Works matching AU Wimmer, Katharina

Results: 50

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 85, doi. 10.1002/humu.24299

By:

Sehested, Astrid;
Meade, Julia;
Scheie, David;
Østrup, Olga;
Bertelsen, Birgitte;
Misiakou, Maria Anna;
Sarosiek, Tomasz;
Kessler, Elena;
Melchior, Linea C.;
Munch‐Petersen, Helga Fibiger;
Pai, Reetesh K.;
Schmuth, Matthias;
Gottschling, Hendrik;
Zschocke, Johannes;
Gallon, Richard;
Wimmer, Katharina

Publication type:

Article

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1145, doi. 10.1002/humu.24005

By:

Wimmer, Katharina;
Schamschula, Esther;
Wernstedt, Annekatrin;
Traunfellner, Pia;
Amberger, Albert;
Zschocke, Johannes;
Kroisel, Peter;
Chen, Yunjia;
Callens, Tom;
Messiaen, Ludwine

Publication type:

Article

panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.

Published in:

Human Mutation, 2017, v. 38, n. 7, p. 889, doi. 10.1002/humu.23237

By:

Povysil, Gundula;
Tzika, Antigoni;
Vogt, Julia;
Haunschmid, Verena;
Messiaen, Ludwine;
Zschocke, Johannes;
Klambauer, Günter;
Hochreiter, Sepp;
Wimmer, Katharina

Publication type:

Article

Review and update of SPRED1 mutations causing legius syndrome.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1538, doi. 10.1002/humu.22152

By:

Brems, Hilde;
Pasmant, Eric;
Van Minkelen, Rick;
Wimmer, Katharina;
Upadhyaya, Meena;
Legius, Eric;
Messiaen, Ludwine

Publication type:

Article

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 541, doi. 10.1002/humu.22013

By:

Roehl, Angelika C.;
Mussotter, Tanja;
Cooper, David N.;
Kluwe, Lan;
Wimmer, Katharina;
Högel, Josef;
Zetzmann, Marion;
Vogt, Julia;
Mautner, Victor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 372, doi. 10.1002/humu.21644

By:

Zickler, Antje M.;
Hampp, Stephanie;
Messiaen, Ludwine;
Bengesser, Kathrin;
Mussotter, Tanja;
Roehl, Angelika C.;
Wimmer, Katharina;
Mautner, Victor-Felix;
Kluwe, Lan;
Upadhyaya, Meena;
Pasmant, Eric;
Chuzhanova, Nadia;
Kestler, Hans A.;
Högel, Josef;
Legius, Eric;
Claes, Kathleen;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Published in:

Human Mutation, 2010, v. 31, n. 10, p. 1163, doi. 10.1002/humu.21340

By:

Roehl, Angelika C.;
Vogt, Julia;
Mussotter, Tanja;
Zickler, Antje N.;
Spöti, Helene;
Högel, Josef;
Chuzhanova, Nadia A.;
Wimmer, Katharina;
Kluwe, Lan;
Mautner, Victor-Felix;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 742, doi. 10.1002/humu.21254

By:

Bengesser, Kathrin;
Cooper, David N.;
Steinmann, Katharina;
Kluwe, Lan;
Chuzhanova, Nadia A.;
Wimmer, Katharina;
Tatagiba, Marcos;
Tinschert, Sigrid;
Mautner, Victor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Published in:

Human Mutation, 2010, v. 31, n. 5, p. 552, doi. 10.1002/humu.21223

By:

Ganster, Christina;
Wernstedt, Annekatrin;
Kehrer-Sawatzki, Hildegard;
Messiaen, Ludwine;
Schmidt, Konrad;
Rahner, Nils;
Heinimann, Karl;
Fonatsch, Christa;
Zschocke, Johannes;
Wimmer, Katharina

Publication type:

Article

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Published in:

Human Mutation, 2010, v. 31, n. 3, p. 325, doi. 10.1002/humu.21191

By:

Roehl, Angelika C.;
Cooper, David N.;
Kluwe, Lan;
Helbrich, Andreas;
Wimmer, Katharina;
Högel, Josef;
Mautner, Victor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 491, doi. 10.1002/humu.20103

By:

Zatkova, Andrea;
Messiaen, Ludwine;
Vandenbroucke, Ina;
Wieser, Rotraud;
Fonatsch, Christa;
Krainer, Adrian R.;
Wimmer, Katharina

Publication type:

Article

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Published in:

NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00603-z

By:

Gallon, Richard;
Brekelmans, Carlijn;
Martin, Marie;
Bours, Vincent;
Schamschula, Esther;
Amberger, Albert;
Muleris, Martine;
Colas, Chrystelle;
Dekervel, Jeroen;
De Hertogh, Gert;
Coupier, Jérôme;
Colleye, Orphal;
Sepulchre, Edith;
Burn, John;
Brems, Hilde;
Legius, Eric;
Wimmer, Katharina

Publication type:

Article

BRCA loss of function including BRCA1 DNA-methylation, but not BRCA-unrelated homologous recombination deficiency, is associated with platinum hypersensitivity in high-grade ovarian cancer.

Published in:

Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01781-0

By:

Fiegl, Heidelinde;
Schnaiter, Simon;
Reimer, Daniel U.;
Leitner, Katharina;
Nardelli, Petra;
Tsibulak, Irina;
Wieser, Verena;
Wimmer, Katharina;
Schamschula, Esther;
Marth, Christian;
Zeimet, Alain G.

Publication type:

Article

Seltene Tumordispositionssyndrome mit Manifestation im Kindesalter.

Published in:

Medizinische Genetik, 2017, v. 29, n. 3, p. 283, doi. 10.1007/s11825-017-0150-6

By:

Ripperger, Tim;
Wimmer, Katharina;
Kratz, Christian

Publication type:

Article

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

Published in:

Nature Genetics, 2006, v. 38, n. 12, p. 1419, doi. 10.1038/ng1920

By:

Raedt, Thomas De;
Stephens, Matthew;
Heyns, Ine;
Brems, Hilde;
Thijs, Daisy;
Messiaen, Ludwine;
Stephens, Karen;
Lazaro, Conxi;
Wimmer, Katharina;
Kehrer-Sawatzki, Hildegard;
Vidaud, Dominique;
Kluwe, Lan;
Marynen, Peter;
Legius, Eric

Publication type:

Article

GAB2 is a novel target of 11q amplification in AML/MDS.

Published in:

Genes, Chromosomes & Cancer, 2006, v. 45, n. 9, p. 798, doi. 10.1002/gcc.20344

By:

Andrea Zatkova;
Claudia Schoch;
Frank Speleman;
Bruce Poppe;
Christine Mannhalter;
Christa Fonatsch;
Katharina Wimmer

Publication type:

Article

Distinct sequences on 11q13.5 and 11q2324 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients.

Published in:

Genes, Chromosomes & Cancer, 2004, v. 39, n. 4, p. 263, doi. 10.1002/gcc.20002

By:

Andrea Zatkova;
Reinhard Ullmann;
Jean Marie Rouillard;
Barbara J. Lamb;
Rork Kuick;
Sam M. Hanash;
Susanne Schnittger;
Claudia Schoch;
Christa Fonatsch;
Katharina Wimmer

Publication type:

Article

Amplification and overexpression of the IGF2 regulator PLAG1 in hepatoblastoma.

Published in:

Genes, Chromosomes & Cancer, 2004, v. 39, n. 2, p. 126, doi. 10.1002/gcc.10307

By:

Andrea Zatkova;
Jean-Marie Rouillard;
Wolfgang Hartmann;
Barbara J. Lamb;
Rork Kuick;
Markus Eckart;
Dietrich von Schweinitz;
Arend Koch;
Christa Fonatsch;
Torsten Pietsch;
Sam M. Hanash;
Katharina Wimmer

Publication type:

Article

Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma.

Published in:

Genes, Chromosomes & Cancer, 2002, v. 33, n. 3, p. 285, doi. 10.1002/gcc.10030

By:

Wimmer, Katharina;
Zhu, Xiao-xiang;
Rouillard, Jean Marie;
Ambros, Peter F.;
Lamb, Barbara J.;
Kuick, Rork;
Eckart, Markus;
Weinhäusl, Andreas;
Fonatsch, Christa;
Hanash, Sam M.

Publication type:

Article

Demethylation of repetitive DNA sequences in neuroblastoma.

Published in:

Genes, Chromosomes & Cancer, 1996, v. 17, n. 4, p. 234, doi. 10.1002/(SICI)1098-2264(199612)17:4<234::AID-GCC5>3.0.CO;2-4

By:

Thoraval, Didier;
Asakawa, Jun-ichi;
Wimmer, Katharina;
Kuick, Rork;
Lamb, Barbara;
Richardson, Bruce;
Ambros, Peter;
Glover, Thomas;
Hanash, Samir

Publication type:

Article

Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.

Published in:

2010

By:

Harder, Anja;
Titze, Sabrina;
Herbst, Lena;
Harder, Thomas;
Guse, Katrin;
Tinschert, Sigrid;
Kaufmann, Dieter;
Rosenbaum, Thorsten;
Mautner, Victor Felix;
Windt, Elke;
Wahlländer-Danek, Ute;
Wimmer, Katharina;
Mundlos, Stefan;
Peters, Hartmut;
Wahlländer-Danek, Ute

Publication type:

journal article

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

Published in:

2016

By:

Baris, Hagit N.;
Barnes‐Kedar, Inbal;
Toledano, Helen;
Halpern, Marisa;
Hershkovitz, Dov;
Lossos, Alexander;
Lerer, Israela;
Peretz, Tamar;
Kariv, Revital;
Cohen, Shlomi;
Half, Elizabeth E.;
Magal, Nurit;
Drasinover, Valerie;
Wimmer, Katharina;
Goldberg, Yael;
Bercovich, Dani;
Levi, Zohar

Publication type:

journal article

AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS).

Published in:

2017

By:

Zeimet, Alain;
Mori, Harald;
Petru, Edgar;
Polterauer, Stephan;
Reinthaller, Alexander;
Schauer, Christian;
Scholl-Firon, Tonja;
Singer, Christian;
Wimmer, Katharina;
Zschocke, Johannes;
Marth, Christian;
Zeimet, Alain G

Publication type:

journal article

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Published in:

Human Genetics, 2008, v. 124, n. 2, p. 105, doi. 10.1007/s00439-008-0542-4

By:

Wimmer, Katharina;
Etzler, Julia

Publication type:

Article

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 311, doi. 10.1007/s004390000249

By:

Wimmer, Katharina;
Eckart, Markus;
Rehder, Helga;
Fonatsch, Christa

Publication type:

Article

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.

Published in:

Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101350

By:

Schamschula, Esther;
Kinzel, Miriam;
Wernstedt, Annekatrin;
Oberhuber, Klaus;
Gottschling, Hendrik;
Schnaiter, Simon;
Friedrichs, Nicolaus;
Merkelbach-Bruse, Sabine;
Zschocke, Johannes;
Gallon, Richard;
Wimmer, Katharina

Publication type:

Article

Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.

Published in:

Cancers, 2024, v. 16, n. 11, p. 2129, doi. 10.3390/cancers16112129

By:

Schnaiter, Simon;
Schamschula, Esther;
Laschtowiczka, Juliane;
Fiegl, Heidelinde;
Zschocke, Johannes;
Zeimet, Alain;
Wimmer, Katharina;
Reimer, Daniel

Publication type:

Article

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Published in:

Cancers, 2019, v. 11, n. 8, p. 1081, doi. 10.3390/cancers11081081

By:

Fernández-Rozadilla, Ceres;
Alvarez-Barona, Miriam;
Schamschula, Esther;
Bodo, Sahra;
Lopez-Novo, Anael;
Dacal, Andres;
Calviño-Costas, Consuelo;
Lancho, Angel;
Amigo, Jorge;
Bello, Xabier;
Cameselle-Teijeiro, Jose Manuel;
Carracedo, Angel;
Colas, Chrystelle;
Muleris, Martine;
Wimmer, Katharina;
Ruiz-Ponte, Clara

Publication type:

Article

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210

By:

Emmerich, Denise;
Zemojtel, Tomasz;
Hecht, Jochen;
Krawitz, Peter;
Spielmann, Malte;
Kühnisch, Jirko;
Kobus, Karolina;
Osswald, Monika;
Heinrich, Verena;
Berlien, Peter;
Müller, Ute;
Mautner, Victor-F;
Wimmer, Katharina;
Robinson, Peter N;
Vingron, Martin;
Tinschert, Sigrid;
Mundlos, Stefan;
Kolanczyk, Mateusz

Publication type:

Article

Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 1, doi. 10.1038/ejhg.2013.129

By:

Mayer, Karin;
Fonatsch, Christa;
Wimmer, Katharina;
van den Ouweland, Ans MW;
Maat-Kievit, Anneke JA

Publication type:

Article

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117

By:

Baas, Annette F;
Gabbett, Michael;
Rimac, Milan;
Kansikas, Minttu;
Raphael, Martine;
Nievelstein, Rutger AJ;
Nicholls, Wayne;
Offerhaus, Johan;
Bodmer, Danielle;
Wernstedt, Annekatrin;
Krabichler, Birgit;
Strasser, Ulrich;
Nyström, Minna;
Zschocke, Johannes;
Robertson, Stephen P;
van Haelst, Mieke M;
Wimmer, Katharina

Publication type:

Article

Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 3, p. 426, doi. 10.1111/ddg.15302_g

By:

Seidl‐Philipp, Magdalena;
Veyt, Nathalie;
Schnaiter, Simon;
Krogsdam, Anne;
Schwendinger, Simon;
Maertens, Ophélia;
Fauth, Christine;
Schmuth, Matthias;
Legius, Eric;
Wimmer, Katharina;
Brems, Hilde

Publication type:

Article

Gonadal and gonadosomatic mosaicism in NF1: report of two families.

Published in:

Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 3, p. 426, doi. 10.1111/ddg.15302

By:

Seidl‐Philipp, Magdalena;
Veyt, Nathalie;
Schnaiter, Simon;
Krogsdam, Anne;
Schwendinger, Simon;
Maertens, Ophélia;
Fauth, Christine;
Schmuth, Matthias;
Legius, Eric;
Wimmer, Katharina;
Brems, Hilde

Publication type:

Article

EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′ EPCAM deletion.

Published in:

Genes, Chromosomes & Cancer, 2013, v. 52, n. 9, p. 845, doi. 10.1002/gcc.22080

By:

Spaepen, Marijke;
Neven, Esther;
Sagaert, Xavier;
De Hertogh, Gert;
Beert, Eline;
Wimmer, Katharina;
Matthijs, Gert;
Legius, Eric;
Brems, Hilde

Publication type:

Article

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Published in:

Genes, Chromosomes & Cancer, 2013, v. 52, n. 7, p. 656, doi. 10.1002/gcc.22061

By:

Chmara, Magdalena;
Wernstedt, Annekatrin;
Wasag, Bartosz;
Peeters, Hilde;
Renard, Marleen;
Beert, Eline;
Brems, Hilde;
Giner, Tina;
Bieber, Imke;
Hamm, Henning;
Sciot, Raf;
Wimmer, Katharina;
Legius, Eric

Publication type:

Article

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

Published in:

Genes, Chromosomes & Cancer, 2012, v. 51, n. 9, p. 819, doi. 10.1002/gcc.21966

By:

Wernstedt, Annekatrin;
Valtorta, Emanuele;
Armelao, Franco;
Togni, Roberto;
Girlando, Salvatore;
Baudis, Michael;
Heinimann, Karl;
Messiaen, Ludwine;
Staehli, Noemie;
Zschocke, Johannes;
Marra, Giancarlo;
Wimmer, Katharina

Publication type:

Article

AML/MDS with 11q/ MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes.

Published in:

Genes, Chromosomes & Cancer, 2009, v. 48, n. 6, p. 510, doi. 10.1002/gcc.20658

By:

Zatkova, Andrea;
Merk, Sylvia;
Wendehack, Melanie;
Bilban, Martin;
Muzik, Eva Maria;
Muradyan, Artur;
Haferlach, Claudia;
Haferlach, Torsten;
Wimmer, Katharina;
Fonatsch, Christa;
Ullmann, Reinhard

Publication type:

Article

A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.

Published in:

Clinical Chemistry, 2024, v. 70, n. 5, p. 737, doi. 10.1093/clinchem/hvae027

By:

Marín, Fátima;
Canet-Hermida, Júlia;
Bianchi, Vanessa;
Chung, Jiil;
Wimmer, Katharina;
Foulkes, William;
Pérez-Alonso, Vanesa;
Domínguez-Pinilla, Nerea;
Sábado, Constantino;
Vázquez-Gómez, Felisa;
Molinés, Antonio;
Fioravantti, Victoria;
Carrasco, Estela;
Stengs, Lucie;
Edwards, Melissa;
Negm, Logine;
Das, Anirban;
Aronson, Melyssa;
Pastor, Ángela;
Rueda, Daniel

Publication type:

Article

Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C<sub>4</sub>CMMRD), Paris, France, November 16th 2022.

Published in:

Familial Cancer, 2024, v. 23, n. 4, p. 447, doi. 10.1007/s10689-024-00403-1

By:

Guerrini-Rousseau, Léa;
Gallon, Richard;
Pineda, Marta;
Brugières, Laurence;
Baert-Desurmont, Stéphanie;
Corsini, Carole;
Dangouloff-Ros, Volodia;
Gorris, Mark A. J.;
Haberler, Christine;
Hoarau, Pauline;
Jongmans, Marjolijn C.;
Kloor, Matthias;
Loeffen, Jan;
Rigaud, Charlotte;
Robbe, Julie;
Vibert, Roseline;
Weijers, Dilys;
Wimmer, Katharina;
Colas, Chrystelle

Publication type:

Article

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

Published in:

Familial Cancer, 2019, v. 18, n. 2, p. 253, doi. 10.1007/s10689-018-0111-5

By:

Obermair, Florian;
Rammer, Melanie;
Burghofer, Jonathan;
Malli, Theodora;
Schossig, Anna;
Wimmer, Katharina;
Kranewitter, Wolfgang;
Mayrbaeurl, Beate;
Duba, Hans-Christoph;
Webersinke, Gerald

Publication type:

Article

A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.

Published in:

Familial Cancer, 2017, v. 16, n. 1, p. 67, doi. 10.1007/s10689-016-9925-1

By:

Wimmer, Katharina;
Beilken, Andreas;
Nustede, Rainer;
Ripperger, Tim;
Lamottke, Britta;
Ure, Benno;
Steinmann, Diana;
Reineke-Plaass, Tanja;
Lehmann, Ulrich;
Zschocke, Johannes;
Valle, Laura;
Fauth, Christine;
Kratz, Christian

Publication type:

Article

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data.

Published in:

Nature Communications, 2019, p. 1, doi. 10.1038/s41467-019-13397-7

By:

Li Fang;
Kao, Charlly;
Gonzalez, Michael V.;
Mafra, Fernanda A.;
Pellegrino da Silva, Renata;
Mingyao Li;
Wenzel, Sören-Sebastian;
Wimmer, Katharina;
Hakonarson, Hakon;
Kai Wang

Publication type:

Article

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Published in:

Genome Biology, 2014, v. 15, n. 6, p. 1, doi. 10.1186/gb-2014-15-6-r80

By:

Vogt, Julia;
Bengesser, Kathrin;
Claes, Kathleen B. M.;
Wimmer, Katharina;
Mautner, Victor-Felix;
van Minkelen, Rick;
Legius, Eric;
Brems, Hilde;
Upadhyaya, Meena;
Högel, Josef;
Lazaro, Conxi;
Rosenbaum, Thorsten;
Bammert, Simone;
Messiaen, Ludwine;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Neurofibromatosis 1: A Novel NF1 Mutation in an 11-Year-Old Girl With a Giant Cell Granuloma.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 5, p. 371, doi. 10.1177/08830738030180051901

By:

Krammer, Uta;
Wimmer, Katharina;
Wiesbauer, Peter;
Rasse, Michael;
Lang, Susanna;
Müllner-Eidenböck, Andrea;
Frisch, Herwig

Publication type:

Article

Osteoclast and osteoblast response to strontium-doped struvite coatings on titanium for improved bone integration.

Published in:

Biomedical Engineering / Biomedizinische Technik, 2020, v. 65, n. 5, p. 631, doi. 10.1515/bmt-2019-0265

By:

Moseke, Claus;
Wimmer, Katharina;
Meininger, Markus;
Zerweck, Julia;
Wolf-Brandstetter, Cornelia;
Gbureck, Uwe;
Ewald, Andrea

Publication type:

Article

Mapping of leukaemia-associated breakpoints in chromosome band 3q21 using a newly established PAC contig.

Published in:

British Journal of Haematology, 2000, v. 110, n. 2, p. 343, doi. 10.1046/j.1365-2141.2000.02192.x

By:

Wieser, Rotraud;
Volz, Armin;
Schnittger, Susanne;
Jäger, Ulrich;
Grüner, Helga;
Meran, Johannes G.;
Wimmer, Katharina;
Ziegler, andreas;
Fonatsch, Christa

Publication type:

Article

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 90, doi. 10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J

By:

Wimmer, Katharina;
Eckart, Markus;
Stadler, Peter F.;
Rehder, Helga;
Fonatsch, Christa

Publication type:

Article

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II

Published in:

Human Genetics, 2023, v. 142, n. 7, p. 849, doi. 10.1007/s00439-023-02555-z

By:

Koczkowska, Magdalena;
Chen, Yunjia;
Xie, Jing;
Callens, Tom;
Gomes, Alicia;
Wimmer, Katharina;
Messiaen, Ludwine M.

Publication type:

Article

Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.

Published in:

Leukemia & Lymphoma, 2023, v. 64, n. 1, p. 217, doi. 10.1080/10428194.2022.2131412

By:

Gallon, Richard;
Phelps, Rachel;
Betts, Leigh;
Hayes, Christine;
Masic, Dino;
Irving, Julie A. E.;
McAnulty, Ciaron;
Saha, Vaskar;
Vora, Ajay;
Wimmer, Katharina;
Motwani, Jayashree;
Macartney, Christine;
Burn, John;
Jackson, Michael S.;
Moorman, Anthony V.;
Santibanez-Koref, Mauro

Publication type:

Article

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion.

Published in:

PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002371

By:

Wimmer, Katharina;
Callens, Tom;
Wernstedt, Annekatrin;
Messiaen, Ludwine

Publication type:

Article