Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Ágnes Mikó"'
Autor:
Ágnes Mikó, Szendile Lóth, Judit Müller, Bence Lotz, Patrizio Rossitto, Andrea Szabolcs, Gábor Benyó, Eszter Jávorszky, Kálmán Tory, Antal Dezsőfi
Publikováno v:
Orvosi Hetilap. 163:74-78
Összefoglaló. Az arthrogryposis–renalis diszfunkció–cholestasis (ARC) szindróma igen rossz prognózisú autoszomális recesszív kórkép. A három vezető tünethez társulhat központi idegrendszeri érintettség, siketség, cardiovasculari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8148d5bce72677a765b07e108d6ae00
https://doi.org/10.1556/650.2022.32312
https://doi.org/10.1556/650.2022.32312
Publikováno v:
Human mutationREFERENCES. 42(11)
We aimed to identify incompletely penetrant (IP) variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Genotype and clinical data were collected from 9038 patients of European origin with ASL, ATP7B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9f30cfd0f719c3563ddb3f5dad6f9c5
https://pubmed.ncbi.nlm.nih.gov/34405919
https://pubmed.ncbi.nlm.nih.gov/34405919
Autor:
Ágnes, Mikó, Szendile, Lóth, Judit, Müller, Bence, Lotz, Patrizio, Rossitto, Andrea, Szabolcs, Gábor, Benyó, Eszter, Jávorszky, Kálmán, Tory, Antal, Dezsőfi
Publikováno v:
Orvosi hetilap. 163(2)
Összefoglaló. Az arthrogryposis-renalis diszfunkció-cholestasis (ARC) szindróma igen rossz prognózisú autoszomális recesszív kórkép. A három vezető tünethez társulhat központi idegrendszeri érintettség, siketség, cardiovascularis an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4e2a14eb1a050655d4475bff4db6fc86
https://pubmed.ncbi.nlm.nih.gov/34999573
https://pubmed.ncbi.nlm.nih.gov/34999573
Autor:
Daniela Quaglino, Sharon F. Terry, Nastassia Navasiolava, Koen van de Wetering, Federica Boraldi, Ágnes Mikó, Qiaoli Li, Olivier Vanakker, Shana Verschuere, Tamas Aranyi, Flóra Szeri, Jouni Uitto, Ludovic Martin, Kálmán Tory, Ambrus Kaposi
ABCC6 encodes a transmembrane transporter playing a primary role in the efflux of ATP from hepatocytes to the bloodstream. ATP is then cleaved to AMP and inorganic pyrophosphate, a major inhibitor of ectopic calcification. Pathogenic variants of ABCC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50ccac70ec1947b420e68cc9586cb1ad
https://doi.org/10.1101/2020.11.26.20236489
https://doi.org/10.1101/2020.11.26.20236489
Autor:
Andrei Buzatu, Mirza Dautbašić, Levente Szőcs, Milka Glavendekić, Milivoj Franjević, Csaba Béla Eötvös, Jean-Claude Streito, Iris Bernardinelli, Dimitrios N. Avtzis, Ágnes Mikó, Yuri I. Gninenko, Osman Muzejinović, Mariann Csepelényi, Márton Paulin, György Csóka, Constantin Netoiu, Flavius Bălăcenoiu, Milan Zúbrik, Dušan Jurc, Serap Mutun, Anikó Hirka, Csaba Gáspár, Ágnes Szénási, Maja Jurc, Boris Hrašovec
Publikováno v:
Agricultural and Forest Entomology
Agricultural and Forest Entomology, 2020, 22 (1), pp.61-74. ⟨10.1111/afe.12362⟩
Agricultural and Forest Entomology, Wiley, 2020, 22 (1), pp.61-74. ⟨10.1111/afe.12362⟩
Agricultural and Forest Entomology, 2020, 22 (1), pp.61-74. ⟨10.1111/afe.12362⟩
Agricultural and Forest Entomology, Wiley, 2020, 22 (1), pp.61-74. ⟨10.1111/afe.12362⟩
International audience; The North American oak lace bug feeds on leaves of 'white oaks" in its native range. In Europe, it was first discovered in northern Italy in 2000. In recent years, it has subsequently spread rapidly and population outbreaks ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a7befae320dcb1e6b0b9ee2e6068b3c
https://hal.inrae.fr/hal-02625536
https://hal.inrae.fr/hal-02625536
Publikováno v:
Human mutation. 39(12)
NPHS2, encoding podocin, is the major gene implicated in steroid-resistant nephrotic syndrome. Its c.686G>A, p.R229Q variant is the first human variant with a mutation-dependent pathogenicity; it is only pathogenic when trans-associated to specific m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7116ccaaff4d9a9e7c19a2f3148518f2
https://pubmed.ncbi.nlm.nih.gov/30260545
https://pubmed.ncbi.nlm.nih.gov/30260545
Autor:
András Perczel, Christelle Arrondel, Eszter Balogh, Dóra K. Menyhárd, Corinne Antignac, Alexandre Benmerah, Géraldine Mollet, Ágnes Mikó, Gusztáv Schay, Gerda L’Auné, Pál Stráner, Kálmán Tory
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease. 1864(7)
Interallelic interactions of membrane proteins are not taken into account while evaluating the pathogenicity of sequence variants in autosomal recessive disorders. Podocin, a membrane-anchored component of the slit diaphragm, is encoded by NPHS2, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00ab29fb321b59bee681fecdf3a05be
https://pubmed.ncbi.nlm.nih.gov/29660491
https://pubmed.ncbi.nlm.nih.gov/29660491
Autor:
Corinne Antignac, Kálmán Tory, Pál Stráner, Alexandre Benmerah, András Perczel, Géraldine Mollet, Gusztáv Schay, Gerda L’Auné, Eszter Balogh, Dóra K. Menyhárd, Ágnes Mikó, Christelle Arrondel
Publikováno v:
Biophysical Journal. 114:60a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::674732de60ca1859ba85cd09dead4aa8
https://doi.org/10.1016/j.bpj.2017.11.379
https://doi.org/10.1016/j.bpj.2017.11.379