Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Maciej R. Krawczynski"'
Autor:
Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R. Krawczynski
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5759 (2024)
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex
Externí odkaz:
https://doaj.org/article/a5abbf4d9d5947d68d3b4161e94a8bca
Autor:
Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela
Publikováno v:
International Journal of Endocrinology, Vol 2016 (2016)
X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laborato
Externí odkaz:
https://doaj.org/article/5396c66c2ffc447b80f4aeb6bbc066ce
Publikováno v:
Congenital Anomalies.
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
Publikováno v:
Klinika oczna. 118(3)
Background: Molecular analysis of the NDP gene to confirm and precise the clinical diagnosis in two patients with X-linked familial exudative vitreoretinopathy (XL-FEVR). Material and methods: We report two patients from unrelated families with NDP g
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:
Anna, Wawrocka, Susanne, Kohl, Britta, Baumann, Joanna, Walczak-Sztulpa, Katarzyna, Wicher, Anna, Skorczyk-Werner, Maciej R, Krawczynski
Publikováno v:
Molecular Vision
Purpose To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. Methods In this study, we investigated probands with a clinical diagnosis of ACHM. Ophthalmologic examinations, including visual acuit
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