Search Results - "Tomkins, D J"

Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia by Chen, Ming, Tomkins, Darrell J, Auerbach, Wojtek, McKerlie, Colin, Youssoufian, Hagop, Liu, Lili, Gan, Olga, Carreau, Madeleine, Auerbach, Anna, Groves, Tim, Guidos, Cynthia J, Freedman, Melvin H, Cross, Jay, Percy, Dean H, Dick, John E, Joyner, Alexandra L, Buchwald, Manuel

“…Fanconi anaemia (FA) is an autosomal recessive disease characterized by bone marrow failure, variable congenital malformations and predisposition to…”
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Case-control study of congenital anomalies in children of cancer patients by Dodds, L, Marrett, L D, Tomkins, D J, Green, B, Sherman, G

“…OBJECTIVES--To determine whether the offspring of cancer survivors are at an increased risk of congenital anomalies and whether cancer therapy before…”
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Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency by Nowaczyk, Małgorzata Jm, Huggins, Marlene J, Tomkins, Darrell J, Rossi, Elena, Ramsay, Jennifer A, Woulfe, John, Scherer, Stephen W, Belloni, Elena

“…We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an…”
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Risk of congenital anomalies in children of parents occupationally exposed to low level ionising radiation by Green, L M, Dodds, L, Miller, A B, Tomkins, D J, Li, J, Escobar, M

“…OBJECTIVES: To evaluate the risk of having a child with a congenital anomaly in relation to occupational exposure to low level ionising radiation in the…”
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Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT) by Winsor, Elizabeth J. T., Tomkins, Darrell J., Kalousek, Dagmar, Farrell, Sandra, Wyatt, Philip, Fan, Yao-Shan, Carter, Ronald, Wang, Hungshu, Dallaire, Louis, Eydoux, Patrice, Welch, J. Philip, Dawson, Angelika, Lin, Jim C. C., Singer, Joel, Johnson, JoAnn, Wilson, R. Douglas

“…Cytogenetic results from a large multicentre randomized controlled study of 2108 amniotic fluids obtained at 11+0–12+6 weeks (EA) and 1999 fluids at 15+0–16+6…”
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Correction of the spontaneous and DEB-induced chromosomal aberrations in Fanconi anemia cells of the FA(C) complementation group by the FACC gene by Stavropoulos, D J, Sood, S, Tomkins, D J, Buchwald, M

“…Fanconi anemia (FA) cells are hypersensitive to the cytotoxic and clastogenic effects of DNA cross-linking agents. Four complementation groups have been…”
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Transformation of human cultured fibroblasts with plasmids carrying dominant selection markers and immortalizing potential by Chang, P L, Gunby, J L, Tomkins, D J, Mak, I, Rosa, N E, Mak, S

“…The disadvantages of using human cultured cells for biochemical and genetic studies are their limited lifespan in vitro and their lack of chemical selection…”
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A Study of Sister Chromatid Exchange and Somatic Cell Mutation in Hospital Workers Exposed to Ethylene Oxide by Tomkins, Darrell J., Haines, Ted, Lawrence, Murray, Rosa, Nadia

“…To investigate the risks of exposure to ethylene oxide (EO) at current permissible levels and at past higher levels, an inception cohort of sterilizer…”
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Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? by Tomkins, D J, Sisken, J E

“…Roberts-SC phocomelia syndrome (RS) is a recessively inherited developmental disorder characterized by profound pre- and postnatal growth reduction,…”
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Somatic cell hybridization of Roberts Syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes by ALLINGHAM-HAWKINS, D. J, TOMKINS, D. J

“…Roberts syndrome (RS) is a rare recessive condition of limb deformities, growth retardation, and developmental delay. Cultured cells from approximately half of…”
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Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry by Leonard, N.J., Tomkins, D.J.

“…Many types of chromosome mosaicism have been identified in cases of hypomelanosis of Ito, often in association with chromosome instability; however, there have…”
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Unstable familial translocations: A t(11;22)mat inherited as a t(11;15) by Tomkins, D J

“…Unusual inheritance of a reciprocal translocation, t(11;22)(p11;p12)mat was discovered in a family with one daughter having a different translocation,…”
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Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells by McDaniel, Lisa D., Tomkins, Darrell J., Stanbridge, Eric J., Somerville, Martin J., Friedberg, Errol C., Schultz, Roger A.

“…Roberts syndrome (RS) is a developmental disorder characterized by tetraphocomelia and a broad spectrum of additional clinical features. Most patients with RS…”
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Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers by GUNBY, J. L, TOMKINS, D. J, CHANG, P. L

“…Roberts syndrome (RS) is a rare human recessive disorder involving, in the chromosomes of some patients, a characteristic puffing or splitting apart of the…”
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False-positive and false-negative cytogenetic findings on chorionic villus sampling by Tomkins, D J, Vekemans, M J

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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism by Nowaczyk, Malgorzata J.M., Ramsay, Jennifer A., Mohide, Patrick, Tomkins, Darrell J.

“…Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal…”
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Heterogeneity in Roberts syndrome by Allingham-Hawkins, D J, Tomkins, D J

“…Roberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and limb anomalies. Some RS…”
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Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat by Leonard, Norma J., Tomkins, Darrell J., Demianczuk, Nestor

“…Alobar holoprosencephaly (HPE) was identified by ultrasonography at 18 weeks' gestation in a fetus of a 29‐year‐old G2P0A1 woman. HPE has been described in…”
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Effect of sample holding, cryopreservation, and storage on the human lymphocyte cytogenetic test by Tomkins, D J, Scheid, E E

“…In monitoring occupational populations with the human lymphocyte cytogenetic test, it is not always possible to collect and process matched samples on the same…”
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De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion by Sathya, Pushpa, Tomkins, Darrell J., Freeman, Viola, Paes, Bosco, Nowaczyk, Małgorzata J.M.

“…We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first…”
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