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51

OR6,2 Short stature caused by a novel heterozygous mutation in the IGF-I gene

H.A. van Duyvenvoorde, P.A. van Setten, M-J.E. Walenkamp, J. van Doorn, J. Koenig, L. Gauguin, M. Losekoot, K. Noordam, P. De Meyts, M. Karperien, J.M. Wit

Journal:

Growth Hormone & IGF Research

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

52

Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations

Juul Wijnen, P. Meera Khan, Hans Vasen, Heleen van der Klift, Adri Mulder, Inge van Leeuwen-Cornelisse, Bert Bakker, Monique Losekoot, Pål Møller, Riccardo Fodde

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 98 KB

english, 1997

53

Metabolism and accumulation of the lipophilic deoxynucleoside analogs elacytarabine and CP-4126

Auke D. Adema, Kees Smid, Nienke Losekoot, Richard J. Honeywell, Henk M. Verheul, Finn Myhren, Marit L. Sandvold, Godefridus J. Peters

Journal:

Investigational New Drugs

Year:

2012

Language:

english

File:

PDF, 365 KB

english, 2012

54

Diagnosis of generalized glycogen storage disease (Pompe's disease)

F. Huijing, S. van Creveld, G. Losekoot

Journal:

The Journal of Pediatrics

Year:

1963

Language:

english

File:

PDF, 1.46 MB

english, 1963

55

Borderline repeat expansion in Huntington's disease

K.E de Rooij, P.A.M de Koning Gans, M Losekoot, E Bakker, J.T den Dunnen, M Vegter-van der Vlis, R.A.C Roos, G.J.B van Ommen

Journal:

Year:

1993

Language:

english

File:

PDF, 315 KB

english, 1993

56

The Wolff-Parkinson-White syndrome in childhood

Tom G. Losekoot, Wies L.J. Lubbers

Journal:

International Journal of Cardiology

Year:

1990

Language:

english

File:

PDF, 1.60 MB

english, 1990

57

Prenatal Diagnosis of Homozygous αº-Thalassemia by an Immunological Method

L. F. BERNINI, H. H. H. KANHAI, M. LOSEKOOT, P. GIORDANO, C. L. HARTEVELD

Journal:

Annals of the New York Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 1.18 MB

english, 1994

58

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben,

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 546 KB

english, 2014

59

Metabolism, mechanism of action and sensitivity profile of fluorocyclopentenylcytosine (RX-3117; TV-1360)

Peters, Godefridus J., Smid, Kees, Vecchi, Leonardo, Kathmann, Ietje, Sarkisjan, Dzjemma, Honeywell, Richard J., Losekoot, Nienke, Ohne, Osnat, Orbach, Aric, Blaugrund, Eran, Jeong, Lak Shin, Lee, You

Journal:

Investigational New Drugs

Year:

2013

Language:

english

File:

PDF, 537 KB

english, 2013

60

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

Quarrell, O. W J, Rigby, A. S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

61

Terrorism, rugby, and hospitality: She׳ll be right

Peter, Cyril, Poulston, Jill, Losekoot, Erwin

Journal:

Journal of Destination Marketing & Management

Year:

2014

Language:

english

File:

PDF, 421 KB

english, 2014

62

Contents of volume 11

Calcaterra, Giuseppe, Lam, Jan, Losekoot, Tom G.

Journal:

Hearing Research

Year:

1983

Language:

english

File:

PDF, 114 KB

english, 1983

63

Retrograde pulmonary arteriography

Calcaterra, Giuseppe, Lam, Jan, Losekoot, Tom G.

Journal:

International Journal of Cardiology

Year:

1984

Language:

english

File:

PDF, 727 KB

english, 1984

64

Nucleotide sequence of the Belgian Gγ+(Aγδβ)0-thalassemia deletion breakpoint suggests a common mechanism for a number of such recombination events

Fodde, Riccardo, Losekoot, Monique, Casula, Letizia, Bernini, Luigi F.

Journal:

Year:

1990

Language:

english

File:

PDF, 576 KB

english, 1990

65

The effect of allopurinol and low-dose thiopurine combination therapy on the activity of three pivotal thiopurine metabolizing enzymes: Results from a prospective pharmacological study

Seinen, M.L., van Asseldonk, D.P., de Boer, N.K.H., Losekoot, N., Smid, K., Mulder, C.J.J., Bouma, G., Peters, G.J., van Bodegraven, A.A.

Journal:

Journal of Crohn's and Colitis

Year:

2013

Language:

english

File:

PDF, 445 KB

english, 2013

66

Editorial note The significance and diagnosis of a discordant atrioventricular connexion

Losekoot, Tom G.

Journal:

International Journal of Cardiology

Year:

1985

Language:

english

File:

PDF, 160 KB

english, 1985

67

Components contributing to beef flavor; natural precursors of 4-hydroxy-5-methyl-3(2H)-furanone in beef broth

Tonsbeek, Christiaan H. T., Koenders, E. B., Van der Zijden, A. S. M., Losekoot, J. A.

Journal:

Journal of Agricultural and Food Chemistry

Year:

1969

Language:

english

File:

PDF, 461 KB

english, 1969

68

A Novel Frameshift Mutation [FSC 47 (+A)] Causing β-Thalassemia in a Surinam Patient

Losekoot, M., Fodde, R., van Heeren, H., Harteveld, C. L., Giordano, P. C., Bernini, L. F.

Journal:

Year:

1990

Language:

english

File:

PDF, 276 KB

english, 1990

69

A new mutation for Huntington disease following maternal transmission of an intermediate allele

Semaka, Alicia, Kay, Chris, Belfroid, René D.M., Bijlsma, Emilia K., Losekoot, Monique, van Langen, Irene M., van Maarle, Merel C., Oosterloo, Mayke, Hayden, Michael R., van Belzen, Martine J.

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 255 KB

english, 2015

70

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

Weinreich, Stephanie S, Bosma, Astrid, Henneman, Lidewij, Rigter, Tessel, Spruijt, Carla MJ, Grimbergen, Anneliese JEMA, Breuning, Martijn H, de Koning, Eelco JP, Losekoot, Monique, Cornel, Martina C

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 304 KB

english, 2015

71

Selection of the Best Blood Compartment to Measure Cytidine Deaminase Activity to Stratify for Optimal Gemcitabine or Cytarabine Treatment

Peters, Godefridus J., Honeywell, Richard J., Maulandi, Marie, Giovannetti, Elisa, Losekoot, Nienke, Etienne-Grimaldi, Marie-Christine, Milano, Gerard, Serdjebi, Cindy, Ciccolini, Joseph

Journal:

Nucleosides Nucleotides & Nucleic Acids

Year:

2014

Language:

english

File:

PDF, 294 KB

english, 2014

72

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

Losekoot, Monique, van Belzen, Martine J, Seneca, Sara, Bauer, Peter, Stenhouse, Susan A R, Barton, David E

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 445 KB

english, 2013

73

IGSF1 deficiency syndrome

Joustra, Sjoerd D., van Trotsenburg, A. S. Paul, Sun, Yu, Losekoot, Monique, Bernard, Daniel J., Biermasz, Nienke R., Oostdijk, Wilma, Wit, Jan M.

Journal:

Year:

2013

Language:

english

File:

PDF, 169 KB

english, 2013

74

IGSF1variants in boys with familial delayed puberty

Joustra, Sjoerd D., Wehkalampi, Karoliina, Oostdijk, Wilma, Biermasz, Nienke R., Howard, Sasha, Silander, Tanya L., Bernard, Daniel J., Wit, Jan M., Dunkel, Leo, Losekoot, Monique

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

75

In vitro activity and mechanism of action of a duplex and multidrug of ethynylcytidine and 5-fluorodeoxyuridine

Bijnsdorp, I., Schwendener, R., Schott, H, Schott, S, Fichtner, I, Honeywell, R., Losekoot, N, Laan, A., Peters, G.

Journal:

Nucleic Acids Symposium Series

Year:

2008

File:

PDF, 83 KB

2008

76

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.

De Rooij, K E, De Koning Gans, P A, Skraastad, M I, Belfroid, R D, Vegter-Van Der Vlis, M, Roos, R A, Bakker, E, Van Ommen, G J, Den Dunnen, J T, Losekoot, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.28 MB

english, 1993

77

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

Losekoot, M., Ruivenkamp, C. A. L., Tholens, A. P., Grimbergen, J. E. M. A., Vijfhuizen, L., Vermeer, S., Dijkman, H. B., Cornelissen, E. A. M., Bongers, E. M. H. F., Peters, D. J. M.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 553 KB

english, 2012

78

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Losekoot, M, Hoogendoorn, E, Olmer, R, Jansen, C C, Oosterwijk, J C, van den Ouweland, A M, Halley, D J, Warren, S T, Willemsen, R, Oostra, B A, Bakker, E

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 796 KB

english, 1997

79

A Southern Ocean dietary database

Raymond, Ben, Marshall, Michelle, Nevitt, Gabrielle, Gillies, Chris L., van den Hoff, John, Stark, Jonathan S., Losekoot, Marcel, Woehler, Eric J., Constable, Andrew J.

Journal:

Year:

2011

Language:

english

File:

PDF, 188 KB

english, 2011

80

Huntington's disease in Saudi Arabia.

Bohlega, S, McLean, D, Omer, S, al Kawi, Z, Roos, R A, Losekoot, M, Bakker, E

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 259 KB

english, 1995

81

How change does not happen: The impact of culture on a submarine base

Losekoot, Erwin, Leishman, Emma, Alexander, Matthew

Journal:

Tourism and Hospitality Research

Year:

2008

Language:

english

File:

PDF, 125 KB

english, 2008

82

Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.

Losekoot, M, Fodde, R, Harteveld, C L, van Heeren, H, Giordano, P C, Went, L N, Bernini, L F

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 526 KB

english, 1991

83

Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit

van Duyvenvoorde, H A, Kempers, M J E, Twickler, T. B, van Doorn, J, Gerver, W J, Noordam, C, Losekoot, M, Karperien, M, Wit, J M, Hermus, A R M M

Journal:

European Journal of Endocrinology

Year:

2008

Language:

english

File:

PDF, 318 KB

english, 2008

84

Anomalous left coronary artery arising from the pulmonary artery. A report on two cases with successful surgical therapy.

Losekoot, G, Renaud, E J, Meyne, N G, van Dam, R T

Journal:

Heart (BMJ Pub. Group)

Year:

1966

Language:

english

File:

PDF, 2.65 MB

english, 1966

85

Congenital coronary artery fistula. Analysis of 17 cases.

de Nef, J J, Varghese, P J, Losekoot, G

Journal:

Heart (BMJ Pub. Group)

Year:

1971

Language:

english

File:

PDF, 1.56 MB

english, 1971

86

PS6 - 5. Towards best practice guidelines for genetic testing for Maturity-Onset Diabetes of the Young

Rigter, Tessel, Bosma, Astrid, Weinreich, Stephanie S., Henneman, Lidewij, de Koning, Eelco J.P., Breuning, Martijn H., Losekoot, Monique, Cornel, Martina C.

Journal:

Nederlands Tijdschrift voor Diabetologie

Year:

2013

Language:

english

File:

PDF, 233 KB

english, 2013

87

Consequences of empowerment among restaurant servers

Kim, BeomCheol (Peter), Losekoot, Erwin, Milne, Simon

Journal:

Management Decision

Year:

2013

Language:

english

File:

PDF, 193 KB

english, 2013

88

Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH

Petkovic, V., Miletta, M. C., Boot, A. M., Losekoot, M., Fluck, C. E., Pandey, A. V., Eble, A., Wit, J. M., Mullis, P. E.

Journal:

European Journal of Endocrinology

Year:

2013

Language:

english

File:

PDF, 235 KB

english, 2013

89

LRP5 variants may contribute to ADPKD

Cnossen, Wybrich R, te Morsche, René HM, Hoischen, Alexander, Gilissen, Christian, Venselaar, Hanka, Mehdi, Soufi, Bergmann, Carsten, Losekoot, Monique, Breuning, Martijn H, Peters, Dorien JM, Veltman

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

90

Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.

DudokdeWit, A C, Tibben, A, Duivenvoorden, H J, Frets, P G, Zoeteweij, M W, Losekoot, M, van Haeringen, A, Niermeijer, M F, Passchier, J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.74 MB

english, 1997

91

Evidence for olfactory search in wandering albatross, Diomedea exulans

Nevitt, G. A., Losekoot, M., Weimerskirch, H.

Journal:

Proceedings of the National Academy of Sciences

Year:

2008

Language:

english

File:

PDF, 758 KB

english, 2008

92

Ebstein's anomaly in persistent common atrioventricualr canal.

Caruso, G, Losekoot, T G, Becker, A E

Journal:

Heart (BMJ Pub. Group)

Year:

1978

Language:

english

File:

PDF, 1.42 MB

english, 1978

93

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

Giordano, Piero C., Harteveld, Cees L., Heister, Angelien J.G.M., Batelaan, Desir&eacute, e, van Delft, Peter, Plug, Rob, Losekoot, Monique, Bernini, Luigi F.

Journal:

Community Genetics

Year:

1998

Language:

english

File:

PDF, 273 KB

english, 1998

94

Alu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature

Harmel, Eva-Maria, Binder, Gerhard, Barnikol-Oettler, Anja, Caliebe, Janina, Kiess, Wieland, Losekoot, Monique, Ranke, Michael B., Rappold, Gudrun A., Schlicke, Marina, Stobbe, Heike, Wit, Jan M., Pfä

Journal:

Hormone Research in Paediatrics

Year:

2013

Language:

english

File:

PDF, 348 KB

english, 2013

95

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

Walenkamp, M.J.E., Klammt, J., Feigerlova, E., Losekoot, M., van Duyvenvoorde, H.A., Hwa, V., Pfäffle, R., Wit, J.M.

Journal:

Hormone Research in Paediatrics

Year:

2013

Language:

english

File:

PDF, 368 KB

english, 2013

96

Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

Kempers, M.J.E., van der Crabben, S.N., de Vroede, M., Alfen-van der Velden, J., Netea-Maier, R.T., Duim, R.A.J., Otten, B.J., Losekoot, M., Wit, J.M.

Journal:

Hormone Research in Paediatrics

Year:

2013

Language:

english

File:

PDF, 388 KB

english, 2013

97

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

van Duyvenvoorde, H. A., van Setten, P. A., Walenkamp, M. J. E., van Doorn, J., Koenig, J., Gauguin, L., Oostdijk, W., Ruivenkamp, C. A. L., Losekoot, M., Wade, J. D., De Meyts, P., Karperien, M., Noo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

98

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF- B activation

Mul, D., Wu, S., de Paus, R. A., Oostdijk, W., Lankester, A. C., Duyvenvoorde, H. A. v., Ruivenkamp, C. A. L., Losekoot, M., Tol, M. J. D. v., De Luca, F., van de Vosse, E., Wit, J. M.

Journal:

European Journal of Endocrinology

Year:

2012

Language:

english

File:

PDF, 252 KB

english, 2012

99

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas

van Houtum, W H, Corssmit, E P M, Douwes Dekker, P B, Jansen, J C, van der Mey, A G L, Brocker-Vriends, A H J T, Taschner, P E M, Losekoot, M, Frolich, M, Stokkel, M P M, Cornelisse, C J, Romijn, J A

Journal:

European Journal of Endocrinology

Year:

2005

Language:

english

File:

PDF, 178 KB

english, 2005

100

Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.

Deutz-Terlouw, P P, Losekoot, M, Olmer, R, Pieneman, W C, de Vries-v d Weerd, S, Briet, E, Bakker, E

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 1.04 MB

english, 1995