Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Dagmar Raskova"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 57, Iss 5, Pp 726-729 (2018)
Objective: To highlight importance of detailed ultrasound examination in fetuses with known normal karyotype (and micro-array result) from CVS. In case of markedly abnormal ultrasound result repeated karyotyping by amniocentesis should be considered.
Externí odkaz:
https://doaj.org/article/282fe484f1bb482f94beccf433f9a0b1
Autor:
Dagmar Raskova, Martin Hynek, Lubica Dudakova, Martin Hlozanek, Andrea L Vincent, Vera Becvarova, Petra Liskova, Marie Trkova
Publikováno v:
American Journal of Medical Genetics Part A. 170:1843-1848
We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in wee
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 57, Iss 5, Pp 726-729 (2018)
Objective: To highlight importance of detailed ultrasound examination in fetuses with known normal karyotype (and micro-array result) from CVS. In case of markedly abnormal ultrasound result repeated karyotyping by amniocentesis should be considered.
Autor:
Michelle M. Le Beau, Jill Dixon, Katherine Kinger, Michael J. Dixon, Gregory M. Landes, Robert Williamson, Dagmar Raskova
Publikováno v:
Human Molecular Genetics. 1:249-253
Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the locus for which has been chromosomally localized to 5q31-34. We have isolated four hypervariable microsatellite markers (heterozygosity values range