Search Results - "Schubert, Stephanie A"

Germline variant affecting p53β isoforms predisposes to familial cancer by Schubert, Stephanie A., Ruano, Dina, Joruiz, Sebastien M., Stroosma, Jordy, Glavak, Nikolina, Montali, Anna, Pinto, Lia M., Rodríguez-Girondo, Mar, Barge-Schaapveld, Daniela Q. C. M., Nielsen, Maartje, van Nesselrooij, Bernadette P. M., Mensenkamp, Arjen R., van Leerdam, Monique E., Sharp, Thomas H., Morreau, Hans, Bourdon, Jean-Christophe, de Miranda, Noel F. C. C., van Wezel, Tom

“…Germline and somatic TP53 variants play a crucial role during tumorigenesis. However, genetic variations that solely affect the alternatively spliced p53…”
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Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome by Golubicki, Mariano, Bonjoch, Laia, Acuña-Ochoa, José G, Díaz-Gay, Marcos, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Cisterna, Daniel, Schubert, Stephanie A, Nielsen, Maartje, van Wezel, Tom, Goldberg, Yael, Pikarsky, Eli, Robbio, Juan, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Antelo, Marina, Castellví-Bel, Sergi

“…Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it is characterized by DNA mismatch repair (MMR) deficiency. The term…”
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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia by Schubert, Stephanie A, Ruano, Dina, Elsayed, Fadwa A, Boot, Arnoud, Crobach, Stijn, Sarasqueta, Arantza Farina, Wolffenbuttel, Bruce, van der Klauw, Melanie M, Oosting, Jan, Tops, Carli M, van Eijk, Ronald, Vasen, Hans FA, Vossen, Rolf HAM, Nielsen, Maartje, Castellví-Bel, Sergi, Ruiz-Ponte, Clara, Tomlinson, Ian, Dunlop, Malcolm G, Vodicka, Pavel, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans, de Miranda, Noel FCC, Sijmons, Rolf H, van Wezel, Tom

“…Background: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify…”
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The missing heritability of familial colorectal cancer by Schubert, Stephanie A, Morreau, Hans, de Miranda, Noel F C C, van Wezel, Tom

“…Pinpointing heritability factors is fundamental for the prevention and early detection of cancer. Up to one-quarter of colorectal cancers (CRCs) occur in the…”
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Germline NPAT inactivating variants as cause of hereditary colorectal cancer by Terradas, Mariona, Schubert, Stephanie A, Viana-Errasti, Julen, Ruano, Dina, Aiza, Gemma, Nielsen, Maartje, Marciel, Paula, Tops, Carli M, Parra, Genís, Morreau, Hans, Torrents, David, van Leerdam, Monique E, Capellá, Gabriel, de Miranda, Noel F C C, Valle, Laura, van Wezel, Tom

“…Two independent exome sequencing initiatives aimed to identify new genes involved in the predisposition to nonpolyposis colorectal cancer led to the…”
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Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer by Schubert, Stephanie A., Ruano, Dina, Tiersma, Yvonne, Drost, Mark, Wind, Niels, Nielsen, Maartje, Hest, Liselotte P., Morreau, Hans, Miranda, Noel F. C. C., Wezel, Tom

“…We describe a family severely affected by colorectal cancer (CRC) where whole‐exome sequencing identified the coinheritance of the germline variants encoding…”
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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia by Schubert, Stephanie A, Ruano, Dina, Elsayed, Fadwa A, Boot, Arnoud, Crobach, Stijn, Sarasqueta, Arantza Farina, Wolffenbuttel, Bruce, van der Klauw, Melanie M, Oosting, Jan, Tops, Carli M, van Eijk, Ronald, Vasen, Hans Fa, Vossen, Rolf Ham, Nielsen, Maartje, Castellví-Bel, Sergi, Ruiz-Ponte, Clara, Tomlinson, Ian, Dunlop, Malcolm G, Vodicka, Pavel, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans, de Miranda, Noel Fcc, Sijmons, Rolf H, van Wezel, Tom

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Proton Magnetic Resonance Spectroscopy Indicates Preserved Cerebral Biochemical Composition in Duchenne Muscular Dystrophy Patients by Doorenweerd, Nathalie, Hooijmans, Melissa, Schubert, Stephanie A, Webb, Andrew G, Straathof, Chiara S M, van Zwet, Erik W, van Buchem, Mark A, Verschuuren, Jan J G M, Hendriksen, Jos G M, Niks, Erik H, Kan, Hermien E

“…Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin. DMD is associated with specific learning and behavioural disabilities. In the brain,…”
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Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia by Schubert, Stephanie A, Ruano, Dina, Elsayed, Fadwa A, Boot, Arnoud, Crobach, Stijn, Sarasqueta, Arantza Farina, Wolffenbuttel, Bruce, van der Klauw, Melanie M, Oosting, Jan, Tops, Carli M, van Eijk, Ronald, Vasen, Hans FA, Vossen, Rolf HAM, Nielsen, Maartje, Castellví-Bel, Sergi, Ruiz-Ponte, Clara, Tomlinson, Ian, Dunlop, Malcolm G, Vodicka, Pavel, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans, de Miranda, Noel FCC, Sijmons, Rolf H, van Wezel, Tom

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