Search Results - "Krawczynski, Maciej"

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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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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Current models of care for disorders of sex development - results from an International survey of specialist centres by Kyriakou, Andreas, Dessens, Arianne, Bryce, Jillian, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Nordenskjöld, Agneta, Rozas, Marta, Sanders, Caroline, Hiort, Olaf, Ahmed, S Faisal

“…To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey…”
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Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation by Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa

“…Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the…”
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders by Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H, Taylor, John, Downes, Susan, Krawczynski, Maciej R, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A, Moore, Anthony T, Duncan, Jacque L, Menendez, Beatriz, Hull, Sarah, Vincent, Andrea L, Siskind, Carly E, Traboulsi, Elias I, Blackstone, Craig, Sisk, Robert A, Miraldi Utz, Virginia, Webster, Andrew R, Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B

“…Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism…”
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Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family by Pojda-Wilczek, Dorota, Wójcik, Justyna, Kmak, Bożena, Krawczyński, Maciej Robert

“…Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of…”
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Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Kuszel, Łukasz, Pietras, Paulina, Leśniczak-Staszak, Marta, Andrusiewicz, Mirosław, Krawczyński, Maciej R, Latos-Bieleńska, Anna, Pawlak, Marta, Grenda, Ryszard, Materna-Kiryluk, Anna, Oud, Machteld M, Szaflarski, Witold

“…Cranioectodermal dysplasia (CED) is a skeletal autosomal recessive ciliopathy. The characteristic clinical features of CED are facial dysmorphisms, short…”
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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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