Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Eva Hlavova"'
Autor:
Viktor Stranecky, Lubica Dudakova, Olga Ulmanová, Eva Hlavova, Petra Liskova, Marie Trkova, Andrea L Vincent
Publikováno v:
Molecular Biology Reports. 44:435-440
A bilaterally blind woman, with a three generation family history of autosomal dominant congenital cataracts, variably associated with iris colobomata and microcornea, sought preconception genetic consultation. Whole-exome sequencing was performed in
Autor:
Lenka Hnykova, David Stejskal, Marie Trkova, Vera Krutilkova, Eva Hlavova, Vera Becvarova, Jana Hodacova, Jiri Horacek, Nada Jencikova, Dagmar Smetanová, Hana Hroncova
Publikováno v:
European journal of medical genetics. 58(8)
Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicate
Autor:
Lubica Dudakova, Viktor Stranecky, Olga Ulmanova, Eva Hlavova, Marie Trková, Andrea L. Vincent, Petra Liskova
Publikováno v:
Molecular Biology Reports. 44:441-441
Autor:
Marie Trkova, Eva Hlavova, Martin Hynek, Martina Sukova, Lenka Hnykova, David Čutka, Jiri Horacek, David Stejskal, Jitka Zatloukalova, Eduard Kulovany, Kristyna Markova, Gabriela Kreckova, Vera Becvarova
Publikováno v:
American journal of medical genetics. Part A. (10)
Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying