Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Iwona Pinkier"'
Autor:
Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterog
Externí odkaz:
https://doaj.org/article/f46f73cf625d46ddb2885a7702d86c5c
Autor:
Kinga Sałacińska, Izabela Michałus, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna‐Sokół, Elżbieta Jakubowska‐Pietkiewicz, Łukasz Kępczyński, Dominik Salachna, Agnieszka Gach
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mil
Externí odkaz:
https://doaj.org/article/d6f1f8f7e9954f2a972ca884ec1ee2d5
Autor:
Agnieszka Gach, Iwona Pinkier, Urszula Wysocka, Kinga Sałacińska, Dominik Salachna, Maria Szarras-Czapnik, Aleksandra Pietrzyk, Agata Sakowicz, Anna Nykel, Lena Rutkowska, Magda Rybak-Krzyszkowska, Magda Socha, Aleksander Jamsheer, Lucjusz Jakubowski
Publikováno v:
Archives of Medical Science, Vol 18, Iss 2, Pp 353-364 (2020)
Introduction Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred t
Externí odkaz:
https://doaj.org/article/17273f549c61435aa7493a6bdccb2e0e
Publikováno v:
Reproductive Biology and Endocrinology, Vol 18, Iss 1, Pp 1-8 (2020)
Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a rare disease, triggered by defective GnRH secretion, that is usually diagnosed in late adolescence or early adulthood due to the lack of spontaneous pubertal development. To date
Externí odkaz:
https://doaj.org/article/c3cbc0ac591a42ca8ada1c11096fcbdd
Autor:
Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Aleksander Jamsheer, Ewelina Bukowska-Olech, Ilona Jaszczuk, Lucjusz Jakubowski, Agnieszka Gach
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Osteogenesis imperfecta (OI) is a rare genetic disorder demonstrating considerable phenotypic and genetic heterogeneity. The extensively studied genotype–phenotype correlation is a crucial issue for a reliable counseling, as the disease is recogniz
Externí odkaz:
https://doaj.org/article/6b234bb895cc4552bbacaa244b5a5826
Autor:
Lena Rutkowska, Iwona Pinkier, Kinga Sałacińska, Łukasz Kępczyński, Dominik Salachna, Joanna Lewek, Maciej Banach, Paweł Matusik, Ewa Starostecka, Andrzej Lewiński, Rafał Płoski, Piotr Stawiński, Agnieszka Gach
Publikováno v:
Genes; Volume 13; Issue 8; Pages: 1424
Familial hypercholesterolemia (FH) is an inherited, autosomal dominant metabolic disorder mostly associated with disease-causing variant in LDLR, APOB or PCSK9. Although the dominant changes are small-scale missense, frameshift and splicing variants,
Publikováno v:
Reproductive Biology and Endocrinology, Vol 18, Iss 1, Pp 1-8 (2020)
Reproductive Biology and Endocrinology : RB&E
Reproductive Biology and Endocrinology : RB&E
Background Congenital hypogonadotropic hypogonadism (CHH) is a rare disease, triggered by defective GnRH secretion, that is usually diagnosed in late adolescence or early adulthood due to the lack of spontaneous pubertal development. To date more tha
Autor:
Pawel Matusik, Olimpia Zajdel-Cwynar, Aneta Gawlik, Iwona Pinkier, Agnieszka Gach, Grzegorz Kudela
Publikováno v:
International Journal of Environmental Research and Public Health, Vol 18, Iss 7186, p 7186 (2021)
International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health
A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed i
Autor:
Lena Rutkowska, Kinga Sałacińska, Dominik Salachna, Paweł Matusik, Iwona Pinkier, Łukasz Kępczyński, Małgorzata Piotrowicz, Ewa Starostecka, Andrzej Lewiński, Agnieszka Gach
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 999
The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-k
Autor:
Lech Dudarewicz, Wojciech Ałaszewski, Urszula Wysocka, Agata Sakowicz, Iwona Pinkier, Agnieszka Gach, Magda Rybak-Krzyszkowska, Lucjusz Jakubowski
Publikováno v:
Ginekologia polska.
Objectives: Recurrent reproductive loss (RPL) is a global health issue affecting a significant number of women. Approximately half of miscarriages have an unexplained etiology. Familial aggregation and twins studies prove that some cases of the RPL c