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M

Milan Maçek

Charles University and Motol and Homolka University Hospital
H指数:62
被引数:2.8万

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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

Frontiers in Medicine
IF3
2026-08-310
OA
MK 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
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

European Journal of Human Genetics
IF4.6
2025-12-140
OAAI
Guido 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
Global prevalence of CFTR variants with respect to their responsiveness to elexacaftor-tezacaftor-ivacaftor

CFTR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

Journal of Cystic Fibrosis
IF6
2025-10-170
OAAI
P-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
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

Journal of Clinical Medicine 2025, Vol. 14, Page 6188
IF2.9
2025-09-040
OA
Marianna 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.
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）

PLOS ONE
IF2.6
2025-01-300
OA
Neroldova, 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
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

JOURNAL OF CYSTIC FIBROSIS
IF6
2024-05-013
PRE
Gramegna, 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.
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
FRONTIERS IN MEDICINE
IF3
2023-12-191
OAAI
Thomasova, 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
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification
FRONTIERS IN PHYSIOLOGY
IF3.4
2023-05-0922
OAAI
Bloch-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

研究方向

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C
Claude Férec
H 指数:75论文数:811被引数:2.3万
G
Garry R. Cutting
H 指数:84论文数:378被引数:2.5万
A
Alice Krebsová
H 指数:16论文数:87被引数:1,834
P
Pavel Dřevı́nek
H 指数:36论文数:200被引数:7,726
H
Harry Cuppens
H 指数:41论文数:120被引数:5,829
I
István Balogh
H 指数:30论文数:354被引数:2,941
M
Mireille Claustres
H 指数:68论文数:332被引数:1.8万
M
Martin Schwarz
H 指数:35论文数:119被引数:6,532
T
Teresa Casals
H 指数:35论文数:129被引数:5,745
T
T. Piskáčková
H 指数:9论文数:28被引数:1,001