Medical & Molecular Genetics

Publications

1998

The syndromes of Sotos and Weaver: Reports and review

Opitz, J. M., Weaver, D. W. & Reynolds, J. F., Oct 2 1998, In : American journal of medical genetics. 79, 4, p. 294-304 11 p.

Research output: Contribution to journalArticle

105 Scopus citations

Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing α1-antitrypsin after systemic delivery

O'Neal, W. K., Zhou, H., Morral, N., Aguilar-Cordova, E., Pestaner, J., Langston, C., Mull, B., Wang, Y., Beaudet, A. L. & Lee, B., Jul 20 1998, In : Human gene therapy. 9, 11, p. 1587-1598 12 p.

Research output: Contribution to journalArticle

101 Scopus citations

Triple-color FISH analysis of 12p amplification in testicular germ-cell tumors using 12p band-specific painting probes

Henegariu, O., Vance, G. H., Heiber, D., Pera, M. & Heerema, N. A., Jan 1 1998, In : Journal of Molecular Medicine. 76, 9, p. 648-655 8 p.

Research output: Contribution to journalArticle

35 Scopus citations

Twelfth Annual Symposia on Etiology, Pathogenesis, and Treatment of Parkinson's Disease and Etiology, Pathogenesis, and Treatment of Huntington's Disease, Queen Elizabeth Hotel, Montreal, Canada, 18 October 1998

Kieburtz, K., Frey, K., Albin, R., Marek, K., Bates, G., Aylward, E., Guttman, M., Rouleau, G., Baehr, M., Pahwa, R., Lyons, K. E., Wilkinson, S. B., Kieltyka, J., Koller, W. C., Bertoni, J. M., Strickland, D., Eberly, C., Seeland, M., Brewer, M., Stacy, M. & 57 others, Ellgring, H., Pfeiffer, B., Ulm, G., Factor, S. A., Seibyl, J., Innis, R., Marek, K., Frey, K. A., Bohnen, N. I., Elmer, L. W., Koeppe, R. A., Kilbourn, M. R., Lyons, K. E., Troster, A. I., DeCarti, C., Paulson, G. W., Sax, D. S., Kornetsky, C., Siemers, E. R., Hubble, J., Tuite, P., Comella, C., Kompoliti, K., Oakes, D., Wojcieszek, J., Foroud, T., Conneally, P. M., Takanashi, M., Abe, K., Yanagihara, T., Weiner, W. J., Minagar, A., Shulman, L. M., Zakzanis, K. K., Kaplan, E., Leach, L., Freedman, M., Zesiewicz, T. A., Cardoza, F., Malik, A., Willing, A., Sanchez-Ramos, J., Hauser, R. A., Cha, J. H. J., Frey, A. S., Menon, A. S., Chung, W. M., Alsdorf, S. A., Mangiarini, L., Davies, S. W., Penney, J. B., Bates, G. P., Young, A. B., Moskowitz, C. B., Quinn, L., Francis, K. & Schwartz, R., 1998, In : Movement Disorders. 13, 5, p. 858-863 6 p.

Research output: Contribution to journalArticle

Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene

Brensinger, J. D., Laken, S. J., Luce, M. C., Powell, S. M., Vance, G. H., Ahnen, D. J., Petersen, G. M., Hamilton, S. R. & Giardiello, F. M., 1998, In : Gut. 43, 4, p. 548-552 5 p.

Research output: Contribution to journalArticle

Open Access
98 Scopus citations

Weaver syndrome: Autosomal dominant inheritance of the disorder

Proud, V. K., Braddock, S. R., Cook, L. & Weaver, D. D., Oct 2 1998, In : American journal of medical genetics. 79, 4, p. 305-310 6 p.

Research output: Contribution to journalArticle

26 Scopus citations

X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)

Hodes, M. E., Hadjisavvas, A., Butler, I. J., Aydanian, A. & Dlouhy, S. R., Feb 17 1998, In : American journal of medical genetics. 75, 5, p. 516-517 2 p.

Research output: Contribution to journalArticle

7 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

Altered metabolism of familial Alzheimer's disease linked amyloid precursor protein variants in yeast artificial chromosome transgenic mice

Lamb, B. T., Call, L. M., Slunt, H. H., Bardel, K. A., Lawler, A. M., Eckman, C. B., Younkin, S. G., Holtz, G., Wagner, S. L., Price, D. L., Sisodia, S. S. & Gearhart, J. D., Sep 1997, In : Human molecular genetics. 6, 9, p. 1535-1541 7 p.

Research output: Contribution to journalArticle

103 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., 1997, In : Journal of Inherited Metabolic Disease. 20, 6, p. 811-816 6 p.

Research output: Contribution to journalArticle

16 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

A reintroduction to Mendelian genetics

Dlouhy, S. R., Jan 1 1997, In : Cancer Investigation. 15, 5, p. 429-434 6 p.

Research output: Contribution to journalComment/debate

1 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 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 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., 1997, In : American journal of medical genetics. 71, 3, p. 357-360 4 p.

Research output: Contribution to journalArticle

13 Scopus citations

Genes necessary for C. elegans cell and growth cone migrations

Forrester, W. C. & Garriga, G., May 1997, In : Development. 124, 9, p. 1831-1843 13 p.

Research output: Contribution to journalArticle

106 Scopus citations

Gene therapy strategies for leukemia

Braun, S. E., Chen, K., Battiwalla, M. & Cornetta, K., Dec 1 1997, In : Molecular Medicine Today. 3, 1, p. 39-46 8 p.

Research output: Contribution to journalReview article

6 Scopus citations

Genomewide search for genes influencing percent body fat in Pima Indians: Suggestive linkage at chromosome 11q21-q22

Norman, R. A., Thompson, D. B., Foroud, T., Garvey, W. T., Bennett, P. H., Bogardus, C., Ravussin, E., Allan, C., Baier, L., Bowden, D., Hanson, R., Knowler, W., Kobes, S., Pettitt, D. & Prochazka, M., Jan 1997, In : American Journal of Human Genetics. 60, 1, p. 166-173 8 p.

Research output: Contribution to journalArticle

130 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., 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

Immune responses to reporter proteins and high viral dose limit duration of expression with adenoviral vectors: Comparison of E2a wild type and E2a deleted vectors

Morral, N., O'Neal, W., Zhou, H., Langston, C. & Beaudet, A., Jul 1 1997, In : Human gene therapy. 8, 10, p. 1275-1286 12 p.

Research output: Contribution to journalArticle

152 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., 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., 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., 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., 1997, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 74, 3, p. 238-246 9 p.

Research output: Contribution to journalArticle

144 Scopus citations

In situ hybridization analysis of Girk2 expression in the developing central nervous system in normal and weaver mice

Wei, J., Dlouhy, S. R., Bayer, S., Piva, R., Verina, T., Wang, Y., Feng, Y., Dupree, B., Hodes, M. E. & Ghetti, B., Jul 1997, In : Journal of Neuropathology and Experimental Neurology. 56, 7, p. 762-771 10 p.

Research output: Contribution to journalReview article

Open Access
25 Scopus citations

Introduction to genetic linkage analysis

Foroud, T., Jan 1 1997, In : Cancer Investigation. 15, 6, p. 548-552 5 p.

Research output: Contribution to journalReview article

1 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 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

Molecular dissection of Ca2+ efflux in immortalized proximal tubule cells

White, K. E., Gesek, F. A., Nesbitt, T., Drezner, M. K. & Friedman, P. A., Feb 1997, In : Journal of General Physiology. 109, 2, p. 217-228 12 p.

Research output: Contribution to journalArticle

18 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

684 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., 1997, In : Journal of Clinical Apheresis. 12, 4, p. 187-193 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Retrovirally mediated gene transfer of Arg22 and Tyr22 forms of dihydrofolate reductase into the hematopoietic cell line K562: A comparison of methotrexate resistance

Braun, S. E., Mclvor, R. S., Davidson, A. S., Hanna, M., Traycoff, C. M., Berebetsky, D. A., Gonin, R., Broxmeyer, H. E. & Cornetta, K., 1997, In : Cancer gene therapy. 4, 1, p. 26-32 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Spheroid body myopathy revisited

Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B. & Muller, J., 1997, In : Muscle and Nerve. 20, 9, p. 1127-1136 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

Tandem high dose chemotherapy with autologous bone marrow transplantation for initial relapse of testicular germ cell cancer

Broun, E. R., Nichols, C. R., Gize, G., Cornetta, K., Hromas, R. A., Schacht, B. & Einhorn, L. H., Apr 15 1997, In : Cancer. 79, 8, p. 1605-1610 6 p.

Research output: Contribution to journalArticle

86 Scopus citations
Open Access
17 Scopus citations

Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature

Wheeler, P. G., Weaver, D. D., Obeime, M. O., Vance, G. H., Bull, M. J. & Escobar, L. F., Dec 31 1997, In : American Journal of Medical Genetics. 73, 4, p. 456-462 7 p.

Research output: Contribution to journalArticle

45 Scopus citations
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

Alterations of yeast artificial chromosome transgenic sequences in stretched embryonic stem-cell chromatin visualized by fluorescence in situ hybridization

Rosenberg, C., Voltz, A. K., Lamb, B. T., Stetten, G. & Gearhart, J. D., Jan 1 1996, In : Cytogenetic and Genome Research. 75, 1, p. 67-70 4 p.

Research output: Contribution to journalArticle

5 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

64 Scopus citations

Characterization of a cDNA encoding murine coagulation factor VII

Idusogie, E., Rosen, E., Geng, J. P., Carmeliet, P., Collen, D. & Castellino, F. J., Mar 1996, In : Thrombosis and Haemostasis. 75, 3, p. 481-487 7 p.

Research output: Contribution to journalArticle

20 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