Search Results - "Van Dyke, D. L."

Monosomal karyotype in myelodysplastic syndromes, with or without monosomy 7 or 5, is prognostically worse than an otherwise complex karyotype by Patnaik, M M, Hanson, C A, Hodnefield, J M, Knudson, R, Van Dyke, D L, Tefferi, A

“…Monosomal karyotype (MK) refers to the presence of two or more distinct autosomal monosomies or a single monosomy associated with a structural abnormality. In…”
Get full text

Longitudinal genome-wide analysis of patients with chronic lymphocytic leukemia reveals complex evolution of clonal architecture at disease progression and at the time of relapse by Braggio, E, Kay, N E, VanWier, S, Tschumper, R C, Smoley, S, Eckel-Passow, J E, Sassoon, T, Barrett, M, Van Dyke, D L, Byrd, J C, Jelinek, D F, Shanafelt, T D, Fonseca, R

Get full text

Refined cytogenetic-risk categorization for overall and leukemia-free survival in primary myelofibrosis: a single center study of 433 patients by Caramazza, D, Begna, K H, Gangat, N, Vaidya, R, Siragusa, S, Van Dyke, D L, Hanson, C, Pardanani, A, Tefferi, A

“…We have previously identified sole +9, 13q- or 20q-, as ‘favorable’ and sole +8 or complex karyotype as ‘unfavorable’ cytogenetic abnormalities in primary…”
Get full text

Leukemia risk models in primary myelofibrosis: an International Working Group study by Tefferi, A, Pardanani, A, Gangat, N, Begna, K H, Hanson, C A, Van Dyke, D L, Caramazza, D, Vannucchi, A M, Morra, E, Cazzola, M, Pereira, A, Cervantes, F, Passamonti, F

Get full text

Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study by Graf, M D, Christ, L, Mascarello, J T, Mowrey, P, Pettenati, M, Stetten, G, Storto, P, Surti, U, Van Dyke, D L, Vance, G H, Wolff, D, Schwartz, S

“…Background: A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic…”
Get full text

Molecular definition of breakpoints associated with human Xq isochromosomes : Implications for mechanisms of formation by WOLFF, D. J, MILLER, A. P, VAN DYKE, D. L, SCHWARTZ, S, WILLARD, H. F

“…To test the centromere misdivision model of isochromosome formation, we have defined the breakpoints of cytogenetically monocentric and dicentric Xq…”
Get full text

Genomic characterization of high-count MBL cases indicates that early detection of driver mutations and subclonal expansion are predictors of adverse clinical outcome by Barrio, S, Shanafelt, T D, Ojha, J, Chaffee, K G, Secreto, C, Kortüm, K M, Pathangey, S, Van-Dyke, D L, Slager, S L, Fonseca, R, Kay, N E, Braggio, E

“…High-count monoclonal B-cell lymphocytosis (MBL) is an asymptomatic expansion of clonal B cells in the peripheral blood without other manifestations of chronic…”
Get full text

Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1 by Zinn, Andrew R., Tonk, Vijay S., Chen, Zhong, Flejter, Wendy L., Gardner, H. Allen, Guerra, Rudy, Kushner, Harvey, Schwartz, Stuart, Sybert, Virginia P., Van Dyke, Daniel L., Ross, Judith L.

“…Turner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature,…”
Get full text

Deficient Transcription of XIST from Tiny Ring X Chromosomes in Females with Severe Phenotypes by Migeon, Barbara R., Luo, Shengyuan, Stasiowski, Beth A., Jani, Mihir, Axelman, Joyce, Van Dyke, Daniel L., Weiss, Lester, Jacobs, Patricia A., Yang-Feng, Teresa L., Wiley, John E.

“…The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to…”
Get full text

The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA by White, Wendy M., Willard, Huntington F., Van Dyke, Daniel L., Wolff, Daynna J.

“…X inactivation involves initiation, propagation, and maintenance of genetic inactivation. Studies of replication timing in X;autosome translocations have…”
Get full text

Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA by Depinet, Theresa W., Zackowski, Joleen L., Earnshaw, William C., Kaffe, Sara, Sekhon, Gurbax S., Stallard, Richard, Sullivan, Beth A., Vance, Gail H., Van Dyke, Daniel L., Willard, Huntington F., Zinn, Arthur B., Schwartz, Stuart

“…Recent studies have implicated α-satellite DNA as an integral part of the centromere, important for the normal segregation of human chromosomes. To explore the…”
Get full text

Nonrandom chromosome aberrations and clonal populations in head and neck cancer by Carey, T E, Van Dyke, D L, Worsham, M J

“…Losses of 3p13-p24, 5q12-q23, 8p22-p23, 9p21-p24, 10p13-pter, 18q22-q23, and 21q11.2-q21 (40-60% of tumors); loss of the inactive X and loss (or rearrangement)…”
Get more information

Duplication 6q21q23 in two unrelated patients by Pratt, V.M., Roberson, J.R., Weiss, L., Van Dyke, D.L.

“…We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is…”
Get full text

Chromosomal aberrations identified in culture of squamous carcinomas are confirmed by fluorescence in situ hybridisation by Worsham, M J, Wolman, S R, Carey, T E, Zarbo, R J, Benninger, M S, Van Dyke, D L

“…AIMS: Chromosomal aberrations in tumour cells are often not discernable by direct analysis. Although cell culture allows qualitative analysis of the karyotype,…”
Get full text

Molecular characterization of de novo secondary trisomy 13 by Shaffer, L G, McCaskill, C, Han, J Y, Choo, K H, Cutillo, D M, Donnenfeld, A E, Weiss, L, Van Dyke, D L

“…Unbalanced Robertsonian translocations are a significant cause of mental retardation and fetal wastage. The majority of homologous rearrangements of chromosome…”
Get full text

Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy by Bodrug, S E, Roberson, J R, Weiss, L, Ray, P N, Worton, R G, Van Dyke, D L

“…There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band…”
Get full text

Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p by Satinover, D L, Vance, G H, Van Dyke, D L, Schwartz, S

“…Over 40 cases of neocentric marker chromosomes, without detectable alpha-satellite DNA, have been reported. Although these have originated from many different…”
Get full text

A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres by WORSHAM, M. J, MILLER, D. A, DEVRIES, J. M, MITCHELL, A. R, RAMESH BABU, V, SURLI, V, WEISS, L, VAN DYKE, D. L

“…A 4-year-old girl with multiple malformations and severe developmental delay has been shown to have a karyotype of 46,XX-9,+rec(9),dup p,inv(9)…”
Get full text

The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history by NOWINSKI, G. P, VAN DYKE, D. L, TILLEY, B. C, JACOBSEN, G, RAMESH BABU, V, WORSHAM, M. J, WILSON, G. N, WEISS, L

“…The clinical significance of low numbers of aneuploid cells in routine cytogenetic studies of cultured lymphocytes is not always clear. We compared the…”
Get full text

Chromosome 20 Deletion in Human Multiple Endocrine Neoplasia Types 2A and 2B: A Double-Blind Study by Babu, V. R., Van Dyke, Daniel L., Jackson, Charles E.

“…Multiple endocrine neoplasia type 2A and 2B (MEN-2A and MEN-2B) are autosomal dominantly inherited syndromes in which medullary thyroid cancers are associated…”
Get full text