Milan Macek

Milan Macek

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Milan Macek

Publications by authors named "Milan Macek"

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Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Mol Genet Genomic Med 2019 Aug 27;7(8):e696. Epub 2019 Jun 27.

Department of Biology and Medical Genetics, University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/mgg3.696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687650PMC
August 2019

Rare diseases in the year 2019 - the Czech and international context.

Authors:
Milan Macek

Cas Lek Cesk 2019 ;158(1):33-37

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June 2019

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

Cent Eur J Public Health 2019 Jun;27(2):153-159

Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.

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http://dx.doi.org/10.21101/cejph.a5441DOI Listing
June 2019

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Arch Med Sci 2019 May 8;15(3):641-649. Epub 2018 Oct 8.

Department of Cardiology, 2 Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.5114/aoms.2018.78767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524174PMC
May 2019

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

Genet Med 2019 03 27;21(3):718-726. Epub 2018 Jul 27.

Department of Clinical Genetics, Section Community Genetics and Amsterdam Public Health research institute, Amsterdam UMC location VUmc, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0132-3DOI Listing
March 2019

Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV) in cystic fibrosis patients receiving ivacaftor treatment.

J Cyst Fibros 2019 Mar 27;18(2):271-277. Epub 2018 Sep 27.

Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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https://linkinghub.elsevier.com/retrieve/pii/S15691993183079
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http://dx.doi.org/10.1016/j.jcf.2018.08.013DOI Listing
March 2019

Genome-wide association study identifies inversion in the locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.

Gut 2018 10 28;67(10):1855-1863. Epub 2017 Jul 28.

Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.

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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2017-314454
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http://dx.doi.org/10.1136/gutjnl-2017-314454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145291PMC
October 2018

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

Eur J Med Genet 2018 Jun 4;61(6):315-321. Epub 2018 Jan 4.

Department of Biology and Medical Genetics, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.005DOI Listing
June 2018

From Mendel to Medical Genetics.

Eur J Hum Genet 2017 12;25(s2):S53-S59

Charles University and Motol University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1038/ejhg.2017.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763265PMC
December 2017

Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.

Autism Res 2017 Aug 24;10(8):1424-1435. Epub 2017 Mar 24.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 150 06 Prague, Czech Republic.

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http://doi.wiley.com/10.1002/aur.1780
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http://dx.doi.org/10.1002/aur.1780DOI Listing
August 2017

The Common Follicle-Stimulating Hormone Receptor (FSHR) Promoter Polymorphism FSHR -29G > A Affects Androgen Production in Normal Human Small Antral Follicles.

Front Endocrinol (Lausanne) 2017 2;8:122. Epub 2017 Jun 2.

Laboratory of Reproductive Biology, The Juliane Marie Centre for Women, Children and Reproduction, University Hospital of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fendo.2017.00122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454067PMC
June 2017

Ovarian response to 150 µg corifollitropin alfa in a GnRH-antagonist multiple-dose protocol: a prospective cohort study.

Reprod Biomed Online 2017 May 2;34(5):534-540. Epub 2017 Mar 2.

Department of Reproductive Medicine and Gynecological Endocrinology, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14726483173009
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http://dx.doi.org/10.1016/j.rbmo.2017.02.012DOI Listing
May 2017

Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study.

Eur J Health Econ 2017 Jan 7;18(1):73-82. Epub 2016 Jan 7.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, V Úvalu 84, 15006, Prague 5, Czech Republic.

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http://dx.doi.org/10.1007/s10198-015-0759-9DOI Listing
January 2017

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.

J Cyst Fibros 2016 11 22;15(6):752-758. Epub 2016 Jul 22.

Institute of Clinical Chemistry and Laboratory Medicine, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.07.002DOI Listing
November 2016

Human Epididymis Protein 4: A Novel Serum Inflammatory Biomarker in Cystic Fibrosis.

Chest 2016 09 19;150(3):661-72. Epub 2016 Apr 19.

Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Division of Clinical Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

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http://dx.doi.org/10.1016/j.chest.2016.04.006DOI Listing
September 2016

Minimum information required for a DMET experiment reporting.

Pharmacogenomics 2016 09 22;17(14):1533-45. Epub 2016 Aug 22.

Laboratory of Pharmacogenomics, Section of Neuroscience & Clinical Pharmacology, Department of Biomedical Sciences, University of Cagliari, sp 8 Sestu-Monserrato, Km 0.700, 09042 Cagliari, Italy.

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http://dx.doi.org/10.2217/pgs-2016-0015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123892PMC
September 2016

Ivacaftor in cystic fibrosis adults: Czech experience with six years of follow-up.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun 25;160(2):276-9. Epub 2016 May 25.

Cystic Fibrosis Centre, University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.5507/bp.2016.029DOI Listing
June 2016

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.

JAMA Psychiatry 2016 05;73(5):497-505

Schizophrenia Research Institute, Sydney, Australia23School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, Australia.

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http://dx.doi.org/10.1001/jamapsychiatry.2016.0129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785705PMC
May 2016

An ADP-ribosyltransferase 3 (ART3) variant is associated with reduced sperm counts in Czech males: case/control association study replicating results from the Japanese population.

Neuro Endocrinol Lett 2012 ;33(1):48-52

Department of Biology and Medical Genetics - Center for Reproductive Medicine and Genetics, Charles University 2nd Medical Faculty and University Hospital Motol, Prague, Czech Republic.

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April 2016

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Authors:
Lavinia Paternoster Marie Standl Johannes Waage Hansjörg Baurecht Melanie Hotze David P Strachan John A Curtin Klaus Bønnelykke Chao Tian Atsushi Takahashi Jorge Esparza-Gordillo Alexessander Couto Alves Jacob P Thyssen Herman T den Dekker Manuel A Ferreira Elisabeth Altmaier Patrick Ma Sleiman Feng Li Xiao Juan R Gonzalez Ingo Marenholz Birgit Kalb Maria Pino Yanes Cheng-Jian Xu Lisbeth Carstensen Maria M Groen-Blokhuis Cristina Venturini Craig E Pennell Sheila J Barton Albert M Levin Ivan Curjuric Mariona Bustamante Eskil Kreiner-Møller Gabrielle A Lockett Jonas Bacelis Supinda Bunyavanich Rachel A Myers Anja Matanovic Ashish Kumar Joyce Y Tung Tomomitsu Hirota Michiaki Kubo Wendy L McArdle A J Henderson John P Kemp Jie Zheng George Davey Smith Franz Rüschendorf Anja Bauerfeind Min Ae Lee-Kirsch Andreas Arnold Georg Homuth Carsten O Schmidt Elisabeth Mangold Sven Cichon Thomas Keil Elke Rodríguez Annette Peters Andre Franke Wolfgang Lieb Natalija Novak Regina Fölster-Holst Momoko Horikoshi Juha Pekkanen Sylvain Sebert Lise L Husemoen Niels Grarup Johan C de Jongste Fernando Rivadeneira Albert Hofman Vincent Wv Jaddoe Suzanne Gma Pasmans Niels J Elbert André G Uitterlinden Guy B Marks Philip J Thompson Melanie C Matheson Colin F Robertson Janina S Ried Jin Li Xian Bo Zuo Xiao Dong Zheng Xian Yong Yin Liang Dan Sun Maeve A McAleer Grainne M O'Regan Caoimhe Mr Fahy Linda E Campbell Milan Macek Michael Kurek Donglei Hu Celeste Eng Dirkje S Postma Bjarke Feenstra Frank Geller Jouke Jan Hottenga Christel M Middeldorp Pirro Hysi Veronique Bataille Tim Spector Carla Mt Tiesler Elisabeth Thiering Badri Pahukasahasram James J Yang Medea Imboden Scott Huntsman Natàlia Vilor-Tejedor Caroline L Relton Ronny Myhre Wenche Nystad Adnan Custovic Scott T Weiss Deborah A Meyers Cilla Söderhäll Erik Melén Carole Ober Benjamin A Raby Angela Simpson Bo Jacobsson John W Holloway Hans Bisgaard Jordi Sunyer Nicole M Probst Hensch L Keoki Williams Keith M Godfrey Carol A Wang Dorret I Boomsma Mads Melbye Gerard H Koppelman Deborah Jarvis Wh Irwin McLean Alan D Irvine Xue Jun Zhang Hakon Hakonarson Christian Gieger Esteban G Burchard Nicholas G Martin Liesbeth Duijts Allan Linneberg Marjo-Riitta Jarvelin Markus M Noethen Susanne Lau Norbert Hübner Young-Ae Lee Mayumi Tamari David A Hinds Daniel Glass Sara J Brown Joachim Heinrich David M Evans Stephan Weidinger

Nat Genet 2015 Dec 19;47(12):1449-1456. Epub 2015 Oct 19.

Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1038/ng.3424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753676PMC
December 2015

Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the disease.

Neuro Endocrinol Lett 2014 ;35(5):347-51

Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.

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March 2015

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

J Cyst Fibros 2014 Jan 25;13(1):15-23. Epub 2013 Jul 25.

Translational Lung Research Centre Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany; Division of Metabolic Diseases and Newborn Screening Center, Department of Paediatrics I, Children's Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.jcf.2013.06.003DOI Listing
January 2014

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

Nat Genet 2013 Oct 18;45(10):1216-20. Epub 2013 Aug 18.

1] Else Kröner-Fresenius-Zentrum für Ernährungsmedizin (EKFZ), Technische Universität München (TUM), Freising, Germany. [2] Zentralinstitut für Ernährungs- und Lebensmittelforschung (ZIEL), TUM, Freising, Germany. [3] Department of Pediatrics, Klinikum Rechts der Isar (MRI), TUM, Munich, Germany.

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http://dx.doi.org/10.1038/ng.2730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909499PMC
October 2013

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

Eur J Pediatr 2012 Aug 12;171(8):1223-9. Epub 2012 May 12.

Department of Biology and Medical Genetics, University Hospital Motol and the 2nd Faculty of Medicine, Charles University, V Úvalu 84, 15006 Prague 5, Czech Republic.

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http://dx.doi.org/10.1007/s00431-012-1747-zDOI Listing
August 2012

High positive predictive value of PAPP-A for acute coronary syndrome diagnosis in heparin-naïve patients.

J Thromb Thrombolysis 2012 Jul;34(1):99-105

Department of Cardiology, Charles University and University Hospital Motol, V Uvalu 84, Prague 5 150 06, Czech Republic.

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http://dx.doi.org/10.1007/s11239-012-0679-9DOI Listing
July 2012

Influence of concomitant heparin administration on pregnancy-associated plasma protein-A levels in acute coronary syndrome with ST segment elevation.

Arch Med Sci 2011 Dec 30;7(6):977-83. Epub 2011 Dec 30.

Cardiovascular Center, Department of Cardiology, Charles University and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.5114/aoms.2011.26609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264989PMC
December 2011

Association screening in the Epidermal Differentiation Complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.

J Invest Dermatol 2011 Aug 14;131(8):1644-9. Epub 2011 Apr 14.

Pediatric Pneumology and Immunology and Experimental and Clinical Research Center, Charité, Berlin, Germany.

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http://dx.doi.org/10.1038/jid.2011.90DOI Listing
August 2011

Increased sperm aneuploidy in two male carriers of germline TP53 mutations.

Cancer Genet 2011 May;204(5):278-81

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.cancergen.2011.03.003DOI Listing
May 2011

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

J Cyst Fibros 2010 Dec 1;9 Suppl 2:S5-S21. Epub 2010 Nov 1.

Division of Medical Sciences, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1016/j.jcf.2010.08.002DOI Listing
December 2010

The serotonin transporter gene (5-HTT) variant and psychiatric disorders: review of current literature.

Neuro Endocrinol Lett 2010 ;31(1):4-10

Institute of Biology and Medical Genetics, 2nd School of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.

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May 2010

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

Lancet 2010 Mar;375(9719):1007-13

Centre for Academic Clinical Practice, Division of Clinical Population Science and Education, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736096216
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http://dx.doi.org/10.1016/S0140-6736(09)62161-9DOI Listing
March 2010

Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene.

Clin Biochem 2009 Aug 8;42(12):1308-16. Epub 2009 May 8.

Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Praha, Czech Republic.

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http://dx.doi.org/10.1016/j.clinbiochem.2009.04.015DOI Listing
August 2009

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.

Eur J Hum Genet 2009 Apr 3;17(4):537-40. Epub 2008 Dec 3.

Department of Biology and Medical Genetics, Charles University Prague-2nd School of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://www.nature.com/articles/ejhg2008209
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http://dx.doi.org/10.1038/ejhg.2008.209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986222PMC
April 2009

Wilson disease as a cause of liver injury in cystic fibrosis.

J Cyst Fibros 2009 Jan 23;8(1):63-5. Epub 2008 Oct 23.

Department of Pediatrics, Charles University 2nd Medical School and Faculty Hospital Motol, V Uvalu 84, 150 06 Praha 5, Czech Republic.

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http://dx.doi.org/10.1016/j.jcf.2008.09.003DOI Listing
January 2009

Chromosome topology in normal and aneuploid blastomeres from human embryos.

Prenat Diagn 2007 Dec;27(12):1091-9

Center of Reproductive Genetics, Institute of Biology and Medical Genetics, Charles University, 2nd School of Medicine, University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1002/pd.1834DOI Listing
December 2007

Polymorphisms of TGF-beta1 in cystic fibrosis patients.

Clin Immunol 2006 Dec 18;121(3):350-7. Epub 2006 Oct 18.

Institute of Immunology, University Hospital Motol, Charles University, Prague, V Uvalu 84, 150 06 Prague 5, Czech Republic.

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http://dx.doi.org/10.1016/j.clim.2006.08.015DOI Listing
December 2006

[The peptide nucleic acids (PNAs): "high-tech" probes for genetic and molecular cytogenetic investigations].

Med Sci (Paris) 2005 Aug-Sep;21(8-9):753-8

CNRS UPR 1142, Institut de Génétique Humaine, 141 rue de la Cardonille, 34396 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1051/medsci/2005218-9753DOI Listing
December 2005

Differential cytokine profile in children with cystic fibrosis.

Clin Immunol 2005 May;115(2):210-5

Institute of Immunology, University Hospital Motol, Prague, Czech Republic.

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http://linkinghub.elsevier.com/retrieve/pii/S152166160500037
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http://dx.doi.org/10.1016/j.clim.2005.01.013DOI Listing
May 2005

Topology of chromosomes 18 and X in human blastomeres from 3- to 4-day-old embryos.

J Histochem Cytochem 2005 Mar;53(3):273-6

Institute of Biology and Medical Genetics, University Hospital Motol, V Uvalu 84, Prague 5 CZ-150 06, Czech Republic.

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http://dx.doi.org/10.1369/jhc.4B6509.2005DOI Listing
March 2005

QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe.

J Histochem Cytochem 2005 Mar;53(3):371-3

University Hospital Motol, Institute of Biology and Medical Genetics, Laboratory of Assisted Reproduction and Reproductive Genetics, V Uvalu 84, Prague-5, 150 06, Czech Republic.

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http://dx.doi.org/10.1369/jhc.4B6510.2005DOI Listing
March 2005

The use of peptide nucleic acids for in situ identification of human chromosomes.

J Histochem Cytochem 2005 Mar;53(3):395-400

CNRS UPR 1142, Institute of Human Genetics, 141 rue de la Cardonille, F-34396 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1369/jhc.4R6399.2005DOI Listing
March 2005

Recurrent and destructive nasal polyposis in 2 siblings: a possible case of Woakes' syndrome.

Otolaryngol Head Neck Surg 2004 Dec;131(6):1009-11

McKusick-Nathans Institute of Genetic Medicine and Cystic Fibrosis Foundation Genotyping Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1016/j.otohns.2004.02.031DOI Listing
December 2004

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Hum Mutat 2002 Jun;19(6):575-606

Department of Pediatrics, University of Wisconsin, Madison, Wisconsin, USA.

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http://doi.wiley.com/10.1002/humu.10041
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http://dx.doi.org/10.1002/humu.10041DOI Listing
June 2002

Association of human aging with a functional variant of klotho.

Proc Natl Acad Sci U S A 2002 Jan 15;99(2):856-61. Epub 2002 Jan 15.

Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1073/pnas.022484299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC117395PMC
January 2002