Zobrazeno 1 - 10
of 138
pro vyhledávání: '"R. Plaetke"'
Autor:
C.T. Gay, L.J. Hardies, R.A. Rauch, J.L. Lancaster, R. Plaetke, B.R. DuPont, J.D. Cody, John E. Cornell, R.C. Herndon, P.D. Ghidoni, J.M. Schiff, C.I. Kaye, R.J. Leach, P.T. Fox
Publikováno v:
American Journal of Medical Genetics. 74:422-431
Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed brain myelination in 18q- syndrome, a disorder characterized by mental retardation, dysmorphic features, and growth failure. T1-weighted and dual spin-echo T2-wei
Autor:
M. Budgett, L. Hernandez, Eli Ipp, Carol Fondran, A. Pickens, B. S. Kasinath, Michael F. Seldin, V. Turner, R. Juan, H. Abboud, J. Schelling, Philip G Zager, C. Brown, B. Kessing, C. Winkler, Y. D I Chen, S. J. O'Brien, D. W. Bowden, Gyungah Jun, L. Jones, J. Gonzalez, E. Zaletel, Katrina A.B. Goddard, M. W. Smith, Amanda Horvath, L. Getz-Fradley, X. Guo, T. Whitehead, H. Li, L. M. Phillips, Jane M. Olson, J. Chester, Robert L. Hanson, T. Abboud, Michael J. Klag, Marina Scavini, K. Ngo, K. Taylor, L. Mead, O. Kohn, R. Lovelace, Paul L. Kimmel, William C. Knowler, R. Spielman, B. Waseta, C. Muro, L. Humbert, Mohammed F. Saad, R. Young, Vallabh O. Shah, I. Sili, C. Garcia, Madeleine V. Pahl, C. Jefferson, Sharon G. Adler, Robert C. Elston, Rulan S. Parekh, Sudha K. Iyengar, J. R. Sedor, Jerome I. Rotter, Denyse Thornley-Brown, Janine La Page, M. Thompson, J. Wolford, Josephine P. Briggs, L. Ingram-Drake, J. Sewemaenewa, D. Leehey, A. Bobelu, R. Chakraborty, C. Goyes, N. Arar, H. E. Collins-Schramm, R. G. Nelson, C. Pagliasotti, S. C. Satko, S. Viverette, R. L. Hanson, F. Hariri, S. Warren, S. Nicholas, J. Loebel, M. Slaughter, R. Plaetke, G. Brooks, G. Barone, Sarah Ialacci, M. Spainhour, G. M. Dunston, V. Sartorio, M. Stern, S. Edwards-Quade, David G. Warnock, W. H. Linda Kao, Kristopher Kramp, S. S. Rich, B. I. Freedman, B. Walker, C. Jenkinson, Lucy A. Meoni, R. Duggirala, C. Luethe, Rebekah S. Rasooly
Publikováno v:
Clinical journal of the American Society of Nephrology : CJASN. 2(6)
Background and objectives: This study investigated the effect of long-term storage at 70°C on urinary albumin, protein, and creatinine measurements in the Family Investigation of Nephropathy and Diabetes, a multicenter study designed to identify gen
Publikováno v:
American journal of medical genetics. 69(3)
Individuals with the 18q- syndrome have variable deletions from the long arm of chromosome 18. They also exhibit a highly variable phenotype. To correlate genotype with phenotype accurately, extensive molecular and phenotypic analyses are needed on e
Publikováno v:
Cytogenetics and cell genetics. 72(2-3)
The collagenase type IV B gene (CLG4B) was previously mapped to human chromosome 16 by hybridization of a cDNA probe to DNAs from a somatic cell hybrid panel. We have relocalized CLG4B to chromosome 20 based on three different lines of evidence: scre
Autor:
R, Plaetke, G A, Schachtel
Publikováno v:
American journal of human genetics. 56(2)
Meiotic breakpoint analysis (BPA), a statistical method for ordering genetic markers, is increasing in importance as a method for building genetic maps of human chromosomes. Although BPA does not provide estimates of genetic distances between markers
Autor:
H, Coon, S, Jensen, M, Hoff, J, Holik, R, Plaetke, F, Reimherr, P, Wender, M, Leppert, W, Byerley
Publikováno v:
American journal of human genetics. 52(6)
Manic-depressive illness (MDI), also known as "bipolar affective disorder," is a common and devastating neuropsychiatric illness. Although pivotal biochemical alterations underlying the disease are unknown, results of family, twin, and adoption studi
Autor:
B. Otterud, M. Leppert, Luciana Caenazzo, Margret R. Hoehe, Hannelore Ehrenreich, R. Plaetke, H. Zander
Publikováno v:
Cytogenetics and cell genetics. 62(2-3)
We determined the precise genetic location of the human endothelin-1 gene (EDN1), which encodes a peptide with extremely potent vasoactive properties and is apparently involved in a spectrum of diseases ranging from hypertension to asthma. Analyzing
Publikováno v:
Genetic epidemiology. 8(6)
Publikováno v:
Disease markers. 8(3)
Thirty members of a Tunisian family with hereditary chondrocalcinosis were typed for HLA-A, B, and DR antigens: 7 affected and 23 unaffected subjects in three consecutive generations. The haplotype A1 B12 DR3 was found in all affected subjects and in
Publikováno v:
Genetic epidemiology. 7(1)
We determined pairwise linkage disequilibria between 12 restriction fragment length polymorphism (RFLP) markers at or near the low-density lipoprotein receptor (LDLR) locus on chromosome 19p13.2-13.1 in 92 unrelated individuals. Of these 12 RFLPs, tw