Zobrazeno 1 - 10
of 151
pro vyhledávání: '"L. Korniszewski"'
Autor:
Andrzej Dziembowski, Aleksander Chlebowski, Tomasz Kmieć, Adriana Mika, Kamila Klosowska-Kosicka, Elżbieta Jurkiewicz, Małgorzata Rydzanicz, Dariusz Śladowski, Anna Walczak, Wieslaw Nowak, Rafał Jakubowski, Agnieszka Pollak, Cezary Kowalewski, Anna Kutkowska-Kaźmierczak, Joanna Kosińska, Teresa Joanna Stradomska, Rafał Płoski, L Korniszewski, Jakub Gruchota, Piotr Gasperowicz, Tomasz Śledziński, Ewa Jankowska-Steifer, Ewa Obersztyn
Publikováno v:
Journal of Medical Genetics. 55:408-414
BackgroundIchthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function.ObjectivesTo identify the cause of a similar phenotype of ichthyotic kera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e01cfb233c44ac4bb20c238296210c2
https://doi.org/10.1136/jmedgenet-2017-105172
https://doi.org/10.1136/jmedgenet-2017-105172
Autor:
Urszula Lechowicz, Agata Skórka, Przemysław Westfal, Henryk Skarżyński, L Korniszewski, Agnieszka Pollak, Katarzyna Iwanicka-Pronicka, Rafał Płoski
Publikováno v:
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
BACKGROUND Hearing loss is one of the most common symptoms of mitochondrial disorders. However, audiological phenotypes associated with different molecular defects in mtDNA are not yet well characterized. MATERIAL AND METHODS A large cohort of 1499 n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d33bca023d806d478c601a57f9fdfdd
https://doi.org/10.12659/msm.890965
https://doi.org/10.12659/msm.890965
Autor:
Pawel Stankiewicz, Ewa Bocian, Sau Wai Cheung, Katarzyna Borg, Tadeusz Mazurczak, Joanna Brycz-Witkowska, Beata Nowakowska, Ewa Obersztyn, L Korniszewski
Publikováno v:
American Journal of Medical Genetics Part A. :2738-2743
Complex chromosome rearrangements (CCRs) are rare structural abnormalities that involve at least two chromosomes and more than two breakpoints and are often associated with developmental delay, mental retardation, and congenital anomalies. We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50002e3bfa154439de3dd153992fc982
https://doi.org/10.1002/ajmg.a.32017
https://doi.org/10.1002/ajmg.a.32017
Publikováno v:
European Journal of Medical Genetics. 49:83-86
Fibular aplasia-ectrodactyly is a rare disorder of the central axis, characterized by shortening of the affected limbs and formation of split hand and/or foot. Here we report on a severely affected case of fibular aplasia with ectrodactyly, in which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11fc155a8cca20b0f7e38a5bd54b7930
https://doi.org/10.1016/j.ejmg.2005.04.019
https://doi.org/10.1016/j.ejmg.2005.04.019
Autor:
A. Jóźwiak, S. Gawlik-Zawiślak, J. Bogdanowicz, L. Korniszewski, Barbara Pawłowska, B. Sobiczewska, E. Zdzienicka, Jacek Zaremba, Alicja Ilnicka
Publikováno v:
Journal of Applied Genetics. 51:215-217
Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78dd7d8a2ae9fbe6e98b8cb8813d694f
https://doi.org/10.1007/bf03195731
https://doi.org/10.1007/bf03195731
Autor:
L Korniszewski, Jakub Gruchota, Rafał Płoski, Bartosz Stolarski, Ewa Pronicka, Agnieszka Pollak, Małgorzata Rogaszewska
Publikováno v:
Molecular Genetics and Metabolism. 87:376-378
We studied 28 Polish hereditary fructose intolerant (HFI) patients (26 unrelated) by direct sequencing of the ALDOB coding region/splice sites. Eight different mutations were found including two novel ones (each found in two unrelated individuals): c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcd40213ac96875ddbd238813c2e84b3
https://doi.org/10.1016/j.ymgme.2005.11.010
https://doi.org/10.1016/j.ymgme.2005.11.010
Publikováno v:
European Respiratory Journal. 22:709-711
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene, which has a central function in maintaining immunological tolerance. A number of conditions with proven or likely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ca93660366319968b7461a7f258b43
https://doi.org/10.1183/09031936.03.00018203
https://doi.org/10.1183/09031936.03.00018203
Autor:
Mariusz Furmanek, Henryk Skarżyński, Urszula Lechowicz, L Korniszewski, Maciej Rzeski, Rafał Płoski, Agata Skórka, Katarzyna Iwanicka-Pronicka, Agnieszka Pollak, Magdalena Pajdowska
Publikováno v:
PLoS ONE
PLoS ONE, Vol 7, Iss 10, p e44054 (2012)
PLoS ONE, Vol 7, Iss 10, p e44054 (2012)
BACKGROUND: The prevalence of isolated hearing loss (HL) associated with the m.3243A>G mutation is unknown. The aim of this study was to assess the frequency and heteroplasmy level of the m.3243A>G mutation in a large group of Polish patients with po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe8fe4eee73a1d9ce277b42de2d978f
http://europepmc.org/articles/PMC3485002
http://europepmc.org/articles/PMC3485002
Autor:
Anna Waskiewicz, Małgorzata Mueller-Malesińska, L Korniszewski, Henryk Skarżyński, Urszula Lechowicz, Grażyna Broda, Rafał Płoski, Agata Skórka, Monika Ołdak, Agnieszka Sobczyk-Kopcioł, Agnieszka Pollak, Katarzyna Iwanicka-Pronicka
Publikováno v:
DNA and cell biology. 31(7)
Hearing impairment (HI) is the most common sensory handicap. Congenital HI often has a genetic basis, whereas the etiology of nonsyndromic postlingual HI (npHI) usually remains unidentified. Our purpose was to test whether the MTHFR C677T (rs1801133)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ba87958444c3a4edab4d23a6212513
https://pubmed.ncbi.nlm.nih.gov/22424391
https://pubmed.ncbi.nlm.nih.gov/22424391
Autor:
L Korniszewski, Alina T. Midro, Nicole Maas, Serena Lattante, Marcella Zollino, Marina Murdolo, Piotr S. Iwanowski, Barbara Panasiuk, M Myśliwiec, Griet Van Buggenhout, Renata Posmyk, Stanislaw Zajączek, Jacek Pilch, Jean-Pierre Fryns
Publikováno v:
American journal of medical genetics. Part A. (8)
The aim of this study was to obtain a quantitative definition of Wolf-Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six children with 4p15.32 → pter, 4p15.33 → pter, or 4p16.1 → pter monosomy (considered togethe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6b187baf3d0f04149f5452cdc3b35e
https://pubmed.ncbi.nlm.nih.gov/21744486
https://pubmed.ncbi.nlm.nih.gov/21744486