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1

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

Bernhard Steiner, Jonas Rosendahl, Heiko Witt, Niels Teich, Volker Keim, Hans-Ulrich Schulz, Roland Pfützer, Matthias Lühr, Thomas M. Gress, Renate Nickel, Olfert Landt, Monika Koudova, Milan Macek Jr

Journal:

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

2

Upstream velocity profile effects on orifice flowmeters

G.L. Morrison, K.R. Hall, M.L. Macek, L.M. Ihfe, R.E. DeOtte Jr, J.E. Hauglie

Journal:

Flow Measurement and Instrumentation

Year:

1994

Language:

english

File:

PDF, 568 KB

english, 1994

3

Comparison of orifice and slotted plate flowmeters

G.L. Morrison, K.R. Hall, J.C. Holste, M.L. Macek, L.M. Ihfe, R.E. DeOtte Jr., D.P. Terracina

Journal:

Flow Measurement and Instrumentation

Year:

1994

Language:

english

File:

PDF, 546 KB

english, 1994

4

Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

Anil Mehta, Jonathan McCormick, Milan Macek Jr

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 144 KB

english, 2010

5

Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for ∼94% of CF chromosomes

David J. Hughes, Alison J.M. Hill, Milan Macek Jr., Aileen O. Redmond, Norman C. Nevin, Colin A. Graham

Journal:

Year:

1996

Language:

english

File:

PDF, 734 KB

english, 1996

6

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene

Milan Macek Jr., Bernard Mercier, Alice Macková, Patrice Weiner Miller, Ada Hamosh, Claude Férec, Garry R. Cutting

Journal:

Year:

1997

Language:

english

File:

PDF, 220 KB

english, 1997

7

Slotted orifice flowmeter

Gerald L. Morrison, Kenneth R. Hall, James C. Holste, Robert E. DeOtte Jr., Michael L. Macek, Larry M. Ihfe

Journal:

Year:

1994

Language:

english

File:

PDF, 398 KB

english, 1994

8

Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

Joseph L. Bobadilla, Milan Macek Jr, Jason P. Fine, Philip M. Farrell

Journal:

Year:

2002

Language:

english

File:

PDF, 1.55 MB

english, 2002

9

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

Milan Macek Jr., Ada Hamosh, Sandra Kiesewetter, Iain McIntosh, Beryl J. Rosenstein, Garry R. Cutting

Journal:

Year:

1992

Language:

english

File:

PDF, 152 KB

english, 1992

10

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation

Raymonda Varon, Manfred Stuhrmann, Milan Macek Jr., Annie Kufardjieva, Dora Angelicheva, Klaus Magdorf, Albena Jordanova, Alexey Savov, Ulrich Wahn, Milan Macek, Vesselin Lalov, Tanya Ivanova, Helmut

Journal:

Year:

1995

Language:

english

File:

PDF, 644 KB

english, 1995

11

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

Sylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, Caroline Bénech, Teresa Casals, Milan Macek Jr., Thierry Bienvenu, Trudi McDevitt, Philip M. Farrell, Ourida Loumi, Taieb Messaoud, Harry Cuppens, Gar

Journal:

Year:

2010

Language:

english

File:

PDF, 3.67 MB

english, 2010

12

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

Bernhard Steiner, Jonas Rosendahl, Heiko Witt, Niels Teich, Volker Keim, Hans-Ulrich Schulz, Roland Pfützer, Matthias Löhr, Thomas M. Gress, Renate Nickel, Olfert Landt, Monika Koudova, Milan Macek Jr

Journal:

Year:

2012

Language:

english

File:

PDF, 85 KB

english, 2012

13

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

Patricia A. Norambuena, Joshua A. Copeland, Petra Křenková, Alexandra Štambergová, Milan Macek Jr.

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 1.81 MB

english, 2009

14

Characterization of a novel 21-kb deletion, CFTRdele2,3(21

T. Dörk, M. Macek Jr, F. Mekus, B. Tümmler, J. Tzountzouris, T. Casals, A. Krebsová, M. Koudová, I. Sakmaryová, M. Macek Sr, V. Vávrová, D. Zemková, E. Ginter, N.V. Petrova, T. Ivaschenko, V. Baranov,

Journal:

Year:

2000

Language:

english

File:

PDF, 356 KB

english, 2000

15

Possible association of the allele status of the CS.7/HhaI polymorphism 5′ of theCFTRgene with postnatal female survival

M. Macek Jr., Milan Macek Sr., Alice Krebsová, E. Nash, A. Hamosh, André Reis, Raymonda Varon-Mateeva, Jörg Schmidtke, Nancy E. Maestri, Karl Sperling, Michael Krawczak, G. R. Cutting, J. Schmidke

Journal:

Year:

1997

Language:

english

File:

PDF, 87 KB

english, 1997

16

A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts

F. Tüttelmann, P. Křenková, S. Römer, A. R. Nestorovic, M. Ljujic, A. Štambergová, M. Macek Jr, M. Macek Sr, E. Nieschlag, J. Gromoll, M. Simoni

Journal:

International Journal of Andrology

Year:

2010

Language:

english

File:

PDF, 191 KB

english, 2010

17

Polymorphisms of TGF-beta1 in cystic fibrosis patients

Jitka Brazova, Kristyna Sismova, Vera Vavrova, Jana Bartosova, Milan Macek Jr., Hynek Lauschman, Anna Sediva

Journal:

Clinical Immunology

Year:

2006

Language:

english

File:

PDF, 197 KB

english, 2006

18

The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy

Milan Macek Jr., Milan Macek, Manfred Stuhrmann, Eduard Kulovany, Marie Dolanská, František Koukolík, Ingolf Boehm, Jana Hronková, Zdeňka Ježková, Magdalena Paulová, Hana Martanová, Jiří Zach, André R

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 293 KB

english, 1991

19

Antineutrophil Cytoplasmic Autoantibodies (ANCA) in Children with Cystic Fibrosis

Anna Šedivá, Jiřina Bartůňková, Ivana Kolářová, Ondřej Hrušák, Věra Vávrová, Milan Macek jr, Christopher M-Lockwood, Austin C Dunn

Journal:

Journal of Autoimmunity

Year:

1998

Language:

english

File:

PDF, 109 KB

english, 1998

20

Differential cytokine profile in children with cystic fibrosis

Jitka Brazova, Anna Sediva, Dagmara Pospisilova, Vera Vavrova, Petr Pohunek, Milan Macek Jr., Jirina Bartunkova, Hynek Lauschmann

Journal:

Clinical Immunology

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

21

Recurrent and destructive nasal polyposis in 2 siblings: A possible case of Woakes’ Syndrome

Joshua D. Groman, William Bolger, Lois Brass-Ernst, Milan MacEk Jr, Pam Zeitlin, Garry Cutting

Journal:

Otolaryngology - Head and Neck Surgery

Year:

2004

Language:

english

File:

PDF, 113 KB

english, 2004

22

Distribution of human β-defensin polymorphisms in various control and cystic fibrosis populations

Anne Vankeerberghen, Olga Scudiero, Kris De Boeck, Milan Macek Jr., Pier Franco Pignatti, Noémi Van Hul, Hilde Nuytten, Francesco Salvatore, Giuseppe Castaldo, Daniela Zemkova, Vera Vavrova, Jean-Jacq

Journal:

Year:

2005

Language:

english

File:

PDF, 203 KB

english, 2005

23

Comparison of the clinical manifestations of cystic fibrosis in black and white patients

Ada Hamosh, Stacey C. FitzSimmons, Milan Macek Jr., Michael R. Knowles, Beryl J. Rosenstein, Garry R. Cutting

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 137 KB

english, 1998

24

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

Jonathan McCormick, Gita Mehta, Hanne V Olesen, Laura Viviani, Milan Macek Jr, Anil Mehta

Journal:

Year:

2010

Language:

english

File:

PDF, 373 KB

english, 2010

25

25. Genotype-phenotype correlations in the CFTRdel21kb mutation in the Czech population

M. Fialová, D. Zemková, A. Krebsová, V. Vávrová, I. Sakmaryová, M. Holová, T. Dörk, M. Macek, M. Macek Jr.

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 19 KB

english, 1999

26

20. A high frequency of the CFTRdel21kb mutation in the Czech population raises the total detection rate to over 95%

A. Krebsová, M. Fialová, I. Sakmaryová, M. Holová, B. Mercier, H. Cuppens, T. Dörk, V. Vávrová, M. Macek, M. Macek Jr.

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 16 KB

english, 1999

27

140. CF-related diabetis mellitus in Czech patients

S. Koloušková, D. Zemková, M. Šnajderová, M. Macek Jr., V. Vávrová

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 17 KB

english, 1999

28

Evidence for a Common Ethnic Origin of Cystic Fibrosis Mutation 3120+1G→A in Diverse Populations

Thilo Dörk, El-Harith A. El-Harith, Manfred Stuhrmann, Milan Macek Jr., Michelle Egan, Garry R. Cutting, Maria Tzetis, Emmanuel Kanavakis, Soukeyna Carles, Mireille Claustres, Carolyn Padoa, Michèle R

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 291 KB

english, 1998

29

471 Increased age at diagnosis justifies CF neonatal screening

D. Zemková, V. Skalická, T. Kučerová, J. Bartošová, A. Holubova, F. Votava, M. Macek Jr., V. Vâvrovs

Journal:

Journal of Cystic Fibrosis

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

30

470 Newborn screening for CF in the Czech Republic: results from a pilot study

A. Holubova, F. Votava, V. Skalicka, M. Balascakova, V. Vavrova, D. Zemkova, P. Kracmar, M. Libik, J. Camajova, T. Piskackova, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

31

364 Newborn screening in the Czech Republic: an effective tool for early detection of CF

D. Zemkova, V. Skalicka, M. Balascakova, V. Vavrova, P. Kracmar, M. Macek Jr., F. Votava

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

32

365 Cystic fibrosis newborn screening in the Czech Republic: overview of a pilot study

M. Balascakova, A. Holubova, V. Skalicka, P. Kracmar, V. Vavrova, D. Zemkova, J. Camajova, T. Piskackova, M. Macek Jr., F. Votava

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

33

356 Newborn screening (NBS) facilitates diagnosis of previously unrecognised CF in older siblings

V. Skalicka, T. Fischerova, K. Bohmova, M. Balascakova, D. Zemkova, F. Votava, M. Macek Jr., V. Vavrova

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

34

Method validation in cystic fibrosis DNA diagnostics: a basic tool for quality assurance

A. Stambergova, J. Camajova, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 55 KB

english, 2008

35

Mutation scanning of the CFTR gene by high-resolution melting analysis (HRM)

P. Krenkova, A. Stambergova, P. Norambuena, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 47 KB

english, 2008

36

Forty years isolation from W. Europe and its influence on the course of CF: an unwanted experiment

D. Zemkova, V. Skalicka, J. Bartosova, M. Macek Jr, V. Vavrova

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

37

Is intestinal inflammation present in CF patients?

H. Tomasova, D. Zemkova, J. Bartosova, M. Macek Jr, V. Vavrova

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 60 KB

english, 2008

38

ECORN-CF project in the Czech Republic: first experiences

J. Brazova, V. Vavrova, A. Pickova, L. Smolikova, M. Macek Jr

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 54 KB

english, 2008

39

EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTING

M. Schwarz, C. Castellani, H. Cuppens, M. Macek Jr, J.J. Cassiman, E. Kerem, P. Durie, E. Tullis, B.M. Assael, C. Bombieri, A. Brown, T. Casals, M. Claustres, G. Cutting, J. Dodge, I. Doull, P. Farrel

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 47 KB

english, 2008

40

CFTR gene analysis in the Western-Ukrainian population: an unusually high frequency of the 2184insA mutation

P. Krenkova, H. Makukh, M. Hancarova, L. Dvorakova, A. Stambergova, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

41

Factors influencing the worsening of lung function between 16 and 18 years of age in Czech patients

D. Zemkova, L. Smolikova, L. Fila, J. Bartosova, M. Macek Jr., V. Vavrova

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 63 KB

english, 2009

42

The CFTRdele2,3 (21 kb) mutation is present in cystic fibrosis patients from Eastern Hungary

I. Balogh, E. Dzsudzsak, B. Nagy, F. Gönczi, R. Ujhelyi, M. Macek Jr., E. Ajzner, J. Kappelmayer

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

43

Spectrum of CFTR mutations in the Czech Republic

P. Krenkova, T. Piskackova, M. Balascakova, A. Holubova, J. Camajova, M. Hancarova, L. Dvorakova, V. Skalicka, V. Vavrova, A. Stambergova, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

44

Experience with harmonizing the neonatal CF screening (NSCF) management via model IRT/PAP/DNA in the Czech Republic

M. Balascakova, V. Skalicka, P. Hodkova, T. Piskackova, L. Smolikova, P. Dřevinek, K. Austova, A. Pickova, F. Votava, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

45

24 Multicenter validation study of a novel StripAssay for cystic fibrosis

H. Puehringer, M. Macek Jr., A. Stambergova, L. Dvorakova, M. Dunø, B. Tuemmler, S. Hedtfeld, M. Tzetis, M. Poulou, C. Oberkanins

Journal:

Journal of Cystic Fibrosis

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

46

19* Summary of the simultaneous IRT/PAP/ST+DNA and IRT/DNA/IRT newborn screening protocols in the Czech Republic

V. Krulisova, M. Balascakova, V. Skalicka, T. Piskackova, A. Holubova, A. Stambergova, L. Dvorakova, P. Krenkova, D. Zemkova, P. Kracmar, V. Vavrova, M. Macek Jr., F. Votava

Journal:

Journal of Cystic Fibrosis

Year:

2011

Language:

english

File:

PDF, 41 KB

english, 2011

47

26 Establishment of borderline sweat chloride concentrations: statistical analysis of long-term Czech data

V Vavrova, J. Srajer, D Zemkova, M. Macek Jr.

Journal:

Journal of Cystic Fibrosis

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

48

Highly preferential association of NonF508del CF mutations with the M470 allele

B.M. Ciminelli, A. Bonizzato, C. Bombieri, F. Pompei, M. Gabaldo, C. Ciccacci, A. Begnini, A. Holubova, P. Zorzi, T. Piskackova, M. Macek Jr., C. Castellani, G. Modiano, P.F. Pignatti

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 650 KB

english, 2007

49

Detection of two Alu insertions in the CFTR gene

Jian-Min Chen, Emmanuelle Masson, Milan Macek Jr., Odile Raguénès, Tereza Piskackova, Brigitte Fercot, Libor Fila, David N. Cooper, Marie-Pierre Audrézet, Claude Férec

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 908 KB

english, 2008

50

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

C. Castellani, H. Cuppens, M. Macek Jr., J.J. Cassiman, E. Kerem, P. Durie, E. Tullis, B.M. Assael, C. Bombieri, A. Brown, T. Casals, M. Claustres, G.R. Cutting, E. Dequeker, J. Dodge, I. Doull, P. Fa

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008