Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Anna Kutkowska-Kaźmierczak"'
Autor:
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka, Adrianna Mika, Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Agnieszka Sobczyńska-Tomaszewska, Bartłomiej Wawrzycki, Aldona Pietrzak, Robert Śmigiel, Bartosz Wojtaś, Bartłomiej Gielniewski, Alicja Szabelska-Beresewicz, Joanna Zyprych-Walczak, Agnieszka Magdalena Rygiel, Alicja Domaszewicz, Natalia Braun-Walicka, Alicja Grabarczyk, Sylwia Rzońca-Niewczas, Ruszkowska Lidia, Mateusz Dawidziuk, Dominik Domański, Tomasz Gambin, Monika Jackiewicz, Katarzyna Duk, Barbara Dorożko, Orest Szczygielski, Natalia Krześniak, Bartłomiej H Noszczyk, Ewa Obersztyn, Jolanta Wierzba, Artur Barczyk, Jennifer Castaneda, Anna Eckersdorf-Mastalerz, Anna Jakubiuk-Tomaszuk, Paweł Własienko, Ilona Jaszczuk, Aleksandra Jezela-Stanek, Jakub Klapecki, Michel van Geel, Cezary Kowalewski, Jerzy Bal, Antoni Gostyński
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms
Externí odkaz:
https://doaj.org/article/fa4b27d36ae94c2aad70ecdc21678bb1
Autor:
Anna Hogendorf, Maciej Zieliński, Maria Constantinou, Robert Śmigiel, Jolanta Wierzba, Krystyna Wyka, Anna Wędrychowicz, Anna Jakubiuk-Tomaszuk, Edyta Budzynska, Malgorzata Piotrowicz, Beata S. Lipska-Ziętkiewicz, Ewa Kaczorowska, Agata Cieślikowska, Anna Kutkowska-Kaźmierczak, Jolanta Fijak-Moskal, Monika Kugaudo, Małgorzata Kosińska-Urbańska, Agnieszka Szadkowska, Maciej Borowiec, Maciej Niedźwiecki, Piotr Trzonkowski, Wojciech Młynarski
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
IntroductionAutoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the prevalence, mechanism, and genetic background of autoimmunity, immune deficiency,
Externí odkaz:
https://doaj.org/article/27d4cd25ece548db9cc37e3550613412
Autor:
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 680
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b575ffeee0fdefc1ded58b857c397cdc
Autor:
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Śmigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Rafał Płoski, Ewa Emich-Widera, Barbara Steinborn
Publikováno v:
Genes; Volume 14; Issue 5; Pages: 972
Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93759acc1106c9490ac3df562ac89ebe
https://doi.org/10.3390/genes14050972
https://doi.org/10.3390/genes14050972
Autor:
Anna Kutkowska-Kaźmierczak, Andrzej Kochański, Katarzyna Jankowska, Jolanta Słowikowska-Hilczer, Wojciech Zgliczyński
Publikováno v:
Endokrynologia Polska. 71:561-572
Male infertility is the cause of couples' infertility in about 50% of cases. Current recommendations on the diagnosis and treatment of male infertility advance thorough medical history taking and physical examination, to provide the basis for further
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83244627ffe27192690daa4b1757dd58
https://doi.org/10.5603/ep.a2020.0081
https://doi.org/10.5603/ep.a2020.0081
Autor:
Anna Kucińska-Chahwan, Maciej Geremek, Tomasz Roszkowski, Julia Bijok, Diana Massalska, Michał Ciebiera, Hildeberto Correia, Iris Pereira-Caetano, Ana Barreta, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Małgorzata Krajewska-Walasek, Piotr Węgrzyn, Lech Dudarewicz, Waldemar Krzeszowski, Magda Rybak-Krzyszkowska, Beata Nowakowska
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 724
This article belongs to the Special Issue Novel Insights into Prenatal Genetic Testing. Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ef872ed2d51d2197a0c295c7a0d632
Autor:
Jarosław Poznański, Justyna Sawicka, Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Anna Kutkowska-Kaźmierczak, Agnieszka Magdalena Rygiel, Cezary Kowalewski, A. Tysarowski, Jerzy Bal, Katarzyna Woźniak, Katarzyna Niepokój, N. Braun-Walicka
Publikováno v:
Journal of Applied Genetics
Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269ffbd60d035f45e6dcff4c4006ec79
http://europepmc.org/articles/PMC7148260
http://europepmc.org/articles/PMC7148260
Autor:
Katarzyna Bzdęga, Anna Kutkowska-Kaźmierczak, Gail H. Deutsch, Izabela Plaskota, Marta Smyk, Magdalena Niemiec, Artur Barczyk, Ewa Obersztyn, Jan Modzelewski, Iwona Lipska, Paweł Stankiewicz, Marzena Gajecka, Małgorzata Rydzanicz, Rafał Płoski, Tomasz Szczapa, Justyna A. Karolak
Publikováno v:
Genes. 14:563
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::63e1431ddc7315c341edad4cf1021c14
https://doi.org/10.3390/genes14030563
https://doi.org/10.3390/genes14030563
Autor:
Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski
Publikováno v:
Genes, Vol 12, Iss 2014, p 2014 (2021)
Genes
Genes; Volume 12; Issue 12; Pages: 2014
Genes
Genes; Volume 12; Issue 12; Pages: 2014
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49235a178642e6a9b948f676cbdde21
https://www.mdpi.com/2073-4425/12/12/2014
https://www.mdpi.com/2073-4425/12/12/2014
Autor:
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Publikováno v:
Genes, Vol 12, Iss 1257, p 1257 (2021)
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b1614593f5219aa4700ebe069032ed0f
https://www.mdpi.com/2073-4425/12/8/1257
https://www.mdpi.com/2073-4425/12/8/1257