Search Results - "Lazarczyk, Ewelina"

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia by Repczynska, Anna, Julga, Katarzyna, Skalska-Sadowska, Jolanta, Kacprzak, Magdalena M, Bartoszewska-Kubiak, Alicja, Lazarczyk, Ewelina, Loska, Damian, Drozniewska, Malgorzata, Czerska, Kamila, Wachowiak, Jacek, Haus, Olga

“…Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal…”
Get full text

The Levels of Pregnancy-Associated Plasma Protein (PAPP-A) and Chorionic Gonadotropin (β-hCG) in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy by Pasińska, Magdalena, Balcerek, Emilia, Repczyńska, Anna, Łazarczyk, Ewelina

“…Hypothyroidism occurs in pregnant women at a rate of 0.3% to 3%. The deficiency of thyroid hormones during pregnancy can lead to an increased risk of pregnancy…”
Get full text

Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2) by Pasińska, Magdalena, Łazarczyk, Ewelina, Jułga, Katarzyna, Bartnik-Głaska, Magdalena, Nowakowska, Beata, Haus, Olga

“…Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT…”
Get full text

Prenatal identification of partial 3q duplication syndrome by Pasińska, Magdalena, Adamczak, Rafał, Repczyńska, Anna, Łazarczyk, Ewelina, Iskra, Barbara, Runge, Agata Klaudia, Haus, Olga

“…The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed…”
Get full text

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation by Pasińska, Magdalena, Łazarczyk, Ewelina, Repczyńska, Anna, Sobczyńska-Tomaszewska, Agnieszka, Zimowski, Janusz, Runge, Agata, Haus, Olga

“…The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the…”
Get full text

The Levels of Pregnancy-Associated Plasma Protein by Lazarczyk, Ewelina, Balcerek, Emilia, Pasinska, Magdalena, Repczynska, Anna

“…Introduction: Hypothyroidism occurs in pregnant women at a rate of 0.3% to 3%. The deficiency of thyroid hormones during pregnancy can lead to an increased…”
Get full text

The Levels of Pregnancy-Associated Plasma Protein in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy by Pasinska, Magdalena, Balcerek, Emilia, Repczynska, Anna, Lazarczyk, Ewelina

“…Introduction: Hypothyroidism occurs in pregnant women at a rate of 0.3% to 3%. The deficiency of thyroid hormones during pregnancy can lead to an increased…”
Get full text

Wybrane genetyczne przyczyny poronień by Łazarczyk, Ewelina, Pasińska, Magdalena, Osmańska-Załuska, Katarzyna, Haus, Olga

“…Około 15–25% ciąż kończy się poronieniem samoistnym, czyli wydaleniem z organizmu matki zarodka bądź płodu o masie poniżej 500 g lub przed 20. tygodniem…”
Get full text

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures by Lazarczyk, Ewelina, Drozniewska, Malgorzata, Pasinska, Magdalena, Stasiewicz-Jarocka, Beata, Midro, Alina T, Haus, Olga

“…Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths,…”
Get full text

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures by Lazarczyk, Ewelina, Drozniewska, Malgorzata, Pasinska, Magdalena, Stasiewicz-Jarocka, Beata, Midro, Alina T, Haus, Olga

“…BACKGROUNDBalanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions,…”
Get full text

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation by Pasińska, Magdalena, Łazarczyk, Ewelina, Repczyńska, Anna, Sobczyńska-Tomaszewska, Agnieszka, Zimowski, Janusz, Runge, Agata, Haus, Olga

“…IntroductionThe X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities…”
Get full text