Search Results - "Wicher, Katarzyna"

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe) by Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.

“…Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small,…”
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Comparison of the efficacy and toxicity of anti-PD-1 monoclonal antibodies (nivolumab versus pembrolizumab) in treatment of patients with metastatic melanoma by Cybulska-Stopa, Bozena, Zietek, Marcin, Czarnecka, Anna Malgorzata, Piejko, Karolina, Dziura, Robert, Galus, Łukasz, Ziółkowska, Barbara, Kieszko, Stanisław, Kempa-Kamińska, Natasza, Calik, Jacek, Gajewska-Wicher, Katarzyna, Gądek, Kamila, Sałek-Zań, Agata, Seredyńska, Joanna, Drosik-Kwaśniewska, Anna, Kaminska-Winciorek, Grazyna, Kubiatowski, Tomasz, Suwiński, Rafał, Mackiewicz, Jacek, Rutkowski, Piotr

“…Abstract only e21514 Background: Anti-programmed cell death-1 antibodies (anti-PD-1) have become a standard treatment option for melanoma patients. Currently,…”
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Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene by Skorczyk-Werner, Anna, Chiang, Wei-Chieh, Wawrocka, Anna, Wicher, Katarzyna, Jarmuż-Szymczak, Małgorzata, Kostrzewska-Poczekaj, Magdalena, Jamsheer, Aleksander, Płoski, Rafał, Rydzanicz, Małgorzata, Pojda-Wilczek, Dorota, Weisschuh, Nicole, Wissinger, Bernd, Kohl, Susanne, Lin, Jonathan H, Krawczyński, Maciej R

“…Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput…”
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Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy by Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R

“…The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of…”
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Quiz WHAT IS YOUR DIAGNOSIS? by Harazin-Lechowska, Agnieszka, Januś, Grzegorz, Ambicka, Aleksandra, Przewoźnik, Marcin, Cybulska-Stopa, Bożena, Gajewska-Wicher, Katarzyna, Ryś, Janusz

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First-line treatment of advanced/metastatic melanoma with anti-PD-1 antibodies: multicenter experience in Poland by Cybulska-Stopa, Bożena, Pacholczak-Madej, Renata, Kamińska-Winciorek, Grażyna, Ziętek, Marcin, Czarnecka, Anna M, Piejko, Karolina, Galus, Łukasz, Ziółkowska, Barbara, Kieszko, Stanisław, Kempa-Kamińska, Natasza, Calik, Jacek, Rolski, Janusz, Sałek-Zań, Agata, Gajewska-Wicher, Katarzyna, Drosik-Kwaśniewska, Anna, Rogala, Paweł, Kubiatowski, Tomasz, Suwiński, Rafał, Mackiewicz, Jacek, Rutkowski, Piotr

“…To evaluate treatment results in advanced/metastatic melanoma patients treated with anti-PD-1 immunotherapy in routine practice in oncology centers in Poland…”
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Five novel CNGB3 gene mutations in Polish patients with achromatopsia by Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R

“…To identify the genetic basis of achromatopsia (ACHM) in four patients from four unrelated Polish families. In this study, we investigated probands with a…”
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Alström syndrome: A case report of the Polish family and a brief review of the differential diagnosis by Wicher, Katarzyna, Bajon, Tomasz, Wawrocka, Anna, Skorczyk-Werner, Anna, Niedziela, Marek, Krawczynski, Maciej Robert

“…Alström syndrome (ALMS) is an autosomal recessive disorder caused by mutations in the ALMS1 gene. We report two brothers from Poland, initially diagnosed with…”
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Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly by Badura-Stronka, Magdalena, Mróz, Dariusz, Beighton, Peter, Łukawiecki, Sebastian, Wicher, Katarzyna, Latos-Bieleńska, Anna, Kozłowski, Kazimierz

“…Background Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of…”
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The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation by Skorczyk-Werner, Anna, Kocięcki, Jarosław, Wawrocka, Anna, Wicher, Katarzyna, Krawczyńiski, Maciej Robert

“…Oguchi disease type 2 is a rare autosomal recessive form of congenital stationary night blindness. A typical feature of this disorder is a golden-brown…”
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