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Kathleen Harrison - One of the best experts on this subject based on the ideXlab platform.
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maternal uniparental disomy of Chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
American Journal of Medical Genetics, 1995Co-Authors: Kathleen Harrison, Katerina Eisenger, Kwame Anyaneyeboa, Stephen BrownAbstract:We describe the first case of a baby with maternal uniparental disomy of Chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual development were normal, but growth remained below the 10th centile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid Chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered.
Adrien Cosson - One of the best experts on this subject based on the ideXlab platform.
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gain in the short arm of Chromosome 2 2p induces gene overexpression and drug resistance in chronic lymphocytic leukemia analysis of the central role of xpo1
Leukemia, 2017Co-Authors: Adrien Cosson, Elise Chapiro, Jerome Lambert, N Bougacha, L HerbiAbstract:Gain in the short arm of Chromosome 2 (2p+) induces gene overexpression and drug resistance in chronic lymphocytic leukemia: analysis of the central role of XPO1
Ondřej Seda - One of the best experts on this subject based on the ideXlab platform.
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novel double congenic strain reveals effects of spontaneously hypertensive rat Chromosome 2 on specific lipoprotein subfractions and adiposity
Physiological Genomics, 2006Co-Authors: Lucie Sedova, Drahomira Křenova, Ondřej Seda, Vratislav Prejzek, Johanne Tremblay, František Liška, Ludmila Kazdova, Pavel HametAbstract:We have developed a new, double-congenic rat strain BN-Lx.SHR2, which carries two distinct segments of Chromosome 2 introgressed from the spontaneously hypertensive rat strain (SHR) into the geneti...
Stephen Brown - One of the best experts on this subject based on the ideXlab platform.
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maternal uniparental disomy of Chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
American Journal of Medical Genetics, 1995Co-Authors: Kathleen Harrison, Katerina Eisenger, Kwame Anyaneyeboa, Stephen BrownAbstract:We describe the first case of a baby with maternal uniparental disomy of Chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual development were normal, but growth remained below the 10th centile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid Chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered.
Dagmar K Kalousek - One of the best experts on this subject based on the ideXlab platform.
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maternal uniparental disomy of Chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction hypospadias and oligohydramnios
Prenatal Diagnosis, 1997Co-Authors: Wendy F Hansen, L Bernard, Sylvie Langlois, Kathleen W Rao, Nancy C Chescheir, Arthur S Aylsworth, Ian D Smith, Wendy P Robinson, I J Barrett, Dagmar K KalousekAbstract:We present a case of maternal uniparental heterodisomy for Chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features consistent with oligohydramnios sequence. He died shortly after birth of severe pulmonary hypoplasia. The term placenta had high levels of trisomy 2 in both the trophoblast and the stroma. A comparison of this case with others reported in the literature suggests that the IUGR and oligohydramnios are likely related to placental insufficiency due to the high levels of trisomy 2 present in the trophoblast of the term placenta and the presence of UPD 2 in the diploid placental line. © 1997 John Wiley & Sons, Ltd.