Search Results - "Oud, M"

High prevalence of oncogenic MYD88 and CD79B mutations in primary testicular diffuse large B-cell lymphoma by Kraan, W, van Keimpema, M, Horlings, H M, Schilder-Tol, E J M, Oud, M E C M, Noorduyn, L A, Kluin, P M, Kersten, M J, Spaargaren, M, Pals, S T

Get full text

Disease gene discovery in male infertility: past, present and future by Xavier, M. J., Salas-Huetos, A., Oud, M. S., Aston, K. I., Veltman, J. A.

“…Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of…”
Get full text

High prevalence of oncogenic MYD88 and CD79B mutations in diffuse large B-cell lymphomas presenting at immune-privileged sites by Kraan, W, Horlings, H M, van Keimpema, M, Schilder-Tol, E J M, Oud, M E C M, Scheepstra, C, Kluin, P M, Kersten, M J, Spaargaren, M, Pals, S T

“…Activating mutations in CD79 and MYD88 have recently been found in a subset of diffuse large B-cell lymphoma (DLBCL), identifying B-cell receptor and MYD88…”
Get full text

Effectiveness of 3D-printed orthoses for traumatic and chronic hand conditions: A scoping review by Oud, T A M, Lazzari, E, Gijsbers, H J H, Gobbo, M, Nollet, F, Brehm, M A

“…In the field of orthotics, the use of three-dimensional (3D) technology as an alternative to the conventional production process of orthoses is growing. This…”
Get full text

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling by Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Yasunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O’Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Omran, Heymut, Lee, Eva Y.-H.P., Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm

“…Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene…”
Get full text

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome by Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

“…Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart…”
Get more information

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia by Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A

“…Abstract STUDY QUESTION Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER Exome sequencing in 15 cases of unexplained…”
Get full text

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders by Oud, M S, Houston, B J, Volozonoka, L, Mastrorosa, F K, Holt, G S, Alobaidi, B K S, deVries, P F, Astuti, G, Ramos, L, Mclachlan, R I, O'Bryan, M K, Veltman, J A, Chemes, H E, Sheth, H

“…What are the causative genetic variants in patients with male infertility due to severe sperm motility disorders? We identified high confidence disease-causing…”
Get full text

SISS-MCO: large scale sparsity-induced spot selection for fast and fully-automated robust multi-criteria optimisation of proton plans by Kong, W, Oud, M, Habraken, S J M, Huiskes, M, Astreinidou, E, Rasch, C R N, Heijmen, B J M, Breedveld, S

“…Intensity modulated proton therapy (IMPT) is an emerging treatment modality for cancer. However, treatment planning for IMPT is labour-intensive and…”
Get more information

De novo mutations in children born after medical assisted reproduction by Smits, R M, Xavier, M J, Oud, M S, Astuti, G D N, Meijerink, A M, de Vries, P F, Holt, G S, Alobaidi, B K S, Batty, L E, Khazeeva, G, Sablauskas, K, Vissers, L E L M, Gilissen, C, Fleischer, K, Braat, D D M, Ramos, L, Veltman, J A

“…Abstract STUDY QUESTION Are there more de novo mutations (DNMs) present in the genomes of children born through medical assisted reproduction (MAR) compared to…”
Get full text

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy by Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.

“…Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for…”
Get full text

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA by Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M H F, Lugtenberg, Dorien, Klaren, Peter H M, Vissers, Lisenka E L M, Roepman, Ronald, Oud, Machteld M

“…Skeletal ciliopathies are a group of disorders caused by dysfunction of the cilium, a small signaling organelle present on nearly every vertebrate cell. This…”
Get full text

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations by Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel

“…Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal…”
Get full text

Lack of evidence for a role of PIWIL1 variants in human male infertility by Oud, M.S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O’Bryan, M.K., McLachlan, R.I., Aston, K.I., Tüttelmann, F., Conrad, D.F., Veltman, J.A.

Get full text

Practical recommendations for improvement of the physical health care of patients with severe mental illness by van Hasselt, F. M., Oud, M. J. T., Loonen, A. J. M.

“…Objective Health care for the physical health of patients with severe mental illness (SMI) needs to be improved. Therefore, we aimed to develop policy…”
Get full text

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 by Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

“…A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan…”
Get full text

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease by Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M, Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M, Schmidts, Miriam, Arts, Heleen H, Latos-Bielenska, Anna, Wasilewska, Anna

“…Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a…”
Get full text

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis by Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.

“…Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing…”
Get full text

Analytic approximation formulae for European crack spread options by Aba Oud, M.A., Goard, J.

“…In this paper, we investigate and compare the pricing of European crack spread call options under different underlying models. New proposed univariate and…”
Get full text

Responsiveness of the Canadian occupational performance measure by Eyssen, Isaline C J M, Steultjens, Martijn P M, Oud, Tanja A M, Bolt, E Marije, Maasdam, Anke, Dekker, Joost

“…This study evaluated the responsiveness of the Canadian Occupational Performance Measure (COPM), an individualized, client-centered outcome measure for the…”
Get full text