Publications by authors named "Jan Miertus"

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Anencephaly in Slovakia and Czech Republic: embryogenesis, risk factors, epidemiology and preventative approaches.
Vanda Risova, Jan Miertus, Petra Otapkova, Livia Gajdosova, Vladimir Jakus

Bratisl Lek Listy· June 2024

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MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Jan Miertus

Genes (Basel)· August 2023

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PacMAGI: A pipeline including accurate indel detection for the analysis of PacBio sequencing data applied to RPE65.
Elisa Sorrentino, Elena Albion, Chiara Modena, Muharrem Daja, Stefano Cecchin, Jan Miertus

Gene· July 2022

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Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Francesca Cristofoli, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Jan Miertus

Genes (Basel)· November 2021

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Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara

Mol Genet Genomic Med· April 2021

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Genetic analysis of intellectual disability and autism.
Pietro Chiurazzi, Aysha Karim Kiani, Jan Miertus, Stefano Paolacci, Shila Barati

Acta Biomed· November 2020

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni

BMC Med Genet· September 2020

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Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias.
Ján Miertuš, Paolo Enrico Maltese, Michaela Hýblová, Erika Tomková, Darina Ďurovčíková

J Biotechnol· March 2020

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Hydroxytyrosol: A natural compound with promising pharmacological activities.
Matteo Bertelli, Aysha Karim Kiani, Stefano Paolacci, Elena Manara, Danjela Kurti, Jan Miertus

J Biotechnol· February 2020

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Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Jan Miertus

J Transl Med· October 2019

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Oguchi type I caused by a homozygous missense variation in the SAG gene.
Leonardo Colombo, Andi Abeshi, Paolo E Maltese, Vladimir Frecer, Jan Miertuš

Eur J Med Genet· September 2019

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Diagnostic and therapeutic implements based on advanced Biotechnology should be available in low-income countries.
Matteo Bertelli, Stefano Paolacci, Tommaso Beccari, Munis Dundar, Gabriella Sozanski, Stanislav Miertus, Jan Miertus

Acta Biomed· September 2019

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Syndromic infertility.
Giulia Guerri, Tiziana Maniscalchi, Shila Barati, Kristjana Dhuli, Gian Maria Busetto, Jan Miertus

Acta Biomed· September 2019

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Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Angela Robbiano, Vladimir Frecer, Jan Miertus, Cristina Zadro, Sheila Ulivi, Stanislav Miertus

J Nephrol· January 2011

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus

Am J Hum Genet· February 2008

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A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.
Jan Miertus, Wiktor Borozdin, Vladimir Frecer, Giorgio Tonini, Sara Bertok, Stanislav Miertus

Hum Genet· March 2006

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Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism.
Tomoko Murakami, Naoko Hosomi, Naoki Oiso, Maria Luisa Giovannucci-Uzielli, Robert Aquaron, Jan Miertus

J Invest Dermatol· March 2005

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Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.
Eliana Demori, Raffaella Devescovi, Daniela Gambel Benussi, Silvia Dolce, Marco Carrozzi, Jan Miertus

Am J Med Genet A· October 2004

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