Publications by authors named "Milan Macek"

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Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches.
Tatjana Dostalova, Eliášová Hana, Markéta Havlovicová, Karolína Kočandrlová, Milan Macek

J Craniofac Surg· December 2025

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Cascade counselling and testing. Recommendations of the European Society of Human Genetics.
Guido de Wert, Carla G van El, Angus Clarke, Christophe Cordier, Florence Fellmann, Milan Macek

Eur J Hum Genet· December 2025

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Intragenic Deletions in a Single Family with Dilated Cardiomyopathy.
Marketa Wayhelova, Petra Peldova, Alice Krebsova, Michaela Nemcikova, Matej Sojka, Milan Macek

Appl Clin Genet· October 2025

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Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype.
Tereza Stribna, Petra Peldova, Tatiana Vosecka, Tomas Roubicek, Milos Kubanek, Milan Macek

Europace· September 2025

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Comparison of the Effect of CFTR Modulators // and / via Serum Human Epididymis Protein 4 Concentration in Homozygous Cystic Fibrosis Patients.
Marianna Pócsi, Libor Fila, Csaba Péterfia, Adrien Halász, Tibor G Szanto, Milan Macek

J Clin Med· September 2025

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Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Martin Schwarz, Miroslav Fišer, Lenka Šodková, Eva Míšová, Martin Drahanský, Milan Macek

Clin Genet· August 2025

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The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.
Martina Sterclova, Martina Doubkova, Michael Doubek, Milan Macek

Breathe (Sheff)· July 2025

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Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched gene variants of uncertain significance.
Ivan Rychlík, Lidmila Francová, Gabriela Dostálová, Marie Pešková, Satu Pešičková, Milan Macek

Clin Kidney J· June 2025

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Milan Macek

Genet Med· April 2025

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Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Milan Macek

PLoS One· January 2025

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Using three-dimensional geometric morphometry for facial analysis in patients with the oculo-auriculo-vertebral spectrum.
Petra Poláčková, Jiří Borovec, Jana Vašáková, Matěj Patzelt, Wanda Urbanová, Milan Macek

Orthod Craniofac Res· December 2024

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Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population.
Tatjana Dostalova, Marketa Havlovicova, Silvia Timkova, Diana Filipova, Hana Eliasova, Milan Macek

Bratisl Lek Listy· December 2024

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Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.
Martin Schwarz, Aleš Vícha, Katarína Kuťková, Lenka Krsková, Šárka Bendová, Milan Macek

Acta Dermatovenerol Croat· December 2024

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Gene therapy - once just a dream, now a reality.
Radim Brdička, Milan Macek, Karolina Veberová Brdičková

Cas Lek Cesk· July 2024

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Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Osama A Karim Majed, Fatema Osama Majed, Nabeel Jasim Almoamen, Husain Baqer Alsatrawi, Salma Dawood Shehabi, Milan Macek

Mol Genet Genomics· May 2024

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Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Jiri Bonaventura, Ethan J Rowin, Raymond H Chan, Michael T Chin, Veronika Puchnerova, Milan Macek

J Am Heart Assoc· May 2024

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Standards for the care of people with cystic fibrosis (CF); Planning for a longer life.
Andrea Gramegna, Charlotte Addy, Lorna Allen, Egil Bakkeheim, Catherine Brown, Milan Macek

J Cyst Fibros· May 2024

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Precision medicine in cystic fibrosis: predictive role of forskolin-induced swelling assay.
Eva Furstova, Pavel Drevinek, Stepanka Novotna, Malgorzata Libik, Klara Benesova, Milan Macek

Eur Respir J· April 2024

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Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.
Martin Schwarz, Jan Geryk, Markéta Havlovicová, Michaela Mihulová, Marek Turnovec, Milan Macek

Sci Rep· April 2024

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Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.
Martin Schwarz, Matej Gazdarica, Eva Froňková, Michael Svatoň, Jiří Bronský, Milan Macek

Mol Biol Rep· March 2024

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The most common founder pathogenic variant c.868G > A (p.Val290Met) in the gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Milan Macek

Front Med (Lausanne)· December 2023

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Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination.
Marianna Pócsi, Zsolt Fejes, Zsolt Bene, Attila Nagy, István Balogh, Milan Macek

J Cyst Fibros· November 2023

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Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study.
Pavel Votýpka, Alice Krebsová, Patricia Norambuena-Poustková, Petra Peldová, Štěpánka Pohlová Kučerová, Milan Macek

Int J Legal Med· November 2023

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Milan Macek

PLoS One· July 2023

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: Next-generation sequencing sheds light on Witkop's classification.
Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Milan Macek

Front Physiol· May 2023

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