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M

Milan Maçek

Charles University and Motol and Homolka University Hospital

62H指数
419论文数
2.9W被引数
收录论文 104
发表时间
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Clinical benefit without sweat chloride response after ETI therapy in an adult with cystic fibrosis bearing the L467F;F508del complex CFTR allele: a case report and the role of AI-assisted chest CT in longitudinal monitoring囊性纤维化患者携带L467F;F508del复合CFTR等位基因，接受ETI疗法后无汗氯反应的临床获益：病例报告及AI辅助胸部CT在纵向监测中的作用
errFrontiers in Medicine
IF3
err2026-08-31
err0
errOAAI
errMK Marcela Kreslova †; DC Daan Caudri; IS Isabelle Sermet-Gaudelus; AH Aurelie Hatton; PM Punitkumar Makani; VK Vaclav Koucky; ML Malgorzata Libik; HH Hana Hrdinova; LF Libor Fila; NS Nela Stastna; EF Eva Furstova; RB Radka Bittenglova; JB Jan Baxa; JS Josef Sykora; MM Milan Macek
err分享
err收藏
Impact of adpkd-associated PKD1 gene variants on the human facial phenotype quantified by 3d geometric morphometryADPKD相关PKD1基因变异对人面部表型的影响，通过三维几何形态测量法进行量化
errScientific Reports
IF3.9
err2026-08-13
err0
errOAAI
errMichaela Mihulová; Veronika Moslerová; Martin Schwarz; Júlia Martinková; Karolina Kočandrlová; Marek Turnovec; Milan Macek; Markéta Havlovicová; Dana Thomasová
err分享
err收藏
Investigation of HE4 expression concerning epithelial-mesenchymal transition (EMT) in cystic fibrosis epithelial cells关于囊性纤维化上皮细胞中HE4表达与上皮-间质转化（EMT）关系的研究
errJournal of Cystic Fibrosis
IF6
err2026-04-05
err0
errOAAI
errMarianna Pócsi; György Jázon Balla; Ferenc Fenyvesi; Ágnes Rusznyák; Zsolt Fejes; István Balogh; Milan Macek; Margarida D. Amaral; Béla Nagy
err分享
err收藏
Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts
errGenes
IF2.8
err2026-01-31
err0
errOAAI
errEszter Kovács; Zsuzsanna Szűcs; Miroslav Horňák; David Kubíček; Kateřina Weisová; Kateřina Veselá; Lenka Krůzová; Jan Geryk; Jan Diblík; Martina Bittóová; Milan Macek, Jr.; István Balogh; Katalin Koczok
err分享
err收藏
Cascade counselling and testing. Recommendations of the European Society of Human Genetics级联咨询与检测。欧洲人类遗传学会建议
errEuropean Journal of Human Genetics
IF4.6
err2025-12-14
err0
errOAAI
errGuido de Wert; Carla G. van El; Angus Clarke; Christophe Cordier; Florence Fellmann; Maurizio Genuardi; Sabine Hentze; Hülya Kayserili; Milan Macek; Rhona MacLeod; Béla Melegh; Álvaro Mendes; Emmanuelle Rial-Sebbag; Vigdís Stefánsdóttir; Lisbeth Tranebjærg; Fiona Ulph; Francesca Forzano
err分享
err收藏
Memorandum of Understanding
errCOR ET VASA
IF0.9
err2025-11-01
err0
errOAAI
errMacek Jr, Milan; Taborsky, Milos; Ostadal, Petr; Linhart, Ales; Krebsova, Alice
err分享
err收藏
Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches影响儿童和青少年口面部区域的罕见疾病: 利用基于AI的无创治疗方法计划
errJOURNAL OF CRANIOFACIAL SURGERY
IF1
err2025-11-01
err0
PREAI
errDostalova, Tatjana; Hana, Eliasova; Havlovicova, Marketa; Kocandrlova, Karolina; Macek, Milan; Nocar, Adam; Hlinakova, Petra
err分享
err收藏
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftorCFTR变异体对伊莱克萨福特-替扎卡福特-伊卡福特的全球流行率
errJournal of Cystic Fibrosis
IF6
err2025-10-17
err0
errOAAI
errP-R Burgel; A. Orenti; E. Cromwell; M. Macek; H.H. Gutierrez; B. Karadag; A. Faro; J.G. van Rens; L. Naehrlich; E. Bakkeheim; S.B. Carr; A. Lindblad; A. Zolin; E. Lammertyn; R. Ruseckaite; M. Zampoli; C.A. Byrnes; LVRF da Silva-Filho; A. Elbert; S.Y. Cheng; A.L. Stephenson
err分享
err收藏
Comparison of the Effect of CFTR Modulators elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via Serum Human Epididymis Protein 4 Concentration in p.Phe508del-CFTR Homozygous Cystic Fibrosis Patients通过血清人附睾蛋白4浓度比较elexacaftor/tezacaftor/ivacaftor和lumacaftor/ivacaftor对p.Phe508del-CFTR纯合子囊性纤维化患者的影响
errJournal of Clinical Medicine 2025, Vol. 14, Page 6188
IF2.9
err2025-09-04
err0
errOAAI
errMarianna Pócsi; Libor Fila; Csaba Péterfia; Adrien Halász; Tibor G. Szanto; Beáta Mészáros; Judit Major; István Laki; Hajnalka Szabó; György Panyi; István Balogh; Margarida D. Amaral; Milan Macek Jr.; Béla Nagy Jr.
err分享
err收藏
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants基于FLNA基因变异的两家系耳腭指综合征谱系障碍表型分析
errClinical Genetics
IF2.3
err2025-08-30
err0
PREAI
errMartin Schwarz; Miroslav Fišer; Lenka Šodková; Eva Míšová; Martin Drahanský; Tomáš Vokálek; Renata Michalovská; Adéla Matějková; Jaroslava Jindrová; Šárka Bendová; Milan Macek Jr.
err分享
err收藏
Novel four-exon deletion in ryanodine receptor gene (RYR2) associated with mixed electric and structural cardiac phenotype
errEuropace
IF7.4
err2025-08-26
err0
errOAAI
errT Stribna; P Peldova; T Vosecka; T Roubicek; M Kubanek; R Cihak; P Peichl; J Kautzner; M Macek; A Krebsova
err分享
err收藏
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease ( vol 18 , e0288907 , 2023)外显子测序揭示非综合征性胆汁淤积性肝病患者的IFT172变异（vol 18, e0288907, 2023）
errPLOS ONE
IF2.6
err2025-01-30
err0
errOAAI
errNeroldova, Magdalena; Ciara, Elzbieta; Slatinska, Janka; Frankova, Sona; Liskova, Petra; Kotalova, Radana; Globinovska, Janka; Safarikova, Marketa; Pfeiferova, Lucie; Zunova, Hana; Mrazova, Lenka; Stranecky, Viktor; Vrbacka, Alena; Fabian, Ondrej; Sticova, Eva; Skanderova, Daniela; Sperl, Jan; Kalousova, Marta; Zima, Tomas; Macek, Milan; Pawlowska, Joanna; Knisely, A. S.; Kmoch, Stanislav; Jirsa, Milan
err分享
err收藏
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy
errJOURNAL OF THE AMERICAN HEART ASSOCIATION
IF5.3
err2024-05-21
err6
errOAAI
errBonaventura, Jiri; Rowin, Ethan J.; Chan, Raymond H.; Chin, Michael T.; Puchnerova, Veronika; Polakova, Eva; Macek, Milan; Votypka, Pavel; Batorsky, Rebecca; Perera, Gayani; Koethe, Benjamin; Veselka, Josef; Maron, Barry J.; Maron, Martin S.
err分享
err收藏
Standards for the care of people with cystic fibrosis (CF); Planning for a longer life囊性纤维化 (CF) 患者的护理标准; 规划更长的寿命
errJOURNAL OF CYSTIC FIBROSIS
IF6
err2024-05-01
err3
PREAI
errGramegna, Andrea; Addy, Charlotte; Allen, Lorna; Bakkeheim, Egil; Brown, Catherine; Daniels, Thomas; Davies, Gwyneth; Davies, Jane C.; De Marie, Ken; Downey, Damian; Felton, Imogen; Hafkemeyer, Sylvia; Hamouda, Samia; Kendall, Victoria; Lindberg, Ulrika; Macek, Milan; Mayell, Sarah; Pearlsman, Oren; Schechter, Michael S.; Salvatori, Lidia; Sands, Dorota; Schwarz, Carsten; Shteinberg, Michal; Taylor, Julia; Taylor-Cousar, Jennifer L.; Taylor-Robinson, David; Watkins, Bethan; Verkleij, Marieke; Bevan, Amanda; Castellani, Carlo; Drevinek, Pavel; Gartner, Silvia; Lammertyn, Elise; Landau, Eddie (Edwina) C.; Middleton, Peter G.; Plant, Barry J.; Smyth, Alan R.; van Koningsbruggen-Rietschel, Silke; Burgel, Pierre-Regis; Southern, Kevin W.
err分享
err收藏
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder
errSCIENTIFIC REPORTS
IF3.9
err2024-04-30
err3
errOAAI
errSchwarz, Martin; Geryk, Jan; Havlovicova, Marketa; Mihulova, Michaela; Turnovec, Marek; Ryba, Lukas; Martinkova, Julia; Macek Jr, Milan; Palmer, Richard; Kocandrlova, Karolina; Veleminska, Jana; Moslerova, Veronika
err分享
err收藏
Precision medicine in cystic fibrosis: predictive role of forskolin-induced swelling assay
errEUROPEAN RESPIRATORY JOURNAL
IF21
err2024-03-14
err0
PREAI
errFurstova, Eva; Drevinek, Pavel; Novotna, Stepanka; Libik, Malgorzata; Benesova, Klara; Borek-Dohalska, Lucie; Sakmarova, Kristina; Modrak, Martin; Macek Jr, Milan; Dousova, Tereza
err分享
err收藏
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
errFRONTIERS IN MEDICINE
IF3
err2023-12-19
err1
errOAAI
errThomasova, Dana; Zelinova, Michaela; Libik, Malgorzata; Geryk, Jan; Votypka, Pavel; Bloudickova, Silvie Rajnochova; Krejci, Karel; Reiterova, Jana; Jancova, Eva; Machova, Jana; Kollarova, Martina; Rychik, Ivan; Havrda, Martin; Horackova, Miroslava; Putzova, Martina; Safranek, Roman; Kollar, Marek; Macek Jr, Milan
err分享
err收藏
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
errJOURNAL OF CYSTIC FIBROSIS
IF6
err2023-11-01
err1
errOAAI
errPocsi, Marianna; Fejes, Zsolt; Bene, Zsolt; Nagy, Attila; Balogh, Istvan; Amaral, Margarida D.; Macek Jr, Milan; Nagy Jr, Bela
err分享
err收藏
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification
errFRONTIERS IN PHYSIOLOGY
IF3.4
err2023-05-09
err22
errOAAI
errBloch-Zupan, Agnes; Rey, Tristan; Jimenez-Armijo, Alexandra; Kawczynski, Marzena; Kharouf, Naji; de La Dure-Molla, Muriel; Noirrit, Emmanuelle; Hernandez, Magali; Joseph-Beaudin, Clara; Lopez, Serena; Tardieu, Corinne; Thivichon-Prince, Beatrice; Dostalova, Tatjana; Macek Jr, Milan; El Alloussi, Mustapha; Qebibo, Leila; Morkmued, Supawich; Pungchanchaikul, Patimaporn; Orellana, Blanca Urzua; Maniere, Marie-Cecile; Gerard, Benedicte; Bugueno, Isaac Maximiliano; Laugel-Haushalter, Virginie
err分享
err收藏
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
errHUMAN MUTATION
IF3.7
err2022-07-16
err3
errOAAI
errBento, Jotte Rodrigues; Krebsova, Alice; Van Gucht, Ilse; Callejon, Irene Valdivia; Van Berendoncks, An; Votypka, Pavel; Luyckx, Ilse; Peldova, Petra; Laga, Steven; Havelka, Marek; Van Laer, Lut; Trunecka, Pavel; Boeckx, Nele; Verstraeten, Aline; Macek, Milan; Meester, Josephina A. N.; Loeys, Bart
err分享
err收藏

研究方向

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合作学者
合作期刊
G
Gonçalo R. Abecasis
H 指数: 204 · 论文数: 846
A
Albert Hofman
H 指数: 195 · 论文数: 1.4K
C
Christian Gieger
H 指数: 175 · 论文数: 942
B
Barry J. Maron
H 指数: 172 · 论文数: 1.1K
T
Thomas Meitinger
H 指数: 168 · 论文数: 957
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