 57, 4, p. 527-536 10 p.

Research output: Contribution to journalArticle

17 Scopus citations

Dopaminergic parameters in the striatum and substantia nigra of seven strains of mice: Higher density in striatum of CAST compared to BALB mice

Richter, J. A., Brenneman, M. G., Dlouhy, S. R. & Ghetti, B., Apr 1 1995, In : Neurochemical Research. 20, 4, p. 395-400 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Evolving pathogens in allogeneic bone marrow transplantation: Increased fatal adenoviral infections

Blanke, C., Clark, C., Broun, R., Tricot, G., Cunningham, I., Cornetta, K., Hedderman, A. & Hromas, R., Sep 1995, In : The American Journal of Medicine. 99, 3, p. 326-328 3 p.

Research output: Contribution to journalArticle

74 Scopus citations

Exploration of the effects of predictive testing for Huntington disease on intimate relationships

Quaid, K. A. & Wesson, M. K., May 30 1995, In : American Journal of Medical Genetics. 57, 1, p. 46-51 6 p.

Research output: Contribution to journalArticle

66 Scopus citations
20 Scopus citations

Fetal Tissue Derived From Spontaneous Pregnancy Losses Is Insufficient for Human Transplantation

Hainline, B. E., Padilla, L. M., Chong, S. K. F., Heifetz, S. A., Palmer, C. & Zhou, F. C., Apr 1995, In : Obstetrics and gynecology. 85, 4, p. 619-624 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Forced Expression of YL-1 Protein Suppresses the Anchorage-Independent Growth of Kirsten Sarcoma Virus-Transformed NIH3T3 Cells

Horikawa, I., Tanaka, H., Yuasa, Y., Suzuki, M., Shimizu, M. & Oshimura, M., Sep 1995, In : Experimental Cell Research. 220, 1, p. 11-17 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Gerstmann-straussler-scheinker disease (Prnp p102l): Amyloid deposits are best recognized by antibodies directed to epitopes in prp region 90-165

Piccardo, P., Ghetti, B., Dickson, D. W., Vinters, H. V., Giaccone, G., Bugiani, O., Tagliavini, F., Young, K., Dlouhy, S. R., Seiler, C., Jones, C. K., Lazzarini, A., Golbe, L. I., Zimmerman, T. R., Perlman, S. L., McLachlan, D. C., George-Hyslop, P. H. S. & Lennox, A., Nov 1995, In : Journal of Neuropathology and Experimental Neurology. 54, 6, p. 790-801 12 p.

Research output: Contribution to journalArticle

36 Scopus citations

Gerstmann‐Sträussler‐Scheinker Disease and the Indiana Kindred

Ghetti, B., Dlouhy, S. R., Giaccone, G., Bugiani, O., Frangione, B., Farlow, M. R. & Tagliavini, F., Jan 1995, In : Brain Pathology. 5, 1, p. 61-75 15 p.

Research output: Contribution to journalArticle

142 Scopus citations

Gerstmann-straussler-scheinker disease with mutation at codon 102 and methionine at codon 129 of prnp in previously unreported patients

Young, K., Jones, C. K., Piccardo, P., Lazzarini, A., Golbe, L. I., Zimmerman, T. R., Dickson, D. W., McLachlan, D. W., St George-Hyslop, P., Lennox, A., Perlman, S., Vinters, H. V., Hodes, M. E., Dlouhy, S. & Ghetti, B., Jun 1995, In : Neurology. 45, 6, p. 1127-1134 8 p.

Research output: Contribution to journalArticle

46 Scopus citations

Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

Hodes, M. E., DeMyer, W. E., Pratt, V. M., Edwards, M. K. & Dlouhy, S. R., Mar 21 1995, In : American Journal of Medical Genetics. 55, 4, p. 397-401 5 p.

Research output: Contribution to journalArticle

38 Scopus citations

Human chemokines: enhancement of specific activity and effects in vitro on normal and leukemic progenitors and a factor-dependent cell line and in vivo in mice

Broxmeyer, H. E., Cooper, S., Hague, N., Benninger, L., Sarris, A., Cornetta, K., Vadhan-Raj, S., Hendrie, P. & Mantel, C., Nov 1 1995, In : Annals of Hematology. 71, 5, p. 235-246 12 p.

Research output: Contribution to journalArticle

57 Scopus citations

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease

Kleindorfer, D. O., Dlouhy, S. R., Pratt, V. M., Jones, M. C., Trofatter, J. A. & Hodes, M. E., Mar 21 1995, In : American journal of medical genetics. 55, 4, p. 405-407 3 p.

Research output: Contribution to journalArticle

9 Scopus citations

Molecular cloning of a novel human cDNA on chromosome 1q21 and its mouse homolog encoding a nuclear protein with DNA-binding ability

Horikawa, I., Tanaka, H., Yuasa, Y., Suzuki, M. & Oshimura, M., Mar 28 1995, In : Biochemical and Biophysical Research Communications. 208, 3, p. 999-1007 9 p.

Research output: Contribution to journalArticle

14 Scopus citations

Neuroectodermal (CHIME) syndrome: An additional case with long term follow up of all reported cases

Shashi, V., Zunich, J., Kelly, T. E. & Fryburg, J. S., Jun 1995, In : Journal of Medical Genetics. 32, 6, p. 465-469 5 p.

Research output: Contribution to journalArticle

Open Access
23 Scopus citations

Pelizaeus‐Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene

Pratt, V. M., Dlouhy, S. R. & Hodes, M. E., Feb 1995, In : Clinical Genetics. 47, 2, p. 99-100 2 p.

Research output: Contribution to journalArticle

5 Scopus citations

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus

Pratt, V. M., Boyadjiev, S., Green, K., Hodes, M. E. & Dlouhy, S. R., Aug 4 1995, In : American Journal of Medical Genetics. 58, 1, p. 70-73 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene

Pratt, V. M., Boyadjiev, S., Dlouhy, S. R., Silver, K., Der Kaloustian, V. M. & Hodes, M. E., Mar 21 1995, In : American journal of medical genetics. 55, 4, p. 402-404 3 p.

Research output: Contribution to journalArticle

11 Scopus citations

Suitability of Fetal Tissues From Spontaneous Abortions and From Ectopic Pregnancies for Transplantation

Ware Branch, D., Ducat, L., Fantel, A., Low, W. C., Zhou, F. C., Dayton, D. H., Gill, T. J., Bledsoe, S., Chiang, Y. H., Chong, S. K., Hainline, B. E., Heifetz, S. A., Kahlenbeck, D., Low, Q., Padilla, L. M., Palmer, C., Peavy, D., Blazer, B., Blount, J., Christianson, J. & 43 others, Chrysler, G., Conrad, J., Coultrip, L., D'ascoli, P., Eastlund, T., Forbes, J., Gasser, T., Hirschel, M., Kearney, W., Kondoh, T., Jie, Y., Maynard, S., Miller, J., Norris, B., Okagaki, T., Peterson, A., Pundt, L., Sengupta, R., Verfaillie, C., Virnig, B., Weese, K., Williams, P., Feil, K., Hayek, A., Lee, V., Mccormack, M. K., Mcmorris, F. A., Shen Schwarz, S., Trojanowski, J. Q., Byrne, J. L. B., Ward, K., Hillier, S., Hogan, M., Kapur, R., Krohn, M., Leppig, K., Mason, J., Mueller, B., Newman Gage, H., Norwood, T., Rigley, T., Thwin, S. S. & Vick, T., Jan 1995, In : JAMA: The Journal of the American Medical Association. 273, 1, p. 66-68 3 p.

Research output: Contribution to journalArticle

19 Scopus citations

Tandem autotransplantation for the treatment of metastatic breast cancer

Broun, E. R., Sridhara, R., Sledge, G. W., Loesch, D., Kneebone, P. H., Hanna, M., Hromas, R., Cornetta, K. & Einhorn, L. H., Aug 1995, In : Journal of Clinical Oncology. 13, 8, p. 2050-2055 6 p.

Research output: Contribution to journalArticle

43 Scopus citations

The human A1 adenosine receptor: ligand binding properties, sites of somatic expression and chromosomal localization

Rivkees, S. A., Lasbury, M. E., Stiles, G. S., Henegariu, O., Curtis, C. & Vance, G., Sep 1 1995, In : Endocrine. 3, 9, p. 623-629 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

Wooldridge, J. & Zunich, J., Apr 19 1995, In : American Journal of Medical Genetics. 56, 3, p. 258-264 7 p.

Research output: Contribution to journalArticle

38 Scopus citations