Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Maria Wypchło"'
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple a
Externí odkaz:
https://doaj.org/article/553866f4bf174316a511b46b7d4336ff
Autor:
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Agnieszka Pollak, Maria Wypchło, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Joanna Pawłowska, Irena Jankowska
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Objective: To evaluate the clinical utility of panel-based NGS in the diagnostic approach of monogenic cholestatic liver diseases.Study design: Patients with diagnosis of chronic cholestatic liver disease of an unknown etiology underwent NGS of targe
Externí odkaz:
https://doaj.org/article/090284bcdf59446799ebf5f895238607
Autor:
Barbara Oleksy, Hanna Mierzewska, Jolanta Tryfon, Maria Wypchło, Krystyna Wasilewska, Zofia Zalewska-Miszkurka, Rafał Płoski, Małgorzata Rydzanicz, Elżbieta Szczepanik
Publikováno v:
Molecular Syndromology. 13:132-138
We report on the first Polish patient diagnosed with the Aicardi-Goutières syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH, LSM11, RNU7-1) which stimulate the type I interferon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f2d04e9ce25aa284d66e4a22684a2fa
https://doi.org/10.1159/000518941
https://doi.org/10.1159/000518941
Autor:
Elżbieta Jurkiewicz, Teresa Joanna Stradomska, Małgorzata Rydzanicz, Anna Tylki-Szymańska, Frédéric M. Vaz, Sacha Ferdinandusse, Ronald J.A. Wanders, Piotr Stawiński, Maria Wypchło, Rafał Płoski, Patryk Lipiński
Publikováno v:
Journal of applied genetics, 61(1), 87-91. Springer Berlin
Journal of Applied Genetics
Journal of Applied Genetics
Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abacc2a7db7aea272ea426eaa8c6c561
https://pure.amc.nl/en/publications/mild-zellweger-syndrome-due-to-functionally-confirmed-novel-pex1-variants(9983a64a-7d0c-45de-90e1-a8a5bfc11a33).html
https://pure.amc.nl/en/publications/mild-zellweger-syndrome-due-to-functionally-confirmed-novel-pex1-variants(9983a64a-7d0c-45de-90e1-a8a5bfc11a33).html
