Works by Brems, Hilde

Results: 50

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Published in:

2016

By:

Kjell, Van;
Hilde, Brems;
Eric, Legius;
Johan, Lammens;
Armand, Laumen;
Kjell, Van Royen;
Van Royen, Kjell;
Brems, Hilde;
Legius, Eric;
Lammens, Johan;
Laumen, Armand

Publication type:

journal article

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site.

Published in:

Human Mutation, 2019, v. 40, n. 10, p. 1760, doi. 10.1002/humu.23783

By:

Brekelmans, Carlijn;
Hollants, Silke;
Groote, Caroline;
Sohier, Natalie;
Maréchal, Marina;
Geris, Liesbet;
Luyten, Frank P.;
Ginckels, Lieve;
Sciot, Raf;
Ravel, Thomy;
Smet, Luc;
Lammens, Johan;
Legius, Eric;
Brems, Hilde

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

Legius syndrome in fourteen families.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404

By:

Denayer, Ellen;
Chmara, Magdalena;
Brems, Hilde;
Kievit, Anneke Maat;
van Bever, Yolande;
Van den Ouweland, Ans MW;
Van Minkelen, Rick;
de Goede-Bolder, Arja;
Oostenbrink, Rianne;
Lakeman, Phillis;
Beert, Eline;
Ishizaki, Takuma;
Mori, Tomoaki;
Keymolen, Kathelijn;
Van den Ende, Jenneke;
Mangold, Elisabeth;
Peltonen, Sirkku;
Brice, Glen;
Rankin, Julia;
Van Spaendonck-Zwarts, Karin Y

Publication type:

Article

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1030, doi. 10.1002/humu.20389

By:

Maertens, Ophélia;
Brems, Hilde;
Vandesompele, Jo;
De Raedt, Thomas;
Heyns, Ine;
Rosenbaum, Thorsten;
De Schepper, Sofie;
De Paepe, Anne;
Mortier, Geert;
Janssens, Sandra;
Speleman, Frank;
Legius, Eric;
Messiaen, Ludwine

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

Erratum to: Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Published in:

2017

By:

Van Royen, Kjell;
Laumen, Armand;
Brems, Hilde;
Legius, Eric;
Lammens, Johan

Publication type:

journal article

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 572, doi. 10.1038/sj.ejhg.5202002

By:

Steinmann, Katharina;
Kluwe, Lan;
Cooper, David N.;
Brems, Hilde;
De Raedt, Thomas;
Legius, Eric;
Mautner, Viktor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype.

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1120, doi. 10.1038/ng2113

By:

Brems, Hilde;
Chmara, Magdalena;
Sahbatou, Mourad;
Denayer, Ellen;
Taniguchi, Koji;
Kato, Reiko;
Somers, Riet;
Messiaen, Ludwine;
De Schepper, Sofie;
Fryns, Jean-Pierre;
Cools, Jan;
Marynen, Peter;
Thomas, Gilles;
Yoshimura, Akihiko;
Legius, Eric

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

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non‐microdeletion patients.

Published in:

Genes, Chromosomes & Cancer, 2006, v. 45, n. 10, p. 893, doi. 10.1002/gcc.20353

By:

Thomas De Raedt;
Ophélia Maertens;
Magdalena Chmara;
Hilde Brems;
Ine Heyns;
Raf Sciot;
Elisa Majounie;
Meena Upadhyaya;
Sofie De Schepper;
Frank Speleman;
Ludwine Messiaen;
Joris Robert Vermeesch;
Eric Legius

Publication type:

Article

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.

Published in:

Skin Health & Disease, 2024, v. 4, n. 5, p. 1, doi. 10.1002/ski2.394

By:

Lovatt, Charlotte;
Williams, Megan;
Gibbs, Alex;
Mukhtar, Abdullahi;
Morgan, Huw J.;
Lanfredini, Simone;
Olivero, Carlotta;
Spurlock, Gill;
Davies, Sally;
Philpott, Charlotte;
Tovell, Hannah;
Turnpenny, Peter;
Baban, Dilair;
Knight, Sam;
Brems, Hilde;
Sampson, Julian R.;
Legius, Eric;
Upadhyaya, Meena;
Patel, Girish K.

Publication type:

Article

Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a <i>Drosophila</i> Model for Intellectual Disability.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081791

By:

Vandewalle, Joke;
Langen, Marion;
Zschaetzsch, Marlen;
Nijhof, Bonnie;
Kramer, Jamie M.;
Brems, Hilde;
Bauters, Marijke;
Lauwers, Elsa;
Srahna, Mohammed;
Marynen, Peter;
Verstreken, Patrik;
Schenck, Annette;
Hassan, Bassem A.;
Froyen, Guy

Publication type:

Article

Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism.

Published in:

Child's Nervous System, 2020, v. 36, n. 10, p. 2285, doi. 10.1007/s00381-020-04771-8

By:

Legius, Eric;
Brems, Hilde

Publication type:

Article

Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.

Published in:

Human Reproduction, 2023, v. 38, n. 3, p. 511, doi. 10.1093/humrep/deac273

By:

Tsuiko, Olga;
Ayeb, Yasmine El;
Jatsenko, Tatjana;
Allemeersch, Joke;
Melotte, Cindy;
Ding, Jia;
Debrock, Sophie;
Peeraer, Karen;
Vanhie, Arne;
Leener, Anne De;
Pirard, Céline;
Kluyskens, Candice;
Denayer, Ellen;
Legius, Eric;
Vermeesch, Joris Robert;
Brems, Hilde;
Dimitriadou, Eftychia

Publication type:

Article

Impaired instrumental learning in Spred1<sup>−/−</sup> mice, a model for a rare RASopathy.

Published in:

Genes, Brain & Behavior, 2021, v. 20, n. 5, p. 1, doi. 10.1111/gbb.12727

By:

Borrie, Sarah C.;
Horner, Alexa E.;
Yoshimura, Akihiko;
Legius, Eric;
Kopanitsa, Maksym V.;
Brems, Hilde

Publication type:

Article

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules.

Published in:

Clinical Genetics, 2020, v. 97, n. 2, p. 264, doi. 10.1111/cge.13649

By:

Castellanos, Elisabeth;
Rosas, Inma;
Negro, Alex;
Gel, Bernat;
Alibés, Andreu;
Baena, Neus;
Pineda, Mercè;
Pi, Graciela;
Pintos, Guillem;
Salvador, Hector;
Lázaro, Conxi;
Blanco, Ignacio;
Vilageliu, Lluïsa;
Brems, Hilde;
Grinberg, Daniel;
Legius, Eric;
Serra, Eduard

Publication type:

Article

Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families.

Published in:

European Journal of Endocrinology, 2023, v. 189, n. 3, p. 402, doi. 10.1093/ejendo/lvad126

By:

Vuylsteke, Axelle;
Hannes, Laurens;
Brems, Hilde;
Devis, Koen;
Renard, Marleen;
Uyttebroeck, Anne;
Legius, Eric;
Decallonne, Brigitte

Publication type:

Article

A PATIENT WITH NEONATAL CHOLESTASIS.

Published in:

Journal of Mother & Child, 2020, v. 24, n. 4, p. 31, doi. 10.34763/jmotherandchild.20202404.d-20-00012

By:

Claeys, Kristl G.;
Breysem, Luc;
Legius, Eric;
Brems, Hilde;
Cassiman, David;
Moisse, Matthieu;
Vermeersch, Pieter;
Levtchenko, Elena;
Jaeken, Jaak

Publication type:

Article

Legius Syndrome, an Update. Molecular Pathology of Mutations in SPRED1.

Published in:

Keio Journal of Medicine, 2013, v. 62, n. 4, p. 107, doi. 10.2302/kjm.2013-0002-RE

By:

Brems, Hilde;
Legius, Eric

Publication type:

Article

Recombination hotspot in NF1 microdeletion patients.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1387, doi. 10.1093/hmg/10.13.1387

By:

López-Correa, Catalina;
Dorschner, Michael;
Brems, Hilde;
Lázaro, Conxi;
Clementi, Maurizio;
Upadhyaya, Meena;
Dooijes, Dennis;
Moog, Ute;
Kehrer-Sawatzki, Hildegard;
Rutkowski, J. Lynn;
Fryns, Jean-Pierre;
Marynen, Peter;
Stephens, Karen;
Legius, Eric

Publication type:

Article

Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour.

Published in:

Cancers, 2025, v. 17, n. 8, p. 1306, doi. 10.3390/cancers17081306

By:

Iasella, Maria Pia;
Ruttens, Dries;
Hompes, Daphne;
Vandecaveye, Vincent;
Sciot, Raf;
Deroose, Christophe;
Douchy, Thomas;
Decramer, Thomas;
Jacobs, Sandra;
Denayer, Ellen;
Van Calenbergh, Frank;
Legius, Eric;
Brems, Hilde

Publication type:

Article

Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).

Published in:

Cancers, 2024, v. 16, n. 5, p. 953, doi. 10.3390/cancers16050953

By:

Hendricks, Linda A. J.;
Verbeek, Katja C. J.;
Schuurs-Hoeijmakers, Janneke H. M.;
Mensenkamp, Arjen R.;
Brems, Hilde;
de Putter, Robin;
Anastasiadou, Violetta C.;
Villy, Marie-Charlotte;
Jahn, Arne;
Steinke-Lange, Verena;
Baldassarri, Margherita;
Irmejs, Arvids;
de Jong, Mirjam M.;
Links, Thera P.;
Leter, Edward M.;
Bosch, Daniëlle G. M.;
Høberg-Vetti, Hildegunn;
Tveit Haavind, Marianne;
Jørgensen, Kjersti;
Mæhle, Lovise

Publication type:

Article

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 618, doi. 10.1038/ejhg.2011.275

By:

Babovic-Vuksanovic, D;
Messiaen, Ludwine;
Nagel, Christoph;
Brems, Hilde;
Scheithauer, Bernd;
Denayer, Ellen;
Mao, Rong;
Sciot, Raf;
Janowski, Karen M;
Schuhmann, Martin U;
Claes, Kathleen;
Beert, Eline;
Garrity, James A;
Spinner, Robert J;
Stemmer-Rachamimov, Anat;
Gavrilova, Ralitza;
Van Calenbergh, Frank;
Mautner, Victor;
Legius, Eric

Publication type:

Article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 4, p. 411, doi. 10.1038/ejhg.2011.207

By:

Thomas, Laura;
Spurlock, Gill;
Eudall, Claire;
Thomas, Nick S;
Mort, Matthew;
Hamby, Stephen E;
Chuzhanova, Nadia;
Brems, Hilde;
Legius, Eric;
Cooper, David N;
Upadhyaya, Meena

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

Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor.

Published in:

Genes, Chromosomes & Cancer, 2021, v. 60, n. 4, p. 239, doi. 10.1002/gcc.22923

By:

Vanden Bempt, Isabelle;
Vander Borght, Sara;
Sciot, Raf;
Spans, Lien;
Claerhout, Sofie;
Brems, Hilde;
Lehnert, Stefan;
Dehaspe, Luc;
Fransis, Sabine;
Neuville, Bart;
Topal, Baki;
Schöffski, Patrick;
Legius, Eric;
Debiec‐Rychter, Maria

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

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.

Published in:

Genes, Chromosomes & Cancer, 2012, v. 51, n. 9, p. 852, doi. 10.1002/gcc.21969

By:

Beert, Eline;
Brems, Hilde;
Renard, Marleen;
Ferreiro, Julio Finalet;
Melotte, Cindy;
Thoelen, Reinhilde;
De Wever, Ivo;
Sciot, Raf;
Legius, Eric;
Debiec-Rychter, Maria

Publication type:

Article

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Published in:

Genes, Chromosomes & Cancer, 2012, v. 51, n. 5, p. 429, doi. 10.1002/gcc.21928

By:

Stewart, Douglas R.;
Pemov, Alexander;
Van Loo, Peter;
Beert, Eline;
Brems, Hilde;
Sciot, Raf;
Claes, Kathleen;
Pak, Evgenia;
Dutra, Amalia;
Richard Lee, Chyi-Chia;
Legius, Eric

Publication type:

Article

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.

Published in:

Genes, Chromosomes & Cancer, 2011, v. 50, n. 12, p. 1021, doi. 10.1002/gcc.20921

By:

Beert, Eline;
Brems, Hilde;
Daniëls, Bruno;
De Wever, Ivo;
Van Calenbergh, Frank;
Schoenaers, Joseph;
Debiec-Rychter, Maria;
Gevaert, Olivier;
De Raedt, Thomas;
Van Den Bruel, Annick;
de Ravel, Thomy;
Cichowski, Karen;
Kluwe, Lan;
Mautner, Victor;
Sciot, Raf;
Legius, Eric

Publication type:

Article

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders.

Published in:

Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00458-2

By:

Borrie, Sarah C.;
Plasschaert, Ellen;
Callaerts-Vegh, Zsuzsanna;
Yoshimura, Akihiko;
D'Hooge, Rudi;
Elgersma, Ype;
Kushner, Steven A.;
Legius, Eric;
Brems, Hilde

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

Clinical and Mutational Spectrum of Neurofibromatosis Type 1--like Syndrome.

Published in:

JAMA: Journal of the American Medical Association, 2009, v. 302, n. 19, p. 2111, doi. 10.1001/jama.2009.1663

By:

Messiaen, Ludwine;
Suxia Yao;
Brems, Hilde;
Callens, Tom;
Sathienkijkanchai, Achara;
Denayer, Ellen;
Spencer, Emily;
Arn, Pamela;
Babovic-Vuksanovic, Dusica;
Bay, Carolyn;
Bobele, Gary;
Cohen, Bruce H.;
Escobar, Luis;
Eunpu, Deborah;
Grebe, Theresa;
Greenstein, Robert;
Hachen, Rachel;
Irons, Mira;
Kronn, David;
Lemire, Edmond

Publication type:

Article

An update on congenital melanocytic nevus syndrome: A case report and literature review.

Published in:

Journal of Cutaneous Pathology, 2021, v. 48, n. 12, p. 1497, doi. 10.1111/cup.14097

By:

Abdulmajid, Lilaf;
Bosisio, Francesca Maria;
Brems, Hilde;
De Vlieger, Greet;
Garmyn, Marjan;
Segers, Heidi;
Demaerel, Philippe;
Segers, Katarina;
Jansen, Katrien;
Lagae, Lieven;
Verheecke, Magali

Publication type:

Article

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4036, doi. 10.3390/ijms23074036

By:

Beyens, Aude;
Dequeker, Laure;
Brems, Hilde;
Janssens, Sandra;
Syryn, Hannes;
D'Hooghe, Anne;
De Paepe, Pascale;
Vanwalleghem, Lieve;
Stockman, Annelies;
Vankwikelberge, Elena;
De Schepper, Sofie;
Goeteyn, Marleen;
Delbeke, Patricia;
Callewaert, Bert

Publication type:

Article

Capillary malformations in a child caused by a novel HRAS mutation.

Published in:

Pediatric Dermatology, 2024, v. 41, n. 2, p. 289, doi. 10.1111/pde.15458

By:

van Gysel, Dirk;
de Maeseneer, Hannelore;
Legius, Eric;
Brems, Hilde

Publication type:

Article

Congenital enlargement of toes.

Published in:

Pediatric Dermatology, 2020, v. 37, n. 5, p. 945, doi. 10.1111/pde.14309

By:

Jordens, Quentin;
De Maeseneer, Hannelore;
Brems, Hilde;
Van Gysel, Dirk

Publication type:

Article

Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia.

Published in:

Pediatric Dermatology, 2020, v. 37, n. 5, p. 890, doi. 10.1111/pde.14254

By:

Mestach, Lien;
Polubothu, Satyamaanasa;
Calder, Alistair;
Denayer, Ellen;
Gholam, Karolina;
Legius, Eric;
Levtchenko, Elena;
Van Laethem, An;
Brems, Hilde;
Kinsler, Veronica A.;
Morren, Marie‐Anne

Publication type:

Article

Phosphatidylinositol‐4,5‐bisphosphate 3‐kinase catalytic subunit alpha (PIK3CA)‐related overgrowth spectrum: A brief report.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 3, p. e186, doi. 10.1111/pde.13441

By:

Denorme, Pieter;
Morren, Marie‐Anne;
Hollants, Silke;
Spaepen, Marijke;
Suaer, Kate;
Zutterman, Nele;
Labarque, Veerle;
Legius, Eric;
Brems, Hilde

Publication type:

Article

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4

By:

Correa, Catalina López;
Brems, Hilde;
Lázaro, Conxi;
Estivill, Xavier;
Clementi, Maurizio;
Mason, Silvia;
Rutkowski, J. Lynn;
Marynen, Peter;
Legius, Eric

Publication type:

Article

NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.

Published in:

Acta Neuropathologica, 2020, v. 139, n. 1, p. 157, doi. 10.1007/s00401-019-02086-w

By:

Yu, Yanan;
Choi, Kwangmin;
Wu, Jianqiang;
Andreassen, Paul R.;
Dexheimer, Phillip J.;
Keddache, Mehdi;
Brems, Hilde;
Spinner, Robert J.;
Cancelas, Jose A.;
Martin, Lisa J.;
Wallace, Margaret R.;
Legius, Eric;
Vogel, Kristine S.;
Ratner, Nancy

Publication type:

Article

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

Published in:

Nature, 2014, v. 514, n. 7521, p. 247, doi. 10.1038/nature13561

By:

De Raedt, Thomas;
Cichowski, Karen;
Clapp, Wade;
Bradner, James;
Upadhyaya, Meena;
Legius, Eric;
Beert, Eline;
Pasmant, Eric;
Luscan, Armelle;
Ortonne, Nicolas;
Vidaud, Michel;
Brems, Hilde;
Helin, Kristian;
Hornick, Jason L.;
Mautner, Victor;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas.

Published in:

Neuro-Oncology, 2019, v. 21, n. 8, p. 981, doi. 10.1093/neuonc/noz028

By:

Pemov, Alexander;
Hansen, Nancy F;
Sindiri, Sivasish;
Patidar, Rajesh;
Higham, Christine S;
Dombi, Eva;
Miettinen, Markku M;
Fetsch, Patricia;
Brems, Hilde;
Chandrasekharappa, Settara C;
Jones, Kristine;
Zhu, Bin;
Wei, Jun S;
Program, National Intramural Sequencing Center (NISC) Comparative Sequencing;
Laboratory, National Cancer Institute (NCI) Division of Cancer Epidemiology and Genetics (DCEG) Cancer Genomics Research;
Mullikin, James C;
Wallace, Margaret R;
Khan, Javed;
Legius, Eric;
Widemann, Brigitte C

Publication type:

Article

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors.

Published in:

Neuro-Oncology, 2018, v. 20, n. 6, p. 818, doi. 10.1093/neuonc/noy013

By:

Higham, Christine S.;
Dombi, Eva;
Rogiers, Aljosja;
Bhaumik, Sucharita;
Pans, Steven;
Connor, Steve E. J.;
Miettinen, Markku;
Sciot, Raf;
Tirabosco, Roberto;
Brems, Hilde;
Baldwin, Andrea;
Legius, Eric;
Widemann, Brigitte C.;
Ferner, Rosalie E.

Publication type:

Article

Multitumor Case Series of Germline BRCA1, BRCA2 and CHEK2-Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors.

Published in:

Current Oncology, 2021, v. 28, n. 5, p. 3227, doi. 10.3390/curroncol28050280

By:

Kinget, Lisa;
Bechter, Oliver;
Punie, Kevin;
Debruyne, Philip R.;
Brems, Hilde;
Clement, Paul;
Roussel, Eduard;
Van Herck, Yannick;
Albersen, Maarten;
Baldewijns, Marcella;
Schöffski, Patrick;
Beuselinck, Benoit

Publication type:

Article

Spred1 Is Required for Synaptic Plasticity and Hippocampus- Dependent Learning.

Published in:

Journal of Neuroscience, 2008, v. 28, n. 53, p. 14443, doi. 10.1523/JNEUROSCI.4698-08.2008

By:

Denayer, Ellen;
Ahmed, Tariq;
Brems, Hilde;
Van Woerden, Geeske;
Borgesius, Nils Zuiderveen;
Callaerts-Vegh, Zsuzsanna;
Yoshimura, Akihiko;
Hartmann, Dieter;
Elgersma, Ype;
D'Hooge, Rudi;
Legius, Eric;
Balschun, Detlef

Publication type:

Article

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation.

Published in:

2015

By:

Farschtschi, Said;
Mautner, Victor-Felix;
Hollants, Silke;
Hagel, Christian;
Spaepen, Marijke;
Schulte, Christoph;
Legius, Eric;
Brems, Hilde

Publication type:

Case Study