Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Stanislaw, Zajaczek"'
Autor:
Magdalena, Sienko, Elżbieta, Petriczko, Stanislaw, Zajaczek, Agata, Zygmunt-Gorska, Jerzy, Starzyk, Alicja, Korpysz, Jan, Petriczko, Alicja, Walczak, Mieczysław, Walczak
Publikováno v:
Neuro endocrinology letters. 38(6)
Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c673ecd288029a48a8fff74426a8e787
https://pubmed.ncbi.nlm.nih.gov/29298282
https://pubmed.ncbi.nlm.nih.gov/29298282
Autor:
Mieczysław Walczak, Joanna Bogdanowicz, Andrzej Kędzia, Anita Horodnicka-Józwa, Grazyna Dawid, Agnieszka Biczysko-Mokosa, Elzbieta Zdziennicka, Maria Constantinou, Anna Sulek-Piatkowska, Karolina Pesz, Stanislaw Zajaczek, Sylwia Gawlik-Zawislak, Elżbieta Petriczko, Ewa Barg
Publikováno v:
American Journal of Medical Genetics Part A. :1442-1446
We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested simila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd0bb10b404e3a67169463cc4e0b98e0
https://doi.org/10.1002/ajmg.a.35345
https://doi.org/10.1002/ajmg.a.35345
Autor:
Jowita Huzarska, Jan Lubinski, Bohdan Górski, Tomasz Huzarski, Stanislaw Zajaczek, Steven A. Narod, Elzbieta Kowalska
Publikováno v:
Cancer Epidemiology, Biomarkers & Prevention. 14:1302-1306
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 BRCA1 gene is involved in the repair of double-stranded DNA breaks and it is believed that i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b30f1d0ee70393561d6542d4a707ae1d
https://doi.org/10.1158/1055-9965.epi-03-0448
https://doi.org/10.1158/1055-9965.epi-03-0448
Autor:
Oded Edelheit, Maria Gizewska, Israel Hanukoglu, Stanislaw Zajaczek, Yardena Tenenbaum-Rakover, Nurgun Kandemir, Aaron Hanukoglu, Murat Yurdakök
Publikováno v:
Clinical Endocrinology. 62:547-553
Summary Objectives Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits α , β and γ . In this stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fb9d9277abaf42ac4a0180b140f729c
https://doi.org/10.1111/j.1365-2265.2005.02255.x
https://doi.org/10.1111/j.1365-2265.2005.02255.x
Autor:
Stanislaw Zajaczek, Jan Lubinski, Zbigniew Sych, Krzysztof Penkala, Wojciech Lubiński, Palacz O
Publikováno v:
Documenta Ophthalmologica. 103:91-103
Purpose: The electro-oculogram (EOG) is a powerful test to evaluate the functional status of the retinal pigment epithelium (RPE). Clinically detectable changes of the RPE desribed in neurofibromatosis type 1 (NF-1) patients include combined hamartom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f86b99585af107bab5326a3fd65486d
https://doi.org/10.1023/a:1012271206258
https://doi.org/10.1023/a:1012271206258
Autor:
Jan Lubinski, Bogusław Nedoszytko, Stanislaw Zajaczek, Izabela Brozek, Janusz Limon, Andrzej Hellmann, Krzysztof Mrózek
Publikováno v:
Cancer Genetics and Cytogenetics. 83:75-81
Cytogenetic studies of five patients with Sezary syndrome (SS) revealed clonal chromosome aberrations in all cases. In one patient, a del(8)(p21) was the sole abnormality, whereas the remaining cases had karyotypes with multiple chromosome changes. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9722218fb76b691c7459c0bd1fc6d91
https://doi.org/10.1016/0165-4608(94)00292-4
https://doi.org/10.1016/0165-4608(94)00292-4
Publikováno v:
Journal of pediatric surgery. 42(10)
Background/Purpose The female with Swyer syndrome requires close follow-up because of the high risk of neoplastic transformation in the dysgenetic gonads. The aim of this work was to present our experience with tumors in patients with Swyer syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f34e361ca9699fe8258be0cdc09345
https://pubmed.ncbi.nlm.nih.gov/17923202
https://pubmed.ncbi.nlm.nih.gov/17923202
Autor:
Dorota Nowakowska, Wojciech Juzwa, Michał Drews, Andrzej Pławski, Stanislaw Zajaczek, Tomasz Banasiewicz, Ryszard Słomski, Jakub Lubiński, Izabela Brozek, Daniel Lipiński, Diana Hodorowicz-Zaniewska, Jacek Paszkowski, Grzegorz Kurzawski, Piotr Krokowicz, E Czkwaniec, Tomasz Byrski, Joanna Zeyland, A Strembalska, Tomasz Gach
Publikováno v:
Scopus-Elsevier
Familial adenomatous polyposis (FAP) is a genetically determined disorder that is inherited in an autosomal dominant manner. The occurrence of FAP is associated with mutations in the APC gene, which were described in 1991.1 De novo mutations of the A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95af00dd477450453a9091e2477a4136
https://pubmed.ncbi.nlm.nih.gov/14729851
https://pubmed.ncbi.nlm.nih.gov/14729851
Autor:
Krzysztof Penkala, Stanislaw Zajaczek, Zbigniew Sych, Wojciech Lubiński, Palacz O, Jan Lubinski
Publikováno v:
Ophthalmic genetics. 23(2)
Purpose: Examination of retinal function as measured by flash electroretinogram (ERG) including oscillatory potentials (OPs) and pattern electroretinogram (PERG) in a series of patients with unilateral sporadic retinoblastoma. Patients: Studies were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c86e923ef9957df46ade89b750f6c91
https://pubmed.ncbi.nlm.nih.gov/12187428
https://pubmed.ncbi.nlm.nih.gov/12187428
Autor:
Anna Jakubowska, Karol Krzystolik, Białas B, Ireneusz Kojder, Alessandra Murgia, Koraszewska-Matuszewska B, Stanislaw Zajaczek, Pecold K, L. Cyryłowski, Zdunek M, Fiszer-Maliszewska Ł, Maddalena Martella, Ryszard Słomski, Aleksandra Tołoczko-Grabarek, Przemysław Nowacki, Jaskólski D, Prost M, Cezary Cybulski, Tadeusz Dębniak, Jacek Gronwald, Leszek Sagan, Cwirko M, Bohdan Górski, Grzegorz Kurzawski, Omulecka A, E Kostyk, Bartłomiej Gliniewicz, Aleksander F. Sikorski, Starzycka M, Olga Haus, Hanna Janiszewska, Jakub Lubiński, Kałuza J, Janusz Limon
Publikováno v:
Scopus-Elsevier
BASE-Bielefeld Academic Search Engine
BASE-Bielefeld Academic Search Engine
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder characterised by a predisposition to haemangioblastomas of the central nervous system (cHAB) and retina (rHAB), renal cell carcinomas (RCC), phaeochromocytomas and paragangliomas,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6434abfcb54b38421b0bfb69366c4e98
http://hdl.handle.net/11577/1355007
http://hdl.handle.net/11577/1355007
