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51

The phenylketonuria G272X haplotype 7 mutation in European populations

Jaran Apold, Hans G. Eiken, Elisabeth Svensson, Erich Kunert, Libor Kozak, Petr Cechak, Flemming Güttler, Jacques Giltay, Uta Lichter-Konecki, Dominique Melle, Jadwiga Maria Jaruzelska

Journal:

Year:

1993

Language:

english

File:

PDF, 265 KB

english, 1993

52

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

Friedrich K. Trefz, M. Yoshino, A. Nishiyori, Frank Aengeneyndt, Brigitte Schmidt-Mader, Uta Lichter-Konecki, David S. Konecki

Journal:

Year:

1990

Language:

english

File:

PDF, 311 KB

english, 1990

53

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

Uta Lichter-Konecki, Magdalena Schlotter, Canan Yaylak, Meral Özgüç, Turgay Çoskun, Imran Özalp, Udo Wendel, Ulrich Batzler, Friedrich K. Trefz, David Konecki

Journal:

Year:

1989

Language:

english

File:

PDF, 416 KB

english, 1989

54

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

Uta Lichter-Konecki, Magdalena Schlotter, David S. Konecki, Sigfried Labeit, Savio L. C. Woo, Friedrich K. Trefz

Journal:

Year:

1988

Language:

english

File:

PDF, 843 KB

english, 1988

55

A simple method for the purification of reticulocyte globin messenger ribonucleic acid

David Konecki, J. Miguel Cimadevilla, Gisela Kramer, Boyd Hardesty

Journal:

Molecular Biology Reports

Year:

1975

Language:

english

File:

PDF, 330 KB

english, 1975

56

Histochemische Untersuchungen über das Verhalten einiger Enzyme in Nebennieren nach Ganzköirpervibration

J. Jonek, E. Stokłosa, J. Konecki

Journal:

International Archives of Occupational and Environmental Health

Year:

1964

Language:

german

File:

PDF, 1.49 MB

german, 1964

57

Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a humanrabGDP-dissociation inhibitor (GDI)

Z. Sedlacek, D. S. Konecki, B. Korn, S. M. Klauck, A. Poustka

Journal:

Mammalian Genome

Year:

1994

Language:

english

File:

PDF, 858 KB

english, 1994

58

Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families

M. Krawczak, D. S. Konecki, J. Schmidtke, M. Dück, W. Engel, W. Nützenadel, F. K. Trefz

Journal:

Year:

1988

Language:

english

File:

PDF, 266 KB

english, 1988

59

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders

U. Lichter-Konecki, A. Rupp, D. S. Konecki, F. K. Trefz, H. Schmidt, P. Burgard

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 234 KB

english, 1994

60

Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe

I. Barić, D. Mardešić, V. Sarnavøka, U. Lichter-Konecki, D. S. Konecki, F. K. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 124 KB

english, 1994

61

Haplotype distribution and molecular defects of PKU in Italy

I. Dianzani, C. Camaschella, G. Saglio, G. B. Ferrero, G. Romeo, M. Devoto, C. Romano, R. Cerone, M. Giovannini, E. Riva, F. K. Trefz, U. Lichter-Konecki, S. L. C. Woo

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 204 KB

english, 1990

62

Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population

C. Bender, A. Büchler, B. schmidt-Mader, M. Schlotter, A. S. Teebi, D. S. Konecki, F. K. Trefz

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 111 KB

english, 1994

63

3-Methylglutaconic aciduria in a patient with Pearson syndrome

U. Lichter-Konecki, F. K. Trefz, A. Rötig, A. Munnich, A. Pfeil, H. J. Bremer

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 255 KB

english, 1993

64

Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis

D. S. Konecki, S. Schweitzer-Krantz, D. Byrd, F. K. Tretz, U. Lichter-Konecki

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 180 KB

english, 1993

65

Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe

C. Bender, A. Büchler, R. Baumgartner, D. S. Konecki, F. K. Trefz

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 92 KB

english, 1994

66

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

U. Lichter-Konecki, M. schlotter, F. K. Trefz, D. S. Konecki

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 660 KB

english, 1989

67

Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

P. Burgard, A. Rupp, D. S. Konecki, F. K. Trefz, H. Schmidt, U. Lichter-Konecki

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 490 KB

english, 1996

68

Profiling of astrocyte properties in the hyperammonaemic brain: Shedding new light on the pathophysiology of the brain damage in hyperammonaemia

U. Lichter-Konecki

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 303 KB

english, 2008

69

Electric permittivity near the critical point of binary mixtures

Journal:

Chemical Physics Letters

Year:

1978

Language:

english

File:

PDF, 237 KB

english, 1978

70

Pattern Comparator Trigger (PACT) for the muon system of the CMS experiment

M. Andlinger, A. Kluge, F. Szoncso, G. Walzel, C.-E. Wulz, P. Gorodenski, F. Klefenz, R. Männer, Gy.L. Bencze, Á. Csilling, H. Czyrkowski, R. Da̧browski, W. Dominik, M. Konecki, J. Królikowski, M. Lew

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1996

Language:

english

File:

PDF, 695 KB

english, 1996

71

Extraction of electric field in heavily irradiated silicon pixel sensors

A. Dorokhov, Y. Allkofer, C. Amsler, D. Bortoletto, V. Chiochia, L. Cremaldi, S. Cucciarelli, C. Hörmann, D. Kim, M. Konecki, D. Kotlinski, K. Prokofiev, C. Regenfus, T. Rohe, D. Sanders, S. Son, T. S

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2006

Language:

english

File:

PDF, 696 KB

english, 2006

72

Observation, modeling, and temperature dependence of doubly peaked electric fields in irradiated silicon pixel sensors

M. Swartz, V. Chiochia, Y. Allkofer, D. Bortoletto, L. Cremaldi, S. Cucciarelli, A. Dorokhov, C. Hörmann, D. Kim, M. Konecki, D. Kotlinski, K. Prokofiev, C. Regenfus, T. Rohe, D.A. Sanders, S. Son, T.

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2006

Language:

english

File:

PDF, 372 KB

english, 2006

73

A double junction model of irradiated silicon pixel sensors for LHC

V. Chiochia, M. Swartz, Y. Allkofer, D. Bortoletto, L. Cremaldi, S. Cucciarelli, A. Dorokhov, C. Hörmann, D. Kim, M. Konecki, D. Kotlinski, K. Prokofiev, C. Regenfus, T. Rohe, D.A. Sanders, S. Son, T.

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2006

Language:

english

File:

PDF, 249 KB

english, 2006

74

Prospects for CP violation measurements with ATLAS and CMS

Journal:

Nuclear Physics B - Proceedings Supplements

Year:

2001

Language:

english

File:

PDF, 726 KB

english, 2001

75

Effects of anaesthesia on the chemosensory behaviour of Pacific salmon

T. P. Quinn, A. F. Olson, J. T. Konecki

Journal:

Journal of Fish Biology

Year:

1988

Language:

english

File:

PDF, 284 KB

english, 1988

76

Upward range extension of Andean anurans and chytridiomycosis to extreme elevations in response to tropical deglaciation

TRACIE A. SEIMON, ANTON SEIMON, PETER DASZAK, STEPHAN R.P. HALLOY, LISA M. SCHLOEGEL, CÉSAR A. AGUILAR, PRESTON SOWELL, ALEX D. HYATT, BRONWEN KONECKY, JOHN E SIMMONS

Journal:

Global Change Biology

Year:

2007

Language:

english

File:

PDF, 2.59 MB

english, 2007

77

Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome

Matsumoto, Naomichi, David, Donna E, Johnson, Eric W, Konecki, David, Burmester, James K, Ledbetter, David H, Weber, James L

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 397 KB

english, 2000

78

Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate

Arcos-Burgos, M, Castellanos, F X, Konecki, D, Lopera, F, Pineda, D, Palacio, J D, Rapoport, J L, Berg, K, Bailey-Wilson, J, Muenke, M

Journal:

Molecular Psychiatry

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

79

Fine Mapping of the Cystinosis Gene Using an Integrated Genetic and Physical Map of a Region within Human Chromosome Band 17p13

Geraldine McDowell, Takao Isogai, Akira Tanigami, Senator Hazelwood, David Ledbetter, Mihael H. Polymeropoulos, Uta Lichter-Konecki, David Konecki, Margaret M. Town, William Van’t Hoff, Jean Weissenba

Journal:

Biochemical and Molecular Medicine

Year:

1996

Language:

english

File:

PDF, 110 KB

english, 1996

80

Electron microscopic localization of acid phosphatase and thiamine pyrophosphatase activities in the motoneurons of exercised mice

Jan Jonek, Janusz Konecki, Henryk Grzybek, Zbigniew Olkowski

Journal:

Histochemistry and Cell Biology

Year:

1970

Language:

english

File:

PDF, 1.02 MB

english, 1970

81

Electron microscopical studies on the lysosomes and the Golgi apparatus in the motoneurons of spinal cords of mice under physiological and pathological conditions

Jan Jonek, Janusz Konecki, Henryk Grzybek, Zbigniew Olkowski

Journal:

Histochemistry and Cell Biology

Year:

1971

Language:

english

File:

PDF, 1.70 MB

english, 1971

82

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

M. Dasovich, D. Konecki, U. Lichter-Konecki, R. C. Eisensmith, F. Güttler, E. Naughton, C. Mullins, M. Giovannini, E. Riva, S. L. C. Woo

Journal:

Somatic Cell and Molecular Genetics

Year:

1991

Language:

english

File:

PDF, 598 KB

english, 1991

83

Spontaneous reversion of novel Lesch-Nyhan mutation byHPRTgene rearrangement

Thomas P. Yang, John T. Stout, David S. Konecki, Pragna I. Patel, Raye L. Alford, C. Thomas Caskey

Journal:

Somatic Cell and Molecular Genetics

Year:

1988

Language:

english

File:

PDF, 905 KB

english, 1988

84

Effect of L-ascorbic acid on the bioretention of169Yb

K. Samochocka, J. Konecki, M. Glowacka

Journal:

Journal of Radioanalytical and Nuclear Chemistry

Year:

1989

Language:

english

File:

PDF, 216 KB

english, 1989

85

The incorporation of selenium and ytterbium into some organs of mice determined by neutron activation analysis

J. Samochocka, M. Czauderna, J. Konecki, M. Wolna

Journal:

Journal of Radioanalytical and Nuclear Chemistry

Year:

1985

Language:

english

File:

PDF, 254 KB

english, 1985

86

Studies on the interaction between Se, Te, Cd, As and Zn and the distribution of Fe, Co, Rb and Hg in mice by instrumental neutron activation analysis

M. Czauderna, J. Konecki, M. Głowacka

Journal:

Journal of Radioanalytical and Nuclear Chemistry

Year:

1987

Language:

english

File:

PDF, 454 KB

english, 1987

87

Free amino acids in bee hive product (propolis) as identified and quantified by gas-liquid chromatography

Janusz Gabrys, Janusz Konecki, Wojciech Krol, Stanislaw Scheller, Jashovam Shani

Journal:

Pharmacological Research Communications

Year:

1986

Language:

english

File:

PDF, 223 KB

english, 1986

88

Symmetric and asymmetric fission of Ac isotopes near the fission threshold

E. Konecky, H.J. Specht, J. Weber

Journal:

Physics Letters B

Year:

1973

Language:

english

File:

PDF, 206 KB

english, 1973

89

Variant t(2;11)(p11.2;q13) without IGK involvement in a case of mantle cell lymphoma

Renata Woroniecka, Beata Grygalewicz, Barbara Pienkowska-Grela, Grzegorz Rymkiewicz, Robert Konecki, Pawel Swoboda, Przemyslaw Janik

Journal:

Cancer Genetics and Cytogenetics

Year:

2007

Language:

english

File:

PDF, 249 KB

english, 2007

90

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry

Silvia Tortorelli, Coleman T. Turgeon, James S. Lim, Steve Baumgart, Debra-Lynn Day-Salvatore, Jose Abdenur, Jonathan A. Bernstein, Fred Lorey, Uta Lichter-Konecki, Devin Oglesbee, Kimiyo Raymond, Die

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 817 KB

english, 2010

91

Electrocardiographic Findings in Patients With Diphenhydramine Overdose

Wojciech Zareba MD, PhD, Arthur J Moss MD, Spencer Z Rosero MD, Raef Hajj-Ali MD, JoAnne Konecki RN, Mark Andrews BBA

Journal:

The American Journal of Cardiology

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

92

TU wave area—Derived measures of repolarization dispersion in the long QT syndrome

Wojciech Zareba, Arthur J. Moss, JoAnne Konecki

Journal:

Journal of Electrocardiology

Year:

1998

Language:

english

File:

PDF, 480 KB

english, 1998

93

Beat-to-beat repolarization variability in amplitude and duration in lqts patients with the SCN5A sodium channel gene mutation

Jean-Philippe Couderc, Wojciech Zareba, Laura Burattini, Jo Ann Konecki, Arthur J Moss

Journal:

Journal of Electrocardiology

Year:

1998

Language:

english

File:

PDF, 82 KB

english, 1998

94

ECG features of microvolt T-wave alternans in coronary artery disease and long QT syndrome patients

Laura Burattini, Wojciech Zareba, Eric J Rashba, Jean Philippe Couderc, JoAnne Konecki, Arthur J Moss

Journal:

Journal of Electrocardiology

Year:

1998

Language:

english

File:

PDF, 533 KB

english, 1998

95

Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

Uta Lichter-Konecki, Sabine E. Moter, Bruce R. Krawisz, Magdalena Schlotter, Christine Hipke, David S. Konecki

Journal:

Differentiation

Year:

1999

Language:

english

File:

PDF, 2.09 MB

english, 1999

96

Simulation of Heavily Irradiated Silicon Pixel Sensors and Comparison With Test Beam Measurements

Chiochia, V., Swartz, M., Bortoletto, D., Cremaldi, L., Cucciarelli, S., Dorokhov, A., Hormann, C., Kim, D., Konecki, M., Kotlinski, D., Prokofiev, K., Regenfus, C., Rohe, T., Sanders, D.A., Son, S.,

Journal:

IEEE Transactions on Nuclear Science

Year:

2005

Language:

english

File:

PDF, 427 KB

english, 2005

97

Globin mRNA Translation on Artemia salina Ribosomes with Components from Friend Leukemia Cells

Gisela A. KRAMER, Pairoh PINPHANICHAKARN, David KONECKI, Boyd A. HARDESTY

Journal:

Year:

1975

Language:

english

File:

PDF, 855 KB

english, 1975

98

Quantitative determination of dynamical properties using coherent spatial frequency domain imaging

Rice, Tyler B., Konecky, Soren D., Mazhar, Amaan, Cuccia, David J., Durkin, Anthony J., Choi, Bernard, Tromberg, Bruce J.

Journal:

Journal of the Optical Society of America A

Year:

2011

Language:

english

File:

PDF, 756 KB

english, 2011

99

Imaging complex structures with diffuse light

Konecky, Soren D., Panasyuk, George Y., Lee, Kijoon, Markel, Vadim, Yodh, Arjun G., Schotland, John C.

Journal:

Year:

2008

Language:

english

File:

PDF, 387 KB

english, 2008

100

Quantitative optical tomography of sub-surface heterogeneities using spatially modulated structured light

Konecky, Soren D., Mazhar, Amaan, Cuccia, David, Durkin, Anthony J., Schotland, John C., Tromberg, Bruce J.

Journal:

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009