Letteboer, T. G. W.: search on Z-Library

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1

Hereditary hemorrhagic telangiectasia:ENGandALK-1mutations in Dutch patients

T. G. W. Letteboer, R. A. Zewald, E. J. Kamping, G. de Haas, J. J. Mager, R. J. Snijder, D. Lindhout, F. A. M. Hennekam, C. J. J. Westermann, J. K. Ploos van Amstel

Journal:

Year:

2005

Language:

english

File:

PDF, 309 KB

english, 2005

2

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Suerink, Manon, van der Klift, Heleen M., ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G. W., Menko, F

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 347 KB

english, 2015

3

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2

ten Broeke, S.W., van Bavel, T.C., Jansen, A.M.L., Gómez-García, E., Hes, F.J., van Hest, L.P., Letteboer, T.G.W., Olderode-Berends, M.J.W., Ruano, D., Spruijt, L., Suerink, M., Tops, C.M., van Eijk,

Journal:

Gastroenterology

Year:

2018

Language:

english

File:

PDF, 640 KB

english, 2018

4

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis

Paul, Philip, Letteboer, Tom, Gelbert, Larry, Groden, Joanna, White, Ray, Coppes, Max J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.40 MB

english, 1993

5

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Paulien Terhal, Marie-José van den Bogaard, Saskia Maas, Ben Hamel, Georgette Salieb-Beugelaar, Marleen Simon, Tom Letteboer, Jasper van der Smagt, Hester Kroes, Marcel Mannens

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 485 KB

english, 2006

6

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., Capella Munar, G., Gomez Garcia, E., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblo

Journal:

Journal of Clinical Oncology

Year:

2015

Language:

english

File:

PDF, 275 KB

english, 2015

7

Is hereditary haemorrhagic telangiectasia rare in the black race? The first sub-Saharan mutation

C. J. J. WESTERMANN, G. W. KITONYI, T. G. W. LETTEBOER

Journal:

Year:

2011

Language:

english

File:

PDF, 39 KB

english, 2011

8

[IEEE 2004 2nd IEEE International Symposium on Biomedical Imaging: Macro to Nano - Arlington, VA, USA (15-18 April 2004)] 2004 2nd IEEE International Symposium on Biomedical Imaging: Macro to Nano (IEEE Cat No. 04EX821) - Three-dimensional reconstruction of tracked freehand ultrasound using non-rigid registration

Penney, G.P., Joosten, K., Letteboer, M.M.J., Viergever, M.A., Niessen, W.J.

Year:

2004

Language:

english

File:

PDF, 549 KB

english, 2004

9

FERM protein EPB41L5 is a novel member of the mammalian CRB–MPP5 polarity complex

Ilse Gosens, Alessandro Sessa, Anneke I. den Hollander, Stef J.F. Letteboer, Valentina Belloni, Maarten L. Arends, André Le Bivic, Frans P.M. Cremers, Vania Broccoli, Ronald Roepman

Journal:

Experimental Cell Research

Year:

2007

Language:

english

File:

PDF, 1.62 MB

english, 2007

10

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

van Wijk, E., Kersten, F. F.J., Kartono, A., Mans, D. A., Brandwijk, K., Letteboer, S. J.F., Peters, T. A., Marker, T., Yan, X., Cremers, C. W.R.J., Cremers, F. P.M., Wolfrum, U., Roepman, R., Kremer,

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 941 KB

english, 2008

11

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

Letteboer, Tom G. W., Benzinou, Michael, Merrick, Christopher B., Quigley, David A., Zhau, Kechen, Kim, Il-Jin, To, Minh D., Jablons, David M., van Amstel, Johannes K. P., Westermann, Cornelius J. J.,

Journal:

Frontiers in Genetics

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

12

Erratum: Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Benzinou, Michael, Clermont, Frederic F., Letteboer, Tom G W., Kim, Jai-hyun, Espejel, Silvia, Harradine, Kelly A., Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Z

Journal:

Nature Communications

Year:

2012

Language:

english

File:

PDF, 86 KB

english, 2012

13

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Saksens, Nicole T M, Krebs, Mark P, Schoenmaker-Koller, Frederieke E, Hicks, Wanda, Yu, Minzhong, Shi, Lanying, Rowe, Lucy, Collin, Gayle B, Charette, Jeremy R, Letteboer, Stef J, Neveling, Kornelia,

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 3.95 MB

english, 2015

14

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function

Ba, W., Selten, M.M., van der Raadt, J., van Veen, H., Li, L.-L., Benevento, M., Oudakker, A.R., Lasabuda, R.S.E., Letteboer, S.J., Roepman, R., van Wezel, R.J.A., Courtney, M.J., van Bokhoven, H., Na

Journal:

Year:

2016

Language:

english

File:

PDF, 3.60 MB

english, 2016

15

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, D

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 867 KB

english, 2012

16

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Lettebo

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.30 MB

english, 2014

17

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

Di Gioia, S. A., Letteboer, S. J. F., Kostic, C., Bandah-Rozenfeld, D., Hetterschijt, L., Sharon, D., Arsenijevic, Y., Roepman, R., Rivolta, C.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

18

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Oud, Machteld M., Latour, Brooke L., Bakey, Zeineb, Letteboer, Stef J., Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A. M., Yntema, Helger G., Schmidts, Miriam, Roepman, Ronald, Bongers, Ern

Journal:

Year:

2018

Language:

english

File:

PDF, 3.83 MB

english, 2018

19

Brain shift estimation in image-guided neurosurgery using 3-D ultrasound

Letteboer, M.M.J., Willems, P.W.A., Viergever, M.A., Niessen, W.J.

Journal:

IEEE Transactions on Biomedical Engineering

Year:

2005

Language:

english

File:

PDF, 1.13 MB

english, 2005

20

MPP5 Recruits MPP4 to the CRB1 Complex in Photoreceptors

Kantardzhieva, Albena, Gosens, Ilse, Alexeeva, Svetlana, Punte, Ingrid M., Versteeg, Inge, Krieger, Elmar, Neefjes-Mol, Carla A., den Hollander, Anneke I., Letteboer, Stef J. F., Klooster, Jan, Cremer

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 726 KB

english, 2005

21

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Benzinou, Michael, Clermont, Frederic F., Letteboer, Tom G.W., Kim, Jai-hyun, Espejel, Silvia, Harradine, Kelly A., Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Z

Journal:

Nature Communications

Year:

2012

Language:

english

File:

PDF, 930 KB

english, 2012

22

Adherence to Microsatellite Instability Testing in Young-Onset Colorectal Cancer Patients

Kessels, Koen, Fidder, Herma H., de Groot, Nicolette L., Letteboer, Tom G., Timmer, Robin, van Dalen, Thijs, Consten, Esther C., Offerhaus, G. Johan A., Siersema, Peter D.

Journal:

Diseases of the Colon & Rectum

Year:

2013

Language:

english

File:

PDF, 363 KB

english, 2013

23

SPIE Proceedings [SPIE BiOS '99 International Biomedical Optics Symposium - San Jose, CA (Saturday 23 January 1999)] Optical Tomography and Spectroscopy of Tissue III - Photoacoustic tissue scanning (PATS)

Hoelen, Christoph G., Kolkman, Roy G. M., Letteboer, M., Berendsen, Ralph, de Mul, Frits F. M., Chance, Britton, Alfano, Robert R., Tromberg, Bruce J.

Year:

1999

Language:

english

File:

PDF, 2.16 MB

english, 1999

24

A Pulmonary Right-to-Left Shunt in Patients With Hereditary Hemorrhagic Telangiectasia Is Associated With an Increased Prevalence of Migraine

Post, Martijn C., Letteboer, Tom G.W., Mager, Johannes J., Plokker, Thijs H., Kelder, Johannes C., Westermann, Cornelius J.J.

Journal:

Year:

2005

Language:

english

File:

PDF, 79 KB

english, 2005

25

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

Frikstad, Kari-Anne M., Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A., Hughes, Frances, Letteboer, Stef J.F., Gilani, Sania, Schink, Kay O., Stokke, Trond, Geimer, Stefan, Pedersen, Lotte

Journal:

Year:

2019

File:

PDF, 5.38 MB

2019

26

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

Coene, K. L. M., Mans, D. A., Boldt, K., Gloeckner, C. J., van Reeuwijk, J., Bolat, E., Roosing, S., Letteboer, S. J. F., Peters, T. A., Cremers, F. P. M., Ueffing, M., Roepman, R.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 590 KB

english, 2011

27

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 2.74 MB

english, 2009

28

Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

van Gent, Marco W.F., Velthuis, Sebastiaan, Post, Martijn C., Snijder, Repke J., Westermann, Cornelis J.J., Letteboer, Tom G.W., Mager, Johannes J.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 199 KB

english, 2013

29

Mo1976 A Family History Questionnaire Sent to Patients Undergoing Outpatient Colonoscopy Enhances Genetic Counseling for Hereditary Colorectal Cancer

Kessels, Koen, Eisinger, Joey, Letteboer, Tom, Offerhaus, Johan, Siersema, Peter D., Moons, Leon M.

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 737 KB

english, 2015

30

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 565 KB

english, 2007

31

Assessment of Intestinal Vascular Malformations in Patients with Hereditary Hemorrhagic Teleangiectasia and Anaemia

Sebastiaan V. Tuyl, Tom G.W. Letteboer, Claudia Rogge-Wolf, Ernst J. Kuipers, Repke J. Snijder, Cees J.J. Westermann, Mark F.J. Stolk

Journal:

Gastrointestinal Endoscopy

Year:

2006

Language:

english

File:

PDF, 49 KB

english, 2006

32

Identification of novel interaction partners for Vlgr1b/GPR98 - a key component of the periciliary Usher syndrome protein network in photoreceptor cells

B Knapp, SJ Letteboer, E van Wijk, K Boldt, M Ueffing, H Kremer, R Roepman…

Journal:

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

33

Rigid registration of 3D ultrasound data of brain tumours

Marloes M.J Letteboer, Max A Viergever, Wiro J Niessen

Journal:

International Congress Series

Year:

2003

Language:

english

File:

PDF, 400 KB

english, 2003

34

MPP1 links the Usher protein network and the Crumbs protein complex in the retina

Gosens, I., van Wijk, E., Kersten, F. F.J., Krieger, E., van der Zwaag, B., Marker, T., Letteboer, S. J.F., Dusseljee, S., Peters, T., Spierenburg, H. A., Punte, I. M., Wolfrum, U., Cremers, F. P.M.,

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 817 KB

english, 2007

35

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L.M. Coene, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman F. Als

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.03 MB

english, 2008

36

Segmentation of tumors in magnetic resonance brain images using an interactive multiscale watershed algorithm1

Letteboer, Marloes M.J., Olsen, Ole F., Dam, Erik B., Willems, Peter W.A., Viergever, Max A., Niessen, Wiro J.

Journal:

Academic Radiology

Year:

2004

Language:

english

File:

PDF, 616 KB

english, 2004

37

Scrutinizing ciliopathies by unravelling the ciliary interactome

J van Reeuwijk, K Boldt, DA Mans, Y Texier, SE van Beersum, SJ Letteboer…

Journal:

Year:

2012

Language:

english

File:

PDF, 78 KB

english, 2012

38

Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia

van Tuyl, Sebastiaan A.C., Letteboer, Tom G.W., Rogge-Wolf, Claudia, Kuipers, Ernst J., Snijder, Repke J., Westermann, Cees J.J., Stolk, Mark F.J.

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2007

Language:

english

File:

PDF, 107 KB

english, 2007

39

Genetic variants of Adam17 differentially regulate TGF signaling to modify vascular pathology in mice and humans

Kawasaki, K., Freimuth, J., Meyer, D. S., Lee, M. M., Tochimoto-Okamoto, A., Benzinou, M., Clermont, F. F., Wu, G., Roy, R., Letteboer, T. G. W., Ploos van Amstel, J. K., Giraud, S., Dupuis-Girod, S.,

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 961 KB

english, 2014

40

[BMJ Publishing Group Ltd Abstracts of the 25th Biennial Congress of the European Association for Cancer Research, Amsterdam, The Netherlands, 30 June â 3 July 2018 - ()] Poster Presentation - PO-467âUnclarified cases of microsatellite instability analyses for lynch syndrome diagnostics

Ma, H, Geurts-Giele, WRR, Alkemade, M, Koudijs, M, Letteboer, TGW, Dinjens, WNM, Morsink, FHM, Offerhaus, GJA, Brosens, LAA, Leng, WWJ De

File:

PDF, 70 KB

41

Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia

Tom G.W. Letteboer, Hans-Jurgen Mager, Repke J. Snijder, Dick Lindhout, Hans-Kristian Ploos van Amstel, Pieter Zanen, Kees J.J. Westermann

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 131 KB

english, 2008

42

SMAD4 mutations found in unselected HHT patients

Gallione, C J, Richards, J A, Letteboer, T G W, Rushlow, D, Prigoda, N L, Leedom, T P, Ganguly, A, Castells, A, Ploos van Amstel, J K, Westermann, C J J, Pyeritz, R E, Marchuk, D A

Journal:

Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

43

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

Hes, F. J., Ruano, D., Nieuwenhuis, M., Tops, C. M., Schrumpf, M., Nielsen, M., Huijts, P. E. A., Wijnen, J. T., Wagner, A., Garcia, E. B. G., Sijmons, R. H., Menko, F. H., Letteboer, T. G. W., Hooger

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 329 KB

english, 2014

44

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

Jansen, Anne ML, van Wezel, Tom, van den Akker, Brendy EWM, Ventayol Garcia, Marina, Ruano, Dina, Tops, Carli MJ, Wagner, Anja, Letteboer, Tom GW, Gómez-García, Encarna B, Devilee, Peter, Wijnen, Juul

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 240 KB

english, 2015

45

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

Corral-Serrano, Julio C., Lamers, Ideke J. C., van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita D. M., Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate A. A., Letteboer, Stef J. F., Butch

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

File:

PDF, 2.45 MB

2020

46

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim, Letteboer, Stef J. F., Antony, Dinu, Darwish, Alaa, Mans, Dorus A., Spittler, Sabrina, Edelbusch, Christine, Cindrić

Journal:

Year:

2018

Language:

english

File:

PDF, 32.49 MB

english, 2018

47

R-023. The use of photographs and computer pictures (JPEG) for the evaluation of sperm morphology in external quality assessment schemes

van der Horst, F.A.L., van Kooij, R.J., Mijnes, F., Seidl, B.H., Letteboer, S., Koenders, J., Vreeburg, J.T.M.

Journal:

Human Reproduction

Year:

1999

Language:

english

File:

PDF, 205 KB

english, 1999

48

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

P. Rump, T.G.W. Letteboer, J.J.P. Gille, M.J.L. Torringa, W. Baerts, J.P.J. van Gestel, J.B.G.M. Verheij, A.J. van Essen

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

49

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline

Kloosterman, W. P., Guryev, V., van Roosmalen, M., Duran, K. J., de Bruijn, E., Bakker, S. C. M., Letteboer, T., van Nesselrooij, B., Hochstenbach, R., Poot, M., Cuppen, E.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 257 KB

english, 2011

50

Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation

Postema, Floor A.M., Hopman, Saskia M.J., Aalfs, Cora M., Berger, Lieke P.V., Bleeker, Fonnet E., Dommering, Charlotte J., Jongmans, Marjolijn C.J., Letteboer, Tom G.W., Olderode-Berends, Maran J.W.,

Journal:

European Journal of Cancer

Year:

2017

Language:

english

File:

PDF, 517 KB

english, 2017

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