Search Results - "LUNDSTEEN, C"

High resolution comparative genomic hybridisation in clinical cytogenetics by Kirchhoff, Maria, Rose, Hanne, Lundsteen, Claes

“…High resolution comparative genomic hybridisation (HR-CGH) is a diagnostic tool in our clinical cytogenetics laboratory. The present survey reports the results…”
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Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling by Sundberg, K, Bang, J, Smidt-Jensen, S, Brocks, V, Lundsteen, C, Parner, J, Keiding, N, Philip, J

“…Several cohort studies have shown the feasibility of early amniocentesis (between 11 and 13 weeks of gestation) as an alternative to chorionic villus sampling…”
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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man by Bugge, Merete, Bruun-Petersen, Gert, Brøndum-Nielsen, Karen, Friedrich, Ursula, Hansen, Jan, Jensen, Grethe, Jensen, Peter K A, Kristoffersson, Ulf, Lundsteen, Claes, Niebuhr, Erik, Rasmussen, Kim R, Rasmussen, Kirsten, Tommerup, Niels

“…Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for…”
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Further delineation of the 22q13 deletion syndrome by Lindquist, S.G., Kirchhoff, M., Lundsteen, C., Pedersen, W., Erichsen, G., Kristensen, K., Lillquist, K., Smedegaard, H.H., Skov, L., Tommerup, N., Brøndum-Nielsen, K.

“…A chromosomal deletion syndrome associated with a 22q13 microdeletion has previously been reported in approximately 75 children. We report six cases from…”
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Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling by Smidt-Jensen, S, Permin, M, Philip, J, Lundsteen, C, Zachary, J M, Fowler, S E, Grüning, K

“…We have compared three methods of prenatal diagnosis in two large obstetric centres in Denmark. Women were randomly assigned transabdominal (TA) chorionic…”
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The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma by Bryndorf, T, Kirchhoff, M, Larsen, J, Andreasson, B, Bjerregaard, B, Westh, H, Rose, H, Lundsteen, C

“…We analyzed genetic changes in condylomas (four cases), vulvar intraepithelial neoplasia I-III (VIN I-III, eleven cases), and primary vulvar squamous cell…”
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De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder by Lespinasse, James, Bugge, M., Réthoré, M.O., North, M.O., Lundsteen, C., Kirchhoff, M.

“…A 23‐year‐old obese woman with a psychotic disorder was found to have a de novo apparently balanced complex chromosomal rearrangement involving chromosomes 1,…”
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Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report by Johannsen, T H, Lundsteen, C, Visfeldt, J, Schwartz, M, Petersen, B L, Byskov, A G, Müller, J

“…We present a case of erroneous sex determination in a newborn twin girl (twin A) due to chimerism. Amniocentesis and ultrasound examination had pointed towards…”
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Comparison of cell cultures, chromosome quality and karyotypes obtained after chorionic villus sampling and early amniocentesis with filter technique by Sundberg, K., Lundsteen, C., Philip, J.

“…548 cell cultures and karyotypes obtained by early amniocentesis with filtration technique (EAF) at a mean gestational age of 12½ weeks were compared with 555…”
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Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH by Schultz, Ln, Schmidt, P, Tabor, A, Bryndorf, T, Christensen, B, Lundsteen, C

“…During a prospective prenatal study of numerical abnormalities of chromosomes 13, 18, 21, X and Y using locus‐specific probes, we incidentally found a case…”
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Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer by Ottesen, AM, Rajpert-De Meyts, E, Holm, M, Andersen, I-LF, Vogt, PH, Lundsteen, C, Skakkebæk, NE

“…A thorough cytogenetic investigation and an analysis of detailed questionnaires were performed in a family with three brothers afflicted with germ‐cell tumors…”
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Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older by Macintosh, M C, Wald, N J, Chard, T, Hansen, J, Mikkelsen, M, Therkelsen, A J, Petersen, G B, Lundsteen, C

“…To estimate the fetal loss of Down's syndrome fetuses between the time of chorionic villus sampling (10 weeks gestation) and the time of amniocentesis (16…”
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EARLY FILTRATION AMNIOCENTESIS FOR FURTHER INVESTIGATION OF MOSAICISM DIAGNOSED BY CHORIONIC VILLUS SAMPLING by SUNDBERG, K., LUNDSTEEN, C., PHILIP, J.

“…In 44 pregnancies where chorionic villus sampling (CVS) had shown mosaicism, early amniocentesis using a filter technique was carried out with the purpose of…”
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The selective miscarriage of Down's syndrome from 10 weeks of pregnancy by Macintosh, M C, Wald, N J, Chard, T, Hansen, J, Mikkelsen, M, Therkelsen, A J, Petersen, G B, Lundsteen, C

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Metaphase quality can be monitored by automatic counting of bands by Lundsteen, C, Maahr, J, Gerdes, T

“…A high quality of cytogenetic preparations is important for maintaining a high standard in the cytogenetic laboratory. In the past, quality has been assessed…”
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Clinical performance of a system for semiautomated chromosome analysis by LUNDSTEEN, C, GERDES, T, MAAHR, J, PHILIP, J

“…Until recently equipment for automated chromosome analysis has not been used for routine purposes in clinical cytogenetic laboratories. During a 3 1/2-year…”
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Letter: Inherited t2q-/15q+ translocation and Down's syndrome by Lundsteen, C

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Semiautomated chromosome analysis. A clinical test by Philip, J, Lundsteen, C

“…An interactive system for semiautomated chromosome analysis, consisting of a high-speed image processor with light-pen, TV monitor and key-board interfaced to…”
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Interstitial deletion in the critical region of the long arm of the X chromosome in a mentally retarded boy and his normal mother by TABOR, A, ANDERSEN, O, LUNDSTEEN, C, NIEBUHR, E, SARDEMANN, H

“…A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with cleft lip and palate,…”
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High-resolution comparative genomic hybridization detects extra chromosome arm 12p material in most cases of carcinoma in situ adjacent to overt germ cell tumors, but not before the invasive tumor development by Ottesen, Anne Marie, Skakkebæk, Niels E., Lundsteen, Claes, Leffers, Henrik, Larsen, Jacob, Rajpert-De Meyts, Ewa

“…High‐resolution comparative genomic hybridization (HR‐CGH) analysis was performed on DNA purified from laser‐capture microdissected carcinoma in situ (CIS)…”
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