Search Results - "de Koning Gans, Pia A.M."

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis by van der Werf't Lam, Anne-Sophie, Helderman, Noah C., Boot, Arnoud, Terlouw, Diantha, Morreau, Hans, Mei, Hailian, Esveldt-van Lange, Rebecca E.E., Lakeman, Inge M.M., van Asperen, Christi J., Aten, Emmelien, Hofland, Nandy, de Koning Gans, Pia A.M., Rayner, Emily, Tops, Carli, de Wind, Niels, van Wezel, Tom, Nielsen, Maartje

“…Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains…”
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands by Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G

“…Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is…”
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment by Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie

“…ATP2B2 encodes the PMCA2 Ca 2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca 2+ from the…”
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A protein truncation test for Emery–Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations by de Koning Gans, Pia A.M, Ginjaar, Ieke, Bakker, Egbert, Yates, John R.W, den Dunnen, Johan T

“…X-linked Emery–Dreifuss muscular dystrophy (EMD) is caused by mutations in the emerin gene. Since the emerin gene is ubiquitously expressed and since all EMD…”
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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction by Wesdorp, Mieke, de Koning Gans, Pia A. M., Schraders, Margit, Oostrik, Jaap, Huynen, Martijn A., Venselaar, Hanka, Beynon, Andy J., van Gaalen, Judith, Piai, Vitória, Voermans, Nicol, van Rossum, Michelle M., Hartel, Bas P., Lelieveld, Stefan H., Wiel, Laurens, Verbist, Berit, Rotteveel, Liselotte J., van Dooren, Marieke F., Lichtner, Peter, Kunst, Henricus P. M., Feenstra, Ilse, Admiraal, Ronald J. C., Yntema, Helger G., Hoefsloot, Lies H., Pennings, Ronald J. E., Kremer, Hannie

“…Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous…”
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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients by Hofstra, Robert M.W., Mulder, Inge M., Vossen, Rolf, de Koning-Gans, Pia A. M., Kraak, Marian, Ginjaar, Ieke B., van der Hout, Annemarie H., Bakker, Egbert, Buys, Charles H.C.M., van Ommen, Gert-Jan B., van Essen, Anthonie J., den Dunnen, Johan T.

“…Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about…”
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Somatic expansion of the (CAG)n repeat in Huntington disease brains by DE ROOIJ, K. E, DE KONING GANS, P. A. M, ROOS, R. A. C, VAN OMMEN, G.-J. B, DEN DUNNEN, J. T

“…The mutation causing Huntington disease (HD) has been identified as an expansion of a polymorphic (CAG)n repeat in the 5' part of the huntingtin gene. The…”
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Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses by Skraastad, M I, de Rooij, K E, de Koning Gans, P A, Verwest, A, Vegter-van der Vlis, M, Bakker, E, den Dunnen, J T, van Ommen, G B

“…The candidate region for the Huntington disease (HD) gene has been narrowed down to a 2.2-Mb region between D4S10 and D4S98 on the short arm of chromosome 4…”
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