Search Results - "Ilnicka, Alicja"

In-house genetic counseling increases the detection of abnormal karyotypes—a 26-year experience in prenatal diagnosis in a single tertiary referral hospital in Poland by Bijok, Julia, Kucińska–Chahwan, Anna, Massalska, Diana, Ilnicka, Alicja, Panek, Grzegorz, Roszkowski, Tomasz

“…Purpose To evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital. Methods A retrospective analysis of invasive prenatal…”
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Triploidy – variability of sonographic phenotypes by Massalska, Diana, Bijok, Julia, Ilnicka, Alicja, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Objectives To analyze sonographic abnormalities in triploid pregnancies and assess the usefulness of the classification proposed by McFadden and Kalousek for…”
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Triploidy - variability of sonographic phenotypes: Ultrasonographic phenotypes of fetal triploidy by Massalska, Diana, Bijok, Julia, Ilnicka, Alicja, Jakiel, Grzegorz, Roszkowski, Tomasz

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Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review by Dąbkowska, Sylwia, Kucińska‐Chahwan, Anna, Beneturska, Anna, Ilnicka, Alicja, Nowakowska, Beata, Panek, Grzegorz, Roszkowski, Tomasz, Bijok, Julia

“…Objectives To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed…”
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Complex malformations involving the fetal body wall – definition and classification issues by Bijok, Julia, Massalska, Diana, Kucińska‐Chahwan, Anna, Posiewka, Anna, Ilnicka, Alicja, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Objective The objective of the study is to analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the…”
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Targeted prenatal diagnosis of Pallister–Killian syndrome by Kucińska‐Chahwan, Anna, Bijok, Julia, Dąbkowska, Sylwia, Jóźwiak, Anna, Ilnicka, Alicja, Nowakowska, Beata, Jakiel, Grzegorz, Roszkowski, Tomasz

“…Objective To present five new cases of prenatally diagnosed Pallister–Killian syndrome (PKS) and to propose an approach for a targeted diagnosis. Method We…”
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Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum--preliminary results by Bijok, Julia, Gorzelnik, Katarzyna, Massalska, Diana, Ilnicka, Alicja, Pawłowska, Barbara, Zimowski, Janusz G, Kucińska-Chahwan, Anna, Jakiel, Grzegorz, Roszkowski, Tomasz

“…The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free…”
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Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies by Jóźwiak, Anna, Bijok, Julia, Massalska, Diana, Pawłowska, Barbara, Ilnicka, Alicja, Bogdanowicz, Joanna, Masternak-Wasiuk, Katarzyna, Jakiel, Grzegorz, Roszkowski, Tomasz

“…To assess the effectiveness of the MLPA method (multiplex ligation dependent probe amplification) in prenatal diagnosis of common aneuploidies and compare its…”
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Increased nuchal translucency in chromosomally normal fetuses and pregnancy outcomes--a retrospective study by Bijok, Julia, Ziora-Jakutowicz, Karolina, Ilnicka, Alicja, Pawłowska, Barbara, Jóźwiak, Anna, Dangel, Joanna, Jakiel, Grzegorz, Roszkowski, Tomasz

“…The objective was to study the outcomes of fetuses with increased nuchal translucency > or = 3.5 mm and normal karyotype. We performed a retrospective study on…”
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Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies by Jóźwiak, Anna, Pawłowska, Barbara, Ilnicka, Alicja, Bogdanowicz, Joanna, Masternak-Wasiuk, Katarzyna, Bijok, Julia, Massalska, Diana, Jakiel, Grzegorz, Roszkowski, Tomasz

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A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease by Pawłowska, Barbara, Tomankiewicz-Zawadzka, Anna, Ilnicka, Alicja, Bogdanowicz, Joanna, Wciórka, Jacek, Szafrański, Tomasz, Woźniak, Piotr, Meder, Joanna, Szaniawska-Bartnicka, Agnieszka, Zdzienicka, Elzbieta, Szirkowiec, Walentyna, Zaremba, Jacek

“…The aim of the study was an estimation of the rate of deletion 22q11.2 among psychiatric patients and an attempt at the assessment of the degree in which this…”
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Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities by Borg, Katarzyna, Bocian, Ewa, Stankiewicz, Pawel, Obersztyn, Ewa, Kruczek, Anna, Nowakowska, Beata, Ilnicka, Alicja, Mazurczak, Tadeusz

“…In about 6% of individuals with intellectual disability, dysmorphic features and congenital anomalies, an abnormal, apparently balanced karyotype is found…”
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An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy by Fidzianska, A, Morrone, A, Pegoraro, E, Ryniewicz, B, Ilnicka, A, Zammarchi, E, Hoffman, E P

“…We report a 5-year-old girl with clinical symptoms of typical Duchenne muscular dystrophy in males. The girl showed dramatic elevations of serum creatine…”
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