Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Zofia Helszer"'
Autor:
Zofia Helszer, Bogdan Kałużewski, Jolanta Słowikowska-Hilczer, Hanna Moczulska, Edyta Borkowska, Sławomir Jędrzejczyk, Michał Pietrusiński, Anita Dmochowska
Publikováno v:
Endokrynologia Polska. 64:398-402
Wstep: Mutacje w genie receptora androgenowego (AR, Androgen Receptor) są najczestszą przyczyną zaburzen roznicowania plci (DSD, Disorders of Sex Development) powodującą zespol niewrazliwości na androgeny (AIS, Androgen Insensitivity Syndrome).
Autor:
Anita Dmochowska, Sławomir Jędrzejczyk, Jolanta Słowikowska-Hilczer, Bogdan Kałużewski, Marek Wieczorek, Janusz Szemraj, Zofia Helszer
Publikováno v:
Gene. 526(2)
SRY (sex-determining region Y) gene, MIM 480000, NM_005634) is crucial for sex differentiation which encodes the protein responsible for initiating testis differentiation. SRY mutations are associated with the presence of XY gonadal dysgenesis sympto
Autor:
Justyna Turek-Plewa, Wieslaw H. Trzeciak, Zofia Helszer, Anna Eckersdorf-Mastalerz, Bogdan Kałużewski
Publikováno v:
Fertility and sterility. 85(6)
Objective To conduct clinical, genetic, and molecular diagnostics of two sisters with typical symptoms of complete androgen insensitivity syndrome. Design Case report. Setting Research laboratory at a university of medical science. Patient(s) Two pat
Publikováno v:
Acta biochimica Polonica. 51(4)
Pre- and postnatal diagnosis of chromosomal aberrations is generally based on conventional cytogenetic analysis. In this paper, we have devised a quantitative polymerase chain reaction (Q-PCR) method to determine gene dose effects and applied it in c
Publikováno v:
Journal of applied genetics. 44(2)
DNA replication kinetics of the Prader-Willi/Angelman Critical Region (PWACR) was studied with and without synchronisation in human amniotic cell cultures obtained from 20 cases with normal karyotype and 4 cases with a marker of chromosome 15, respec
Publikováno v:
Journal of applied genetics. 44(2)
Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of
Publikováno v:
Ginekologia polska. 73(5)
With application of the quantitative PCR, Q-PCR, two cases of aneuploidy: trisomy 18 and trisomy 21 were detected in the course of routine prenatal diagnosis in amniotic cells DNA obtained from 1.5 ml of the amniotic fluid. The conventional cytogenet
Autor:
Walther Vogel, Maria Constantinou, Diana Mikiewicz-Sygula, Anna Jeziorowska, Annette Baumstark, Zofia Helszer, Lucjusz Jakubowski, Bogdan Kaulzewski
Publikováno v:
Journal of Medical Genetics. 37:28e-28
Editor—The SRY gene (sex determining region of Y) and AZF (azoospermia factor), a gene from a gene family with multiple members, are both localised on the Y chromosome and are crucial for testis determination and spermatogenesis, respectively.1-5 S
Publikováno v:
International Journal of Radiation Biology and Related Studies in Physics, Chemistry and Medicine. 44:301-305
SummaryExternal adenine compounds bring about changes in the transport of hydrophilic molecules across control and irradiated bovine erythrocyte membranes. Changes in the transport induced by incubation of erythrocytes with nucleotides depend on the
Publikováno v:
Comparative Biochemistry and Physiology Part A: Physiology. 78:367-369
1. 1. Analysis were carried out to determine Ca, Mg, K, Na and protein content, as well as pH, of the hemolymph of three species of Oniscoidea (Oniscus asellus, Porcellio scaber and Cylisticus convexus). 2. 2. Statistically significant differences we