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Results: 1 to 20 of 92

1.

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.

Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium, Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium.

Am J Hum Genet. 2014 Nov 6;95(5):535-52. doi: 10.1016/j.ajhg.2014.10.004. Epub 2014 Nov 6.

PMID:
25439723
2.
3.

Biological insights from 108 schizophrenia-associated genetic loci.

Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/nature13595. Epub 2014 Jul 22.

4.

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG, ESHRE and EuroGentest2.

Hum Reprod. 2014 Aug;29(8):1603-9. doi: 10.1093/humrep/deu130. Epub 2014 Jul 8.

PMID:
25006203
5.

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG; ESHRE; EuroGentest2.

Eur J Hum Genet. 2013 Nov;21 Suppl 2:S1-21. doi: 10.1038/ejhg.2013.219.

6.

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Witt H, Beer S, Rosendahl J, Chen JM, Chandak GR, Masamune A, Bence M, Szmola R, Oracz G, Macek M Jr, Bhatia E, Steigenberger S, Lasher D, Bühler F, Delaporte C, Tebbing J, Ludwig M, Pilsak C, Saum K, Bugert P, Masson E, Paliwal S, Bhaskar S, Sobczynska-Tomaszewska A, Bak D, Balascak I, Choudhuri G, Nageshwar Reddy D, Rao GV, Thomas V, Kume K, Nakano E, Kakuta Y, Shimosegawa T, Durko L, Szabó A, Schnúr A, Hegyi P, Rakonczay Z Jr, Pfützer R, Schneider A, Groneberg DA, Braun M, Schmidt H, Witt U, Friess H, Algül H, Landt O, Schuelke M, Krüger R, Wiedenmann B, Schmidt F, Zimmer KP, Kovacs P, Stumvoll M, Blüher M, Müller T, Janecke A, Teich N, Grützmann R, Schulz HU, Mössner J, Keim V, Löhr M, Férec C, Sahin-Tóth M.

Nat Genet. 2013 Oct;45(10):1216-20. doi: 10.1038/ng.2730. Epub 2013 Aug 18.

7.

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.

Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF.

J Cyst Fibros. 2014 Jan;13(1):15-23. doi: 10.1016/j.jcf.2013.06.003. Epub 2013 Jul 25.

PMID:
23891278
8.

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

Křenková P, Piskáčková T, Holubová A, Balaščaková M, Krulišová V, Čamajová J, Turnovec M, Libik M, Norambuena P, Štambergová A, Dvořáková L, Skalická V, Bartošová J, Kučerová T, Fila L, Zemková D, Vávrová V, Koudová M, Macek M, Krebsová A, Macek M Jr.

J Cyst Fibros. 2013 Sep;12(5):532-7. doi: 10.1016/j.jcf.2012.12.002. Epub 2012 Dec 29.

PMID:
23276700
9.

Reconstructing the population history of European Romani from genome-wide data.

Mendizabal I, Lao O, Marigorta UM, Wollstein A, Gusmão L, Ferak V, Ioana M, Jordanova A, Kaneva R, Kouvatsi A, Kučinskas V, Makukh H, Metspalu A, Netea MG, de Pablo R, Pamjav H, Radojkovic D, Rolleston SJ, Sertic J, Macek M Jr, Comas D, Kayser M.

Curr Biol. 2012 Dec 18;22(24):2342-9. doi: 10.1016/j.cub.2012.10.039. Epub 2012 Dec 6.

10.

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.

Krulišová V, Balaščaková M, Skalická V, Piskáčková T, Holubová A, Paděrová J, Křenková P, Dvořáková L, Zemková D, Kračmar P, Chovancová B, Vávrová V, Stambergová A, Votava F, Macek M Jr.

Eur J Pediatr. 2012 Aug;171(8):1223-9. doi: 10.1007/s00431-012-1747-z. Epub 2012 May 12.

PMID:
22581207
11.

Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine.

Mitropoulos K, Innocenti F, van Schaik RH, Lezhava A, Tzimas G, Kollia P, Macek M Jr, Fortina P, Patrinos GP.

Pharmacogenomics. 2012 Mar;13(4):387-92. doi: 10.2217/pgs.12.7.

12.

Recommendations for the classification of diseases as CFTR-related disorders.

Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C.

J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3.

13.

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K.

Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Erratum in: Hum Mutat. 2012 Feb;33(2):456. Lühr, Matthias [corrected to Löhr, Matthias].

PMID:
21520337
14.

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, Dvořáková L, Gombos E, Kappelmayer J, Macek M Jr, Balogh I.

J Cyst Fibros. 2011 May;10(3):217-20. doi: 10.1016/j.jcf.2010.12.009. Epub 2011 Feb 4.

15.

Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries.

Mehta G, Macek M Jr, Mehta A; European Registry Working Group.

J Cyst Fibros. 2010 Dec;9 Suppl 2:S5-S21. doi: 10.1016/j.jcf.2010.08.002. Epub 2010 Nov 1.

16.

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.

Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, Fernandez L, Macek M Jr, Radojkovic D, Ballmann M, Greipel J, Cassiman JJ, Wienker TF, Tümmler B.

J Med Genet. 2011 Jan;48(1):24-31. doi: 10.1136/jmg.2010.080937. Epub 2010 Sep 12.

17.

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

Makukh H, Krenková P, Tyrkus M, Bober L, Hancárová M, Hnateyko O, Macek M Jr.

J Cyst Fibros. 2010 Sep;9(5):371-5. doi: 10.1016/j.jcf.2010.06.001. Epub 2010 Jul 24.

18.

Benchmarks for cystic fibrosis carrier screening: a European consensus document.

Castellani C, Macek M Jr, Cassiman JJ, Duff A, Massie J, ten Kate LP, Barton D, Cutting G, Dallapiccola B, Dequeker E, Girodon E, Grody W, Highsmith EW, Kääriäinen H, Kruip S, Morris M, Pignatti PF, Pypops U, Schwarz M, Soller M, Stuhrman M, Cuppens H.

J Cyst Fibros. 2010 May;9(3):165-78. doi: 10.1016/j.jcf.2010.02.005. Epub 2010 Apr 2.

19.

Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis.

McCormick J, Mehta G, Olesen HV, Viviani L, Macek M Jr, Mehta A; European Registry Working Group.

Lancet. 2010 Mar 20;375(9719):1007-13. doi: 10.1016/S0140-6736(09)62161-9.

PMID:
20304245
20.

Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene.

Krenková P, Norambuena P, Stambergová A, Macek M Jr.

Folia Biol (Praha). 2009;55(6):238-42.

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