Search Results - "Theunissen, Tom E.J."

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells by Otten, Auke B.C., Theunissen, Tom E.J., Derhaag, Josien G., Lambrichs, Ellen H., Boesten, Iris B.W., Winandy, Marie, van Montfoort, Aafke P.A., Tarbashevich, Katsiaryna, Raz, Erez, Gerards, Mike, Vanoevelen, Jo M., van den Bosch, Bianca J.C., Muller, Marc, Smeets, Hubert J.M.

“…We studied the mtDNA bottleneck in zebrafish to elucidate size, timing, and variation in germline and non-germline cells. Mature zebrafish oocytes contain, on…”
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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans by Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby Mei, Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom Ej, Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E, Hofstra, Robert, de Coo, Irenaeus Fm, Tabet, Anne-Claude, Molina, Thierry J, Keren, Boris, Brooks, Alice, Smeets, Hubert Jm, Marklund, Ulrika, Gordon, Christopher T, Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

“…Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic…”
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Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing by Theunissen, Tom E.J., MSc, Sallevelt, Suzanne C.E.H., MD, Hellebrekers, Debby M.E.I., PhD, de Koning, Bart, PhD, Hendrickx, Alexandra T.M., BASc, van den Bosch, Bianca J.C., PhD, Kamps, Rick, BASc, Schoonderwoerd, Kees, PhD, Szklarczyk, Radek, PhD, Mulder-Den Hartog, Elvira N.M., MSc, de Coo, Irenaeus F.M., MD, PhD, Smeets, Hubert J.M., PhD

“…Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all…”
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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause by Theunissen, Tom E J, Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T, Sallevelt, Suzanne C E H, Gottschalk, Ralph W H, Calis, Chantal M, Stassen, Alphons P M, de Koning, Bart, Mulder-Den Hartog, Elvira N M, Schoonderwoerd, Kees, Fuchs, Sabine A, Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F M, Hellebrekers, Debby M E I, Smeets, Hubert J M

“…Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However,…”
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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype by Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Theunissen, Tom E J, Hendrickx, Alexandra T M, Gottschalk, Ralph W, Hoeijmakers, Janneke G J, Habets, Daphna D, Bierau, Jörgen, Schoonderwoerd, Kees G, Smeets, Hubert J M

“…In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and…”
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Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome by Roemen, Guido M J M, Theunissen, Tom E J, Hoezen, Ward W J, Steyls, Anja R M, Paulussen, Aimee D C, Mosterd, Klara, Rahikkala, Elisa, Zur Hausen, Axel, Speel, Ernst Jan M, van Geel, Michel

“…Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is…”
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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects by Theunissen, Tom E J, Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M E I, Mulder-Den Hartog, Elvira N M, Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G M, van der Knaap, Marjo S, de Coo, Irenaeus F M, Smeets, Hubert J M

“…In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical…”
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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect by Theunissen, Tom E J, Gerards, Mike, Hellebrekers, Debby M E I, van Tienen, Florence H, Kamps, Rick, Sallevelt, Suzanne C E H, Hartog, Elvira N M M-D, Scholte, Hans R, Verdijk, Robert M, Schoonderwoerd, Kees, de Coo, Irenaeus F M, Szklarczyk, Radek, Smeets, Hubert J M

“…Mitochondrial disorders are genetically and clinically heterogeneous, mainly affecting high energy-demanding organs due to impaired oxidative phosphorylation…”
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