Zobrazeno 1 - 10
of 24
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:
Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela
Publikováno v:
Endocrine Connections, Vol 7, Iss 12, Pp 1480-1490 (2018)
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are les
Externí odkaz:
https://doaj.org/article/a2b0a90641dc40f28f5f000b15f6e50f
Publikováno v:
Congenital Anomalies.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2d87288fc7212e5a05e4dc73ef37cf0
https://doi.org/10.1111/cga.12520
https://doi.org/10.1111/cga.12520
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::63689595ffaf214c3ab2dae65cb75ab4
https://pubmed.ncbi.nlm.nih.gov/30088388
https://pubmed.ncbi.nlm.nih.gov/30088388
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ea590118bf3bec1e8c98309076eb86b
https://pubmed.ncbi.nlm.nih.gov/25558176
https://pubmed.ncbi.nlm.nih.gov/25558176
Autor:
Wawrocka, Anna1 (AUTHOR) aniawawrocka@ump.edu.pl, Walczak-Sztulpa, Joanna1 (AUTHOR) kuszel@ump.edu.pl, Kuszel, Lukasz1 (AUTHOR) askorczyk@ump.edu.pl, Niedziela-Schwartz, Zuzanna2 (AUTHOR) z.niedziela@gmail.com, Skorczyk-Werner, Anna1 (AUTHOR) mrkrawcz@ump.edu.pl, Bernardczyk-Meller, Jadwiga3 (AUTHOR) jbmeller@poczta.onet.pl, Krawczynski, Maciej R.1,4 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5759. 12p.
Publikováno v:
Gene Therapy Weekly; 7/12/2024, p1298-1298, 1p
Publikováno v:
Congenital Anomalies; Jul2023, Vol. 63 Issue 4, p109-115, 7p
Autor:
Wawrocka, Anna, Walczak‐Sztulpa, Joanna, Socha, Magdalena, Kuszel, Lukasz, Sowinska‐Seidler, Anna, Budny, Bartlomiej, Bukowska‐Olech, Ewelina, Pilas‐Pomykalska, Magdalena, Jamsheer, Aleksander, Krawczynski, Maciej R.
Publikováno v:
American Journal of Medical Genetics. Part A; Feb2022, Vol. 188 Issue 2, p642-647, 6p