Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Maciej R. Krawczyński"'
Autor:
Ewa Matczyńska, Marta Beć-Gajowniczek, Larysa Sivitskaya, Elżbieta Gregorczyk, Przemysław Łyszkiewicz, Robert Szymańczak, Maria Jędrzejowska, Edward Wylęgała, Maciej R. Krawczyński, Sławomir Teper, Anna Boguszewska-Chachulska
Publikováno v:
Biomedicines, Vol 12, Iss 6, p 1355 (2024)
Advances in gene therapy and genome editing give hope that new treatments will soon be available for inherited eye diseases that together affect a significant proportion of the adult population. New solutions are needed to make genetic diagnosis fast
Externí odkaz:
https://doaj.org/article/983efdecb6184a87ae87baa8abda4dfd
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short limbs, narrow thorax, brachydactyly, ectodermal abnormalities, and renal insufficien
Externí odkaz:
https://doaj.org/article/0e0d5cf622d04179ab39c703254bd1dc
Autor:
Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R. Krawczyński
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 24, p 17496 (2023)
Leber hereditary optic neuropathy (LHON) is a rare disorder causing a sudden painless loss of visual acuity in one or both eyes, affecting young males in their second to third decade of life. The molecular background of the LHON is up to 90%, genetic
Externí odkaz:
https://doaj.org/article/857ab4e71b654e248739c54600f93e0e
Autor:
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Externí odkaz:
https://doaj.org/article/093c479a2afb4c8eb2eb56f757584e8d
Autor:
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R. Krawczyński
Publikováno v:
Diagnostics, Vol 13, Iss 4, p 730 (2023)
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss of photoreceptor and pigment epithelial function. Nineteen unrelated Polish probands clinically diagnosed with nonsyndromic RP were recru
Externí odkaz:
https://doaj.org/article/461f1fb5d9d54ac3ac88ea28ca89e08e
Autor:
Małgorzata Sobolewska, Marta Świerczyńska, Mariola Dorecka, Dorota Wyględowska-Promieńska, Maciej R. Krawczyński, Ewa Mrukwa-Kominek
Publikováno v:
Medicina, Vol 59, Iss 2, p 399 (2023)
Background: Cone–rod dystrophies (CRDs) are a heterogeneous group of inherited retinal diseases (IRDs) characterized by cone photoreceptor loss, that is followed by subsequent rod photoreceptor impairment. Case presentation: A 49-year-old man compl
Externí odkaz:
https://doaj.org/article/1b2f7f5a182f48b0aa5711294753182b
Autor:
Anna Braszak-Cymerman, Marta K. Walczak, Anna Skorczyk-Werner, Maciej R. Krawczyński, Wiesław Bryl
Publikováno v:
Polish Archives of Internal Medicine.
Autor:
Ewelina Bukowska-Olech, Aleksander Jamsheer, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Bartłomiej Budny, Magdalena Pilas-Pomykalska, Magdalena Socha, Lukasz Kuszel, Maciej R Krawczyński
Publikováno v:
American Journal of Medical Genetics Part A. 188:642-647
Aniridia is usually an autosomal dominant, rare disorder characterized by a variable degree of hypoplasia or the absence of iris tissue, with additional ocular abnormalities. Pathogenic variants in the PAX6 gene are associated with aniridia in most p
Autor:
Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud
Publikováno v:
Frontiers in genetics. 13
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating tho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-19 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in the pathoge