Search Results - "Krawczyński, Maciej"

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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Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease by Purzycka-Olewiecka, Joanna Karolina, Hetmańczyk-Sawicka, Katarzyna, Kmieć, Tomasz, Szczęśniak, Dominika, Trubicka, Joanna, Krawczyński, Maciej, Pronicki, Maciej, Ługowska, Agnieszka

“…Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss,…”
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m.3635G>A mutation as a cause of Leber hereditary optic neuropathy by Kodroń, Agata, Krawczyński, Maciej R, Tońska, Katarzyna, Bartnik, Ewa

“…Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are…”
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Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe by Ścieżyńska, Aneta, Oziębło, Dominika, Ambroziak, Anna M., Korwin, Magdalena, Szulborski, Kamil, Krawczyński, Maciej, Stawiński, Piotr, Szaflik, Jerzy, Szaflik, Jacek P., Płoski, Rafał, Ołdak, Monika

“…Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic retinal diseases. The study aimed to discover causative ABCA4 mutations in a…”
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Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities by Biernacka, Elżbieta K, Osadnik, Tadeusz, Bilińska, Zofia T, Krawczyński, Maciej, Latos-Bieleńska, Anna, Łaczmańska, Izabela, Miszczak-Knecht, Maria, Płoski, Rafał, Ponińska, Joanna K, Prejbisz, Aleksander, Rubiś, Paweł, Rudnicka, Aleksandra, Szczałuba, Krzysztof, Szczygieł, Justyna A, Własienko, Paweł, Wołczenko, Agnieszka, Zienciuk-Krajka, Agnieszka, Ziółkowska, Lidia, Gil, Robert

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Achromatopsia mutations target sequential steps of ATF6 activation by Chiang, Wei-Chieh, Chan, Priscilla, Wissinger, Bernd, Vincent, Ajoy, Skorczyk-Werner, Anna, Krawczyński, Maciej R., Kaufman, Randal J., Tsang, Stephen H., Héon, Elise, Kohl, Susanne, Lin, Jonathan H.

“…Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor dysfunction. We recently identified activating transcription factor 6…”
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The genetics of aniridia — simple things become complicated by Wawrocka, Anna, Krawczynski, Maciej R.

“…Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular…”
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DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients by Skorczyk-Werner, Anna, Tońska, Katarzyna, Maciejczuk, Aleksandra, Nowomiejska, Katarzyna, Korwin, Magdalena, Ołdak, Monika, Wawrocka, Anna, Krawczyński, Maciej R

“…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…”
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Novel variants in the PAX6 gene related to isolated aniridia by Kuchalska, Katarzyna, Wawrocka, Anna, Krawczynski, Maciej R.

“…Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused…”
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Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes by Wawrocka, Anna, Walczak-Sztulpa, Joanna, Kuszel, Lukasz, Niedziela-Schwartz, Zuzanna, Skorczyk-Werner, Anna, Bernardczyk-Meller, Jadwiga, Krawczynski, Maciej R

“…Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe…”
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Novel gene variants in Polish patients with Leber congenital amaurosis (LCA) by Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert

“…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…”
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Metastasis of basal cell carcinoma to lymph nodes in a patient with Gorlin syndrome - case report and literature review by Bajon, Tomasz, Adamiak, Ewa, Krawczynski, Maciej

“…Background: Basal cell carcinoma of the skin is the most common malignant cancer worldwide. It is characterized by a low grade of malignancy and it gives very…”
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From Cushing syndrome to lipodystrophy: an ultrarare case of MFN2-associated lipomatosis by Braszak-Cymerman, Anna, Walczak, Marta K, Skorczyk-Werner, Anna, Krawczyński, Maciej R, Bryl, Wiesław

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CDHR1 -Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report by Sobolewska, Małgorzata, Świerczyńska, Marta, Dorecka, Mariola, Wyględowska-Promieńska, Dorota, Krawczyński, Maciej R, Mrukwa-Kominek, Ewa

“…Cone-rod dystrophies (CRDs) are a heterogeneous group of inherited retinal diseases (IRDs) characterized by cone photoreceptor loss, that is followed by…”
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Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa by Wawrocka, Anna, Socha, Magdalena, Walczak-Sztulpa, Joanna, Koczyk, Grzegorz, Skorczyk-Werner, Anna, Krawczyński, Maciej R

“…Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss of photoreceptor and pigment epithelial…”
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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.

“…Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing…”
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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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Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS by Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert

“…Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and the most frequent cause of congenital blindness in children. To…”
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Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland by Matczyńska, Ewa, Beć-Gajowniczek, Marta, Sivitskaya, Larysa, Gregorczyk, Elżbieta, Łyszkiewicz, Przemysław, Szymańczak, Robert, Jędrzejowska, Maria, Wylęgała, Edward, Krawczyński, Maciej R, Teper, Sławomir, Boguszewska-Chachulska, Anna

“…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…”
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Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner by Wawrocka, Anna, Walczak‐Sztulpa, Joanna, Pawlak, Marta, Gotz‐Wieckowska, Anna, Krawczynski, Maciej R.

“…Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations, corresponding, respectively, to absent eyeball or reduced size of…”
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