Medical & Molecular Genetics

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1998

Replicating genetic linkage in the collaborative study on the genetics of alcoholism (COGA)

Reich, T., Goate, A., Edenberg, H., Rice, J., Foroud, T., Hesselbrock, V., Schuckit, M., Porjesz, B., Nurnberger, J., Crowe, R. & Begleiter, H., Nov 6 1998, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 81, 6, p. 478-479 2 p.

Research output: Contribution to journalArticle

3 Scopus citations

Semiquantitative Epstein-Barr virus (EBV) polymerase chain reaction for the determination of patients at risk for EBV-induced lymphoproliferative disease after stem cell transplantation

Lucas, K. G., Burton, R. L., Zimmerman, S. E., Wang, J., Cornetta, K. G., Robertson, K. A., Lee, C. H. & Emanuel, D. J., May 15 1998, In : Blood. 91, 10, p. 3654-3661 8 p.

Research output: Contribution to journalArticle

Open Access
195 Scopus citations

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

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

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., Jan 1 1998, In : Gut. 43, 4, p. 548-552 5 p.

Research output: Contribution to journalArticle

Open Access
97 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
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

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

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

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

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

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. & Habib, N. A., Dec 10 1999, In : Human gene therapy. 10, 18, p. 3067-3123 57 p.

Research output: Contribution to journalArticle

31 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., Jan 1 1999, In : Genetics in Medicine. 1, 5, p. 233-234 2 p.

Research output: Contribution to journalArticle

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., Jan 1 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 1 1999, In : Archives of Neurology. 56, 5, p. 563-568 6 p.

Research output: Contribution to journalArticle

90 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., Dec 10 1999, In : Genetic epidemiology. 17, SUPPL. 1, p. S627-S632

Research output: Contribution to journalArticle

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

Liang, Z., Rosen, E. D. & Castellino, F. J., Jan 1 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., Jan 1 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

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., Jan 1 1999, In : Clinical Genetics. 55, 5, p. 346-352 7 p.

Research output: Contribution to journalArticle

16 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
2000

Additional copies of the proteolipid protein gene causing Pelizaeus- Merzbacher disease arise by separate integration in to the X chromosome

Hodes, M. E., Woodward, K., Spinner, N. B., Emanuel, B. S., Enrico-Simon, A., Kamholz, J., Stambolian, D., Zackai, E. H., Pratt, V. M., Thomas, I. T., Crandall, K., Dlouhy, S. R. & Malcolm, S., Jan 1 2000, In : American Journal of Human Genetics. 67, 1, p. 14-22 9 p.

Research output: Contribution to journalArticle

38 Scopus citations

A genome screen of maximum number of drinks as an alcoholism phenotype

Saccone, N. L., Kwon, J. M., Corbett, J., Goate, A., Rochberg, N., Edenberg, H. J., Foroud, T., Li, T. K., Begleiter, H., Reich, T. & Rice, J. P., Oct 9 2000, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 96, 5, p. 632-637 6 p.

Research output: Contribution to journalArticle

177 Scopus citations

Alcoholism susceptibility loci: Confirmation studies in a replicate sample and further mapping

Foroud, T., Edenberg, H. J., Goate, A., Rice, J., Flury, L., Koller, D. L., Bierut, L. J., Conneally, P. M., Nurnberger, J. I., Bucholz, K. K., Li, T. K., Hesselbrock, V., Crowe, R., Schuckit, M., Porjesz, B., Begleiter, H. & Reich, T., Jul 2000, In : Alcoholism: Clinical and Experimental Research. 24, 7, p. 933-945 13 p.

Research output: Contribution to journalArticle

209 Scopus citations

Antileukemic activity of Flt3 ligand in murine leukemia

Wang, A., Braun, S. E., Sonpavde, G. & Cornetta, K., Apr 1 2000, In : Cancer Research. 60, 7, p. 1895-1900 6 p.

Research output: Contribution to journalArticle

26 Scopus citations

Application of FLUPD-DD-PCR to the study of mRNA expression of glioma cells cultured under the condition of serum starvation

Bai, S., Liu, W., Shi, X. & He, L., Jan 1 2000, In : Chinese Science Bulletin. 45, 4, p. 369-372 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

White, K. E., Evans, W. E., O'Riordan, J. L. H., Speer, M. C., Econs, M. J., Lorenz-Depiereux, B., Grabowski, M., Meitinger, T. & Strom, T. M., Nov 20 2000, In : Nature genetics. 26, 3, p. 345-348 4 p.

Research output: Contribution to journalArticle

1087 Scopus citations

Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice

Dewerchin, M., Liang, Z., Moons, L., Carmeliet, P., Castellino, F. J., Collen, D. & Rosen, E. D., 2000, In : Thrombosis and Haemostasis. 83, 2, p. 185-190 6 p.

Research output: Contribution to journalArticle

123 Scopus citations

Clinical retroviral vector production: Step filtration using clinically approved filters improves titers

Reeves, L. & Cornetta, K., Dec 1 2000, In : Gene Therapy. 7, 23, p. 1993-1998 6 p.

Research output: Contribution to journalArticle

32 Scopus citations

Confirmation of subtle motor changes among presymptomatic carriers of the huntington disease gene

Kirhwood, S. C., Siemers, E., Bond, C., Comically, P. M., Christian, J. C. & Foroud, T., Jul 2000, In : Archives of Neurology. 57, 7, p. 1040-1044 5 p.

Research output: Contribution to journalArticle

Open Access
64 Scopus citations

Disorders of phosphate metabolism

DiMeglio, L. A., White, K. E. & Econs, M. J., Jan 1 2000, In : Endocrinology and Metabolism Clinics of North America. 29, 3, p. 591-609 19 p.

Research output: Contribution to journalArticle

41 Scopus citations

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene

Murrell, J. R., Hake, A. M., Quaid, K. A., Farlow, M. R. & Ghetti, B., Jun 2000, In : Archives of Neurology. 57, 6, p. 885-887 3 p.

Research output: Contribution to journalArticle

Open Access
69 Scopus citations

Efficient retrovirus-mediated transfer of the multidrug resistance 1 gene into autologous human long-term repopulating hematopoietic stem cells

Abonour, R., Williams, D. A., Einhorn, L., Hall, K. M., Chen, J., Coffman, J., Traycoff, C. M., Bank, A., Kato, I., Ward, M., Williams, S. D., Hromas, R., Robertson, M. J., Smith, F. O., Woo, D., Mills, B., Srour, E. F. & Cornetta, K., Jun 1 2000, In : Nature Medicine. 6, 6, p. 652-658 7 p.

Research output: Contribution to journalArticle

239 Scopus citations

Evidence of elevated intracellular calcium levels in weaver homozygote mice

Harkins, A. B., Dlouhy, S., Ghetti, B., Cahill, A. L., Won, L., Heller, B., Heller, A. & Fox, A. P., Apr 15 2000, In : Journal of Physiology. 524, 2, p. 447-455 9 p.

Research output: Contribution to journalArticle

9 Scopus citations

Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome

Lin, A. E., Semina, E. V., Daack-Hirsch, S., Roeder, E. R., Curry, C. J. R., Rosenbaum, K., Weaver, D. D. & Murray, J. C., Apr 24 2000, In : American journal of medical genetics. 91, 5, p. 387-390 4 p.

Research output: Contribution to journalArticle

18 Scopus citations