Search Results - "Zajaczek, Stanisław"

Prenatal diagnosis of rare fetal anomalies--a case report by Piotrowski, Krzysztof, Constantinou, Maria, Patalan, Jacek, Waloszczyk, Piotr, Celewicz, Zbigniew, Kałuzewski, Bogdan, Medrek, Krzysztof, Zajaczek, Stanisław

“…Hereby we present a case of a pregnancy in which careful dysmorphology of the fetus in subsequent sonographic evaluation resulted in detection of a very rare…”
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A high proportion of founder BRCA1 mutations in Polish breast cancer families by Górski, Bohdan, Jakubowska, Anna, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Grzybowska, Ewa, Mackiewicz, Andrzej, Stawicka, Malgorzata, Bębenek, Marek, Sorokin, Dagmara, Fiszer‐Maliszewska, Łucja, Haus, Olga, Janiszewska, Hanna, Niepsuj, Stanisław, Góźdź, Stanisław, Zaremba, Lech, Posmyk, Michał, Płużańska, Maria, Kilar, Ewa, Czudowska, Dorota, Waśko, Bernard, Miturski, Roman, Kowalczyk, Jerzy R., Urbański, Krzysztof, Szwiec, Marek, Koc, Jan, Dębniak, Bogusław, Rozmiarek, Andrzej, Dębniak, Tadeusz, Cybulski, Cezary, Kowalska, Elzbieta, Tołoczko‐Grabarek, Aleksandra, Zajączek, Stanisław, Menkiszak, Janusz, Mędrek, Krzysztof, Masojć, Bartłomiej, Mierzejewski, Marek, Narod, Steven Alexander, Lubiński, Jan

“…Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and…”
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Tumors of dysgenetic gonads in Swyer syndrome by Zieliñska, Dorota, Zajączek, Stanislaw, Rzepka-Górska, Izabella

“…Abstract Background/Purpose The female with Swyer syndrome requires close follow-up because of the high risk of neoplastic transformation in the dysgenetic…”
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Clinical pre- and postnatal (step-by-step) history of a boy with unbalanced translocation-t(3;15)(q26.33;q26.1) by Maria, Constantinou, Krzysztof, Piotrowski, Stanisław, Zajączek, Bogdan, Kałużewski

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Evaluation of Microfluidics-FISH method in prenatal diagnosis by Pietrzyk, Aleksandra, Ryłów, Małgorzata, Bryśkiewicz, Marta, Studniak, Ewa, Piotrowski, Krzysztof, Zajączek, Stanisław, Gronwald, Jacek

“…Classical cytogenetic analysis remains a gold standard in invasive prenatal diagnosis. Recently, Microfluidics¬-FISH, a novel method based on FISH, has been…”
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Will the new molecular karyotyping BACs-on-Beads technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports by Piotrowski, Krzysztof, Henkelman, Małgorzata, Zajaczek, Stanisław

“…Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the…”
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Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism by Edelheit, Oded, Hanukoglu, Israel, Gizewska, Maria, Kandemir, Nurgun, Tenenbaum-Rakover, Yardena, Yurdakök, Murat, Zajaczek, Stanislaw, Hanukoglu, Aaron

“…Summary Objectives Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in…”
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A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome by Sienko, Magdalena, Petriczko, Elżbieta, Zajaczek, Stanislaw, Zygmunt-Gorska, Agata, Starzyk, Jerzy, Korpysz, Alicja, Petriczko, Jan, Walczak, Alicja, Walczak, Mieczyslaw

“…Silver-Russell syndrome is heterogeneous both clinically and genetically. The best known genetic aberrations existing in this syndrome are an 11p15…”
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Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique by Piotrowski, Krzysztof, Halec, Wojciech, Wegrzynowski, Jerzy, Pietrzyk, Aleksandra, Henkelman, Małgorzata, Zajaczek, Stanisław

“…Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal…”
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Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment by Janiszewska-Olszowska, Joanna, Gawrych, Elżbieta, Dydyk, Aldona, Studniak, Ewa, Biaduń-Popławska, Anna, Zajączek, Stanisław

“…Abstract Oro-palatal dysplasia Bettex–Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected…”
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Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings by Midro, Alina T, Haus, Olga, Kobel-Buys, Krystyna, Wierzba, Jolanta, Zajączek, Stanisław

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Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15 : A Case Report by Kulik, Urszula, Petriczko, Elżbieta, Zajączek, Stanisław, Puchalska-Niedbał, Lidia

“…The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented,…”
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Allelic loss of selected tumor suppressor genes in acute lymphoblastic leukemia in children by Studniak, E, Maloney, E, Ociepa, T, Urasiński, T, Skonieczka, K, Haus, O, Poluha, A, Kowalczyk, J, Zajączek, S

“…Defect in function of tumor suppressor genes may lead to initiation/progression of leukemias. RB1, CDKN2A and TP53 gene alterations are found in acute…”
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Increased Rates of Chromosome Breakage in BRCA1 Carriers Are Normalized by Oral Selenium Supplementation by KOWALSKA, Elzbieta, NAROD, Steven A, HUZARSKI, Tomasz, ZAJACZEK, Stanislaw, HUZARSKA, Jowita, GORSKI, Bohdan, LUBINSKI, Jan

“…Women who are born with constitutional heterozygous mutations of the BRCA1 gene face greatly increased risks of breast and ovarian cancer. The product of the…”
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Congenital optic disc cyst concomitant with persistent hyaloid artery--a case report by Modrzejewska, Monika, Lachowicz, Ewelina, Tokarz-Sawińska, Ewa, Lubiński, Wojciech, Koryzma, Adam, Walecka, Anna, Urasiński, Tomasz, Zajaczek, Stanisław

“…The aim is to present a rare case of solitary malformation in the form of a congenital optic disc cyst concomitant with the persistent hyaloid artery. The…”
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The results of prenatal screening in the group of 2285 pregnant women from Western Pomeranian Region of Poland diagnosed between 2005-2006 by Piotrowski, Krzysztof, Halec, Wojciech, Medrek, Krzysztof, Wegrzynowski, Jerzy, Celewicz, Zbigniew, Zajaczek, Stanisław

“…In the following paper we have presented the results of non-invasive and invasive prenatal diagnostic tests performed on 2285 pregnant women from the…”
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A Lowering of Breast and Ovarian Cancer Risk in Women with a BRCA1 Mutation by Selenium Supplementation of Diet by Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Kowalska, Elzbieta, Zajaczek, Stanisław, Górski, Bohdan, Huzarska, Jowita, Cybulski, Cezary, Narod, Steven A, Lubiński, Jan

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The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome by Sienko, Magdalena, Petriczko, Elżbieta, Zajaczek, Stanislaw, Zygmunt-Gorska, Agata, Starzyk, Jerzy, Korpysz, Alicja, Petriczko, Jan, Walczak, Alicja, Walczak, Mieczysław

“…Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a…”
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Breast Cancers with Ocular Metastases are Early Onset, Non-Familial and Non-BRCA1/BRCA2 Tumours by Królewska, Katarzyna, Jakubowska, Anna, Zajaczek, Stanisław

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The "heart-hand" syndrome in a 8-year-old-boy with short stature by Petriczko, Elzibieta, Horodnicka-Józwa, Anita, Prowans, Piotr, Biczysko-Mokosa, Agnieszka, Szmit-Domagalska, Justyna, Dawid, Grazyna, Walczak, Mieczysław, Zajaczek, Stanisław

“…"Heart-hand" syndrome is a broad category of diseases. The most common form is Holt-Oram syndrome (HOS) that occurs in approximately 1:100 000 live births. It…”
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