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Items: 1 to 50 of 121

1.

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Ramaswami U, Futema M, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, Vrablik M, Freiberger T, Dieplinger H, Greber-Platzer S, Hanauer-Mader G, Bourbon M, Drogari E, Humphries SE.

Atherosclerosis. 2019 Nov 15;292:178-187. doi: 10.1016/j.atherosclerosis.2019.11.012. [Epub ahead of print]

PMID:
31809987
2.

Plasma Levels of Myocardial MicroRNA-133a Increase by Intraoperative Cytokine Hemoadsorption in the Complex Cardiovascular Operation.

Wagner R, Soucek P, Ondrasek J, Fila P, Sterba J, Spacilova H, Michalcikova A, Freiberger T, Nemec P.

J Clin Med Res. 2019 Dec;11(12):789-797. doi: 10.14740/jocmr3989. Epub 2019 Nov 24.

3.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
4.

International Society of Cardiovascular Infectious Diseases Guidelines for the Diagnosis, Treatment and Prevention of Disseminated Mycobacterium chimaera Infection Following Cardiac Surgery with Cardiopulmonary Bypass.

Hasse B, Hannan M, Keller PM, Maurer FP, Sommerstein R, Mertz D, Wagner D, Fernández-Hidalgo N, Nomura J, Manfrin V, Bettex D, Conte AH, Durante-Mangoni E, Hing-Cheung Tang T, Stuart RL, Lundgren J, Gordon S, Jarashow MC, Schreiber PW, Niemann S, Kohl TA, Daley C, Stewardson AJ, Whitener CJ, Perkins K, Plachouras D, Lamagni T, Chand M, Freiberger T, Zweifel S, Sander P, Schulthess B, Scriven J, Sax H, van Ingen J, Mestres CA, Diekema D, Brown-Elliott BA, Wallace RJ Jr, Baddour LM, Miro JM, Hoen B; M. chimaera ISCVID investigators; Infectious Diseases specialists; Hospital epidemiologists; Microbiologists and molecular typing specialists; Cardiac surgeons/ perfusionists/ cardiologists; Ophthalmology; Anaesthesiologists; Public Health.

J Hosp Infect. 2019 Nov 9. pii: S0195-6701(19)30444-X. doi: 10.1016/j.jhin.2019.10.009. [Epub ahead of print]

5.

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E.

Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019.

6.

Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype.

Fiedorová K, Radvanský M, Bosák J, Grombiříková H, Němcová E, Králíčková P, Černochová M, Kotásková I, Lexa M, Litzman J, Šmajs D, Freiberger T.

Front Immunol. 2019 Aug 13;10:1914. doi: 10.3389/fimmu.2019.01914. eCollection 2019.

7.

Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period.

Grymova T, Vlkova M, Soucek P, Hakl R, Nechvatalova J, Slanina P, Stichova J, Litzman J, Freiberger T.

Mediators Inflamm. 2019 May 19;2019:9515628. doi: 10.1155/2019/9515628. eCollection 2019.

8.

The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project.

Ceska R, Latkovskis G, Ezhov MV, Freiberger T, Lalic K, Mitchenko O, Paragh G, Petrulioniene Z, Pojskic B, Raslova K, Shek AB, Vohnout B, Altschmiedova T, Todorovova V.

Curr Atheroscler Rep. 2019 Jun 22;21(9):36. doi: 10.1007/s11883-019-0797-3. Review.

9.

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Souček P, Réblová K, Kramárek M, Radová L, Grymová T, Hujová P, Kováčová T, Lexa M, Grodecká L, Freiberger T.

RNA Biol. 2019 Oct;16(10):1364-1376. doi: 10.1080/15476286.2019.1630796. Epub 2019 Jun 19.

PMID:
31213135
10.

The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery.

Fiedorová K, Radvanský M, Němcová E, Grombiříková H, Bosák J, Černochová M, Lexa M, Šmajs D, Freiberger T.

Front Microbiol. 2019 Apr 17;10:821. doi: 10.3389/fmicb.2019.00821. eCollection 2019.

11.

Corrigendum to "association between the timing of surgery for complicated, left-sided infective endocarditis and survival", American HeartJournal 2019, volume 210, April 2019, pages 108-116.

Wang A, Chu VH, Athan E, Delahaye F, Freiberger T, Lamas C, Miro JM, Strahilevitz J, Tribouilloy C, Durante-Mangoni E, Pericas JM, Fernández-Hidalgo N, Nacinovich F, Barsic B, Giannitsioti E, Hurley JP, Hannan MM, Park LP; ICE-PLUS Investigators.

Am Heart J. 2019 Jun;212:165. doi: 10.1016/j.ahj.2019.03.006. Epub 2019 Apr 16. No abstract available.

PMID:
31003633
12.

The association between vegetation size and surgical treatment on 6-month mortality in left-sided infective endocarditis.

Fosbøl EL, Park LP, Chu VH, Athan E, Delahaye F, Freiberger T, Lamas C, Miro JM, Strahilevitz J, Tribouilloy C, Durante-Mangoni E, Pericas JM, Fernández-Hidalgo N, Nacinovich F, Rizk H, Barsic B, Giannitsioti E, Hurley JP, Hannan MM, Wang A; ICE-PLUS Investigators.

Eur Heart J. 2019 Jul 14;40(27):2243-2251. doi: 10.1093/eurheartj/ehz204.

PMID:
30977784
13.

Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples.

Kotaskova I, Obrucova H, Malisova B, Videnska P, Zwinsova B, Peroutkova T, Dvorackova M, Kumstat P, Trojan P, Ruzicka F, Hola V, Freiberger T.

Front Microbiol. 2019 Mar 20;10:462. doi: 10.3389/fmicb.2019.00462. eCollection 2019.

14.

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene.

Vaverkova H, Tichy L, Karasek D, Freiberger T.

J Clin Lipidol. 2019 May - Jun;13(3):405-410. doi: 10.1016/j.jacl.2019.02.003. Epub 2019 Feb 16.

PMID:
30876877
15.

Impact of acceptor splice site NAGTAG motif on exon recognition.

Hujová P, Grodecká L, Souček P, Freiberger T.

Mol Biol Rep. 2019 Jun;46(3):2877-2884. doi: 10.1007/s11033-019-04734-6. Epub 2019 Mar 6.

PMID:
30840204
16.

Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Candida parapsilosis Complex.

Kotásková I, Obručova H, Lýčková V, Růžička F, Freiberger T.

J Clin Microbiol. 2019 Apr 26;57(5). pii: e00135-19. doi: 10.1128/JCM.00135-19. Print 2019 May. No abstract available.

17.

Association between the timing of surgery for complicated, left-sided infective endocarditis and survival.

Wang A, Chu VH, Athan E, Delahaye F, Freiberger T, Lamas C, Miro JM, Strahilevitz J, Tribouilloy C, Durante-Mangoni E, Pericas JM, Fernández-Hidalgo N, Nacinovich F, Barsic B, Giannitsioti E, Hurley JP, Hannan MM, Park LP; ICE-PLUS Investigators.

Am Heart J. 2019 Apr;210:108-116. doi: 10.1016/j.ahj.2019.01.004. Epub 2019 Jan 17. Erratum in: Am Heart J. 2019 Jun;212:165.

PMID:
30802708
18.

A summary of the EAS consensus concerning the causal relationship between low-density lipoproteins and atherosclerotic cardiovascular diseases, prepared by the Board of the Czech Society for Atherosclerosis.

Soška V, Karásek D, Bláha V, Cífková R, Freiberger T, Kraml P, Piťha J, Rosolová H, Štulc T, Urbanová Z, Vrablík M.

Vnitr Lek. Winter 2019;64(12):1124-1128.

PMID:
30704245
19.

SERPING1 exon 3 splicing variants using alternative acceptor splice sites.

Grymová T, Grodecká L, Souček P, Freiberger T.

Mol Immunol. 2019 Mar;107:91-96. doi: 10.1016/j.molimm.2019.01.007. Epub 2019 Jan 24.

PMID:
30685616
20.

Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth.

Obručová H, Kotásková I, Tihelková R, Holá V, Růžička F, Freiberger T.

J Clin Microbiol. 2019 Mar 28;57(4). pii: e01861-18. doi: 10.1128/JCM.01861-18. Print 2019 Apr.

21.

Successful rituximab treatment of granulomatous/lymphocytic interstitial lung disease in common variable immunodeficiency.

Králíčková P, Kubcová Š, Kočová E, Bartoš V, Souček O, Rozsíval P, Vaníček H, Krčmová I, Ravčuková B, Grombiříková H, Freiberger T.

Epidemiol Mikrobiol Imunol. Winter 2018;67(3):142-148.

PMID:
30602282
22.

Human native endocarditis caused by Streptococcus canis-a case report.

Mališová B, Šantavý P, Lovečková Y, Hladký B, Kotásková I, Pol J, Lonský V, Němec P, Freiberger T.

APMIS. 2019 Jan;127(1):41-44. doi: 10.1111/apm.12905.

PMID:
30549135
23.

Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders.

Vlkova M, Chovancova Z, Nechvatalova J, Connelly AN, Davis MD, Slanina P, Travnickova L, Litzman M, Grymova T, Soucek P, Freiberger T, Litzman J, Hel Z.

J Immunol. 2019 Jan 1;202(1):93-104. doi: 10.4049/jimmunol.1800102. Epub 2018 Nov 28.

PMID:
30487174
24.

Viral genome changes and the impact of viral genome persistence in myocardium of patients with inflammatory cardiomyopathy.

Mlejnek D, Krejci J, Hude P, Ozabalova E, Zampachova V, Stepanova R, Svobodová I, Freiberger T, Nemcova E, Spinarova L.

Arch Med Sci. 2018 Oct;14(6):1245-1253. doi: 10.5114/aoms.2018.79002. Epub 2018 Oct 23.

25.

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.

Kanderova V, Grombirikova H, Zentsova I, Reblova K, Klocperk A, Fejtkova M, Bloomfield M, Ravcukova B, Kalina T, Freiberger T, Sediva A.

Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18. No abstract available.

26.

ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel.

Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.

27.

Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy.

Hakl R, Kuklínek P, Krčmová I, Králíčková P, Freiberger T, Janků P, Vlková M, Litzman J.

J Clin Immunol. 2018 Oct;38(7):810-815. doi: 10.1007/s10875-018-0553-4. Epub 2018 Oct 2.

PMID:
30280305
28.

Real-life LDL-C treatment goals achievement in patients with heterozygous familial hypercholesterolemia in the Czech Republic and Slovakia: Results of the PLANET registry.

Vrablik M, Raslová K, Vohnout B, Blaha V, Satny M, Kyselak O, Vaclova M, Urbanek R, Maskova J, Soska V, Freiberger T.

Atherosclerosis. 2018 Oct;277:355-361. doi: 10.1016/j.atherosclerosis.2018.08.008.

PMID:
30270071
29.

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M, Bruckert E, Chlebus K, Corral P, Descamps O, Durst R, Ezhov M, Fras Z, Genest J, Groselj U, Harada-Shiba M, Kayikcioglu M, Lalic K, Lam CSP, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Maher V, Majano N, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi HM, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Ž, Sadoh WE, Sahebkar A, Shehab A, Shek AB, Stoll M, Su TC, Subramaniam T, Susekov AV, Symeonides P, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjærg-Hansen A, Vázquez-Cárdenas A, Viigimaa M, Vohnout B, Widén E, Yamashita S, Banach M, Gaita D, Jiang L, Nilsson L, Santos LE, Schunkert H, Tokgözoğlu L, Car J, Catapano AL, Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators.

Atherosclerosis. 2018 Oct;277:234-255. doi: 10.1016/j.atherosclerosis.2018.08.051.

30.

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ; Convened by the Familial Hypercholesterolemia Foundation.

J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044. Review.

31.

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B.

J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4.

32.

[MedPed - the reality of familial hypercholesterolemia care at the biggest center].

Vaclová M, Freiberger T, Schwarzová L, Tichý L, Vrablík M, Češka R.

Vnitr Lek. Winter 2018;64(1):38-42. Review. Czech.

PMID:
29498874
33.

Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis.

Kotásková I, Mališová B, Obručová H, Holá V, Peroutková T, Růžička F, Freiberger T.

J Mol Microbiol Biotechnol. 2017;27(6):350-355. doi: 10.1159/000484524. Epub 2017 Dec 20.

PMID:
29258075
34.

[PCR diagnosis of infectious diseases].

Freiberger T.

Vnitr Lek. Fall 2017;63(7-8):472-474. Czech.

PMID:
28933170
35.

First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report.

Kotaskova I, Nemec P, Vanerkova M, Malisova B, Tejkalova R, Orban M, Zampachova V, Freiberger T.

BMC Infect Dis. 2017 Aug 14;17(1):563. doi: 10.1186/s12879-017-2654-8.

36.

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Grodecká L, Buratti E, Freiberger T.

Int J Mol Sci. 2017 Jul 31;18(8). pii: E1668. doi: 10.3390/ijms18081668. Review.

37.

ScreenPro FH: from the Czech MedPed to international collaboration. ScreenPro FH is a participating project of the EAS-FHCS.

Ceska R, Freiberger T, Vaclova M, Aleksicova T, Votavova L, Vrablik M.

Physiol Res. 2017 Apr 5;66(Supplementum 1):S85-S90. Review.

38.

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.

Tichý L, Fajkusová L, Zapletalová P, Schwarzová L, Vrablík M, Freiberger T.

Physiol Res. 2017 Apr 5;66(Supplementum 1):S47-S54. Review.

39.

Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project.

Vrablík M, Vaclová M, Tichý L, Soška V, Bláha V, Fajkusová L, Češka R, Šatný M, Freiberger T.

Physiol Res. 2017 Apr 5;66(Supplementum 1):S1-S9. Review.

40.

Biofilm formation, antibiotic susceptibility and RAPD genotypes in Pseudomonas aeruginosa clinical strains isolated from single centre intensive care unit patients.

Vaněrková M, Mališová B, Kotásková I, Holá V, Růžička F, Freiberger T.

Folia Microbiol (Praha). 2017 Nov;62(6):531-538. doi: 10.1007/s12223-017-0526-7. Epub 2017 Apr 1.

PMID:
28365878
41.

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Grodecká L, Hujová P, Kramárek M, Kršjaková T, Kováčová T, Vondrášková K, Ravčuková B, Hrnčířová K, Souček P, Freiberger T.

Clin Immunol. 2017 Jul;180:33-44. doi: 10.1016/j.clim.2017.03.010. Epub 2017 Mar 27.

PMID:
28359783
42.

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design.

Češka R, Paragh G, Reiner Ž, Banach M, Tokgözoğlu L, Susekov AV, Rašlová K, Freiberger T, Vohnout B, Rynkiewicz A, Goudev A, Dan GA, Gaiţă D, Pojskić B, Pećin I, Kayıkçıoğlu M, Mitchenko O, Ezhov MV, Latkovskis G, Petrulionienė Ž, Fras Z, Tasić N, Mirrakhimov EM, Murataliev T, Shek AB, Tuka V, Tselepis AD, Moubarak EM, Rasadi KA.

Vnitr Lek. Winter 2017;63(1):43-48.

PMID:
28225290
43.

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology.

Češka R, Freiberger T, Susekov AV, Paragh G, Reiner Ž, Tokgözoğlu L, Rašlová K, Banach M, Vohnout B, Rynkiewicz A, Goudev A, Dan GA, Gaiţă D, Pojskić B, Pećin I, Kayıkçıoğlu M, Mitchenko O, Ezhov MV, Latkovskis G, Petrulionienė Ž, Fras Z, Tasić N, Mirrakhimov EM, Murataliev T, Shek AB, Tuka V, Tselepis AD, Moubarak EM, Al Rasadi K.

Vnitr Lek. Winter 2017;63(1):25-30.

PMID:
28225288
44.

[Familial hypercholesterolemia in the Czech Republic in 2016].

Freiberger T, Vaclová M, Tichý L, Soška V, Bláha V, Fajkusová L, Češka R, Vrablík M.

Vnitr Lek. Fall 2016;62(11):924-928. Czech.

PMID:
28128581
45.

[Severe familial hypercholesterolemia treatment].

Vrablík M, Freiberger T, Bláha V, Češka R.

Vnitr Lek. Fall 2016;62(11):895-901. Czech.

PMID:
28128576
46.

[Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].

Češka R, Štulc T, Votavová L, Schwarzová L, Vaclová M, Freiberger T.

Vnitr Lek. Fall 2016;62(11):887-894. Czech.

PMID:
28128575
47.

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.

EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Ž, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widén E, Yamashita S, Catapano AL, Ray KK.

Atheroscler Suppl. 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001. Epub 2016 Dec 7.

48.

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Grodecká L, Kováčová T, Kramárek M, Seneca S, Stouffs K, De Laet C, Majer F, Kršjaková T, Hujová P, Hrnčířová K, Souček P, Lissens W, Buratti E, Freiberger T.

J Mol Med (Berl). 2017 Mar;95(3):299-309. doi: 10.1007/s00109-016-1484-2. Epub 2016 Nov 12.

PMID:
27837218
49.

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

Bronson PG, Chang D, Bhangale T, Seldin MF, Ortmann W, Ferreira RC, Urcelay E, Pereira LF, Martin J, Plebani A, Lougaris V, Friman V, Freiberger T, Litzman J, Thon V, Pan-Hammarström Q, Hammarström L, Graham RR, Behrens TW.

Nat Genet. 2016 Nov;48(11):1425-1429. doi: 10.1038/ng.3675. Epub 2016 Oct 10.

50.

[PCSK9 inhibitors - new possibilities in the treatment of hypercholesterolemia: For which patients will be indicated?Czech atherosclerosis society statement].

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PMID:
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