Works matching AU Legius, Eric

Results: 116

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

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

Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathways.

Published in:

Human Mutation, 2009, v. 30, n. 12, p. 1693, doi. 10.1002/humu.21135

By:

Leunen, Karin;
Gevaert, Olivier;
Daemen, Anneleen;
Vanspauwen, Vanessa;
Michils, Geneviève;
De Moor, Bart;
Moerman, Philippe;
Vergote, Ignace;
Legius, Eric

Publication type:

Article

Neurofibromatosis type 1 antisense therapy on the horizon?

Published in:

Human Mutation, 2009, v. 30, n. 3, p. vii, doi. 10.1002/humu.20998

By:

Legius, Eric

Publication type:

Article

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Published in:

Human Mutation, 2008, v. 29, n. 2, p. 232, doi. 10.1002/humu.20616

By:

Denayer, Ellen;
Parret, Annabel;
Chmara, Magdalena;
Schubbert, Suzanne;
Vogels, Annick;
Devriendt, Koen;
Frijns, Jean-Pierre;
Rybin, Vladimir;
de Ravel, Thomy J.;
Shannon, Kevin;
Cools, Jan;
Scheffzek, Klaus;
Legius, Eric

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

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): A Belgian study.

Published in:

Human Mutation, 2005, v. 25, n. 2, p. 125, doi. 10.1002/humu.20122

By:

Michils, Geneviève;
Tejpar, Sabine;
Thoelen, Reinhilde;
Van Cutsem, Eric;
Vermeesch, Joris Robert;
Fryns, Jean-Pierre;
Legius, Eric;
Matthijs, Gert

Publication type:

Article

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).

Published in:

Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298

By:

Albuisson, Juliette;
Pêcheux, Chistophe;
Carel, Jean-Claude;
Lacombe, Didier;
Leheup, Bruno;
Lapuzina, Pablo;
Bouchard, Philippe;
Legius, Eric;
Matthijs, Gert;
Wasniewska, Malgorzata;
Delpech, Marc;
Young, Jacques;
Hardelin, Jean-Pierre;
Dodé, Catherine

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

Ophthalmological assessment of children with neurofibromatosis type 1.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 10, p. 1327, doi. 10.1007/s00431-013-2035-2

By:

Cassiman, Catherine;
Legius, Eric;
Spileers, Werner;
Casteels, Ingele

Publication type:

Article

What’s new in the neuro-cardio-facial-cutaneous syndromes?

Published in:

European Journal of Pediatrics, 2007, v. 166, n. 11, p. 1091, doi. 10.1007/s00431-007-0535-7

By:

Denayer, Ellen;
Legius, Eric

Publication type:

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

CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269

By:

Kohl, Susanne;
Varsanyi, Balazs;
Antunes, Gesine Abadin;
Baumann, Britta;
Hoyng, Carel B.;
Jägle, Herbert;
Rosenberg, Thomas;
Kellner, Ulrich;
Lorenz, Birgit;
Salati, Roberto;
Jurklies, Bernhard;
Farkas, Agnes;
Andreasson, Sten;
Weleber, Richard G.;
Jacobson, Samuel G.;
Rudolph, Günther;
Castellan, Claudio;
Dollfus, Helene;
Legius, Eric;
Anastasi, Mario

Publication type:

Article

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201312

By:

van Esch, Hilde;
Dom, Rene;
Bex, Dorien;
Salden, Ivo;
Caeckebeke, Jo;
Wibail, Alain;
Borghgraef, Martine;
Legius, Eric;
Fryns, Jean-Pierre;
Matthijs, Gert

Publication type:

Article

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 1, p. 85, doi. 10.1038/sj.ejhg.5200915

By:

Schollen, Els;
Matthijs, Gert;
Gewillig, Marc;
Fryns, Jean-Pierre;
Legius, Eric

Publication type:

Article

Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutationi detection (EMD).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 9, p. 505, doi. 10.1038/sj.ejhg.5200825

By:

Michils, Genevieve;
Tejpar, Sabine;
Fryns, Jean-Pierre;
Legius, Eric;
Van Cutsem, Eric;
Cassiman, Jean-Jacques;
Matthijs, Gert

Publication type:

Article

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 367, doi. 10.1038/sj.ejhg.5200470

By:

Schollen, Els;
Kjaergaard, Susanne;
Legius, Eric;
Schwartz, Marianne;
Matthijs, Gert

Publication type:

Article

Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 2, p. 130, doi. 10.1038/sj.ejhg.5200438

By:

Decruyenaere, Marleen;
Evers-Kiebooms, Gerry;
Denayer, Lieve;
Welkenhuysen, Myriam;
Claes, Erna;
Legius, Eric;
Demyttenaere, Koen

Publication type:

Article

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 1, p. 32, doi. 10.1038/sj.ejhg.5200150

By:

Legius, Eric;
Schollen, Els;
Matthijs, Gert;
Fryns, Jean-Pierre

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

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

Published in:

Nature Genetics, 2003, v. 33, n. 2, p. 145, doi. 10.1038/ng1087

By:

Qing Zhang;
Baohui Zhao;
Wei Li;
Oiso, Naoki;
Novak, Edward K.;
Rusiniak, Michael E.;
Gautam, Rashi;
Chintala, Sreenivasulu;
O'Brien, Edward P.;
Yuke Zhang;
Roe, Bruce A.;
Elliott, Rosemary W.;
Eicher, Eva M.;
Ping Liang;
Kratz, Christian;
Legius, Eric;
Spritz, Richard A.;
O'Sullivan, T. Norene;
Copeland, Neal G.

Publication type:

Article

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 94, doi. 10.1038/12699

By:

Hurvitz, Jennifer R.;
Suwairi, Wafaa M.;
Van Hul, Wim;
El-Shanti, Hatem;
Superti-Furga, Andrea;
Roudier, Jean;
Holderbaum, Daniel;
Pauli, Richard M.;
Herd, J. Kenneth;
Hul, Els Van;
Rezai-Delui, Hossien;
Legius, Eric;
Le Merrer, Martine;
Al-Alami, Jamil;
Bahabri, Sultan A.;
Warman, Matthew L.

Publication type:

Article

Cardiac involvement and CTG expansion in myotonic dystrophy.

Published in:

Journal of Neurology, 2002, v. 249, n. 6, p. 693, doi. 10.1007/s00415-002-0692-6

By:

Merlevede, Karen;
Vermander, Dimitri;
Theys, Paul;
Legius, Eric;
Ector, Hugo;
Robberecht, Wim

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

Germline mutations in NF1 patients with malignancies.

Published in:

Genes, Chromosomes & Cancer, 1999, v. 26, n. 4, p. 376, doi. 10.1002/(SICI)1098-2264(199912)26:4<376::AID-GCC13>3.0.CO;2-O

By:

Wu, Rina;
López-Correa, Catalina;
Rutkowski, J. Lynn;
Baumbach, Lisa L.;
Glover, Thomas W.;
Legius, Eric

Publication type:

Article

TP53 mutations are frequent in malignant NFI tumors.

Published in:

Genes, Chromosomes & Cancer, 1994, v. 10, n. 4, p. 250, doi. 10.1002/gcc.2870100405

By:

Legius, Eric;
Dierick, Herman;
Wu, Rina;
Hall, Bryan K.;
Marynen, Peter;
Cassiman, Jean-Jacques;
Glover, Thomas W.

Publication type:

Article

Molecular and cytogenetic analysis of tumors in von recklinghausen neurofibromatosis.

Published in:

Genes, Chromosomes & Cancer, 1991, v. 3, n. 1, p. 62, doi. 10.1002/gcc.2870030111

By:

Glover, Thomas W.;
Stein, Constance K.;
Legius, Eric;
Andersen, Lone B.;
Brereton, Anne;
Johnson, Susan

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

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction.

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038579

By:

Izzi, Benedetta;
Francois, Inge;
Labarque, Veerle;
Thys, Chantal;
Wittevrongel, Christine;
Devriendt, Koen;
Legius, Eric;
Van den Bruel, Annick;
D'Hooghe, Marc;
Lambrechts, Diether;
De Zegher, Francis;
Van Geet, Chris;
Freson, Kathleen

Publication type:

Article

Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation.

Published in:

Pediatric Blood & Cancer, 2007, v. 48, n. 1, p. 101, doi. 10.1002/pbc.20527

By:

Chantrain, Christophe F.;
Jijon, Priscilla;
De Raedt, Thomas;
Vermylen, Christiane;
Poirel, Hélène A.;
Legius, Eric;
Brichard, Bénédicte

Publication type:

Article

Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 2, p. 233, doi. 10.1111/dmcn.14653

By:

Morris, Stephanie M;
Acosta, Maria T;
Garg, Shruti;
Green, Jonathan;
Legius, Eric;
North, Kathryn;
Payne, Jonathan M;
Weiss, Lauren A;
Constantino, John N;
Gutmann, David H

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

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.

Published in:

2018

By:

Destouni, Aspasia;
Dimitriadou, Eftychia;
Masset, Heleen;
Debrock, Sophie;
Melotte, Cindy;
Bogaert, Kris Van Den;
Esteki, Masoud Zamani;
Ding, Jia;
Voet, Thiery;
Denayer, Ellen;
Van Den Bogaert, Kris;
Zamani Esteki, Masoud;
de Ravel, Thomy;
Legius, Eric;
Meuleman, Christel;
Peeraer, Karen;
Vermeesch, Joris R

Publication type:

journal article

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

Published in:

2017

By:

Dimitriadou, Eftychia;
Melotte, Cindy;
Debrock, Sophie;
Esteki, Masoud Zamani;
Dierickx, Kris;
Voet, Thierry;
Devriendt, Koen;
de Ravel, Thomy;
Legius, Eric;
Peeraer, Karen;
Meuleman, Christel;
Vermeesch, Joris Robert

Publication type:

journal 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

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

Published in:

2017

By:

Reilly, Karlyne M.;
AeRang Kim;
Blakely, Jaishri;
Ferner, Rosalie E.;
Gutmann, David H.;
Legius, Eric;
Miettinen, Markku M.;
Randall, R. Lor;
Ratner, Nancy;
Jumbé, N. L.;
Bakker, Annette;
Viskochil, David;
Widemann, Brigitte C.;
Stewart, Douglas R.;
Kim, AeRang

Publication type:

journal article

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

Published in:

2016

By:

Morris, Stephanie M.;
Acosta, Maria T.;
Garg, Shruti;
Green, Jonathan;
Huson, Susan;
Legius, Eric;
North, Kathryn N.;
Payne, Jonathan M.;
Plasschaert, Ellen;
Frazier, Thomas W.;
Weiss, Lauren A.;
Yi Zhang;
Gutmann, David H.;
Constantino, John N.;
Zhang, Yi

Publication type:

journal article

Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases.

Published in:

Ophthalmic Genetics, 2011, v. 32, n. 1, p. 54, doi. 10.3109/13816810.2010.535888

By:

De Keyser, Christophe;
Maudgal, Prabhat;
Legius, Eric;
Van Ginderdeuren, Rita;
Casteels, Ingele

Publication type:

Article

SREBP modulates the NADP<sup>+</sup>/NADPH cycle to control night sleep in Drosophila.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35577-8

By:

Mariano, Vittoria;
Kanellopoulos, Alexandros K.;
Aiello, Giuseppe;
Lo, Adrian C.;
Legius, Eric;
Achsel, Tilmann;
Bagni, Claudia

Publication type:

Article

In memory of Ludwine Messiaen, Ph.D. (1956–2024).

Published in:

2024

By:

De Baere, Elfride;
Legius, Eric;
Veitia, Reiner A.;
Claes, Kathleen

Publication type:

Obituary

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587

By:

Furia, Francesca;
Levy, Amanda M.;
Theunis, Miel;
Bamshad, Michael J.;
Bartos, Meghan N.;
Bijlsma, Emilia K.;
Brancati, Francesco;
Cejudo, Lucile;
Chong, Jessica X.;
De Luca, Chiara;
Dean, Sarah Joy;
Egense, Alena;
Goel, Himanshu;
Guenzel, Adam J.;
Hüffmeier, Ulrike;
Legius, Eric;
Mancini, Grazia M. S.;
Marcos‐Alcalde, Iñigo;
Niclass, Tanguy;
Planes, Marc

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

Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 866, doi. 10.1002/ajmg.a.61485

By:

Gross, Andrea M.;
Frone, Megan;
Gripp, Karen W.;
Gelb, Bruce D.;
Schoyer, Lisa;
Schill, Lisa;
Stronach, Beth;
Biesecker, Leslie G.;
Esposito, Dominic;
Hernandez, Edjay Ralph;
Legius, Eric;
Loh, Mignon L.;
Martin, Staci;
Morrison, Deborah K.;
Rauen, Katherine A.;
Wolters, Pamela L.;
Zand, Dina;
McCormick, Frank;
Savage, Sharon A.;
Stewart, Douglas R.

Publication type:

Article

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1091, doi. 10.1002/ajmg.a.61125

By:

Rauen, Katherine A.;
Alsaegh, Abeer;
Ben‐Shachar, Shay;
Berman, Yemima;
Blakeley, Jaishri;
Cordeiro, Isabel;
Elgersma, Ype;
Evans, D. Gareth;
Fisher, Michael J.;
Frayling, Ian M.;
George, Joshi;
Huson, Susan M.;
Kerr, Bronwyn;
Khire, Uday;
Korf, Bruce;
Legius, Eric;
Messiaen, Ludwine;
van Minkelen, Rick;
Nampoothiri, Sheela;
Ngeow, Joanne

Publication type:

Article

From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1098, doi. 10.1002/ajmg.a.61112

By:

Ferner, Rosalie E.;
Bakker, Annette;
Elgersma, Ype;
Evans, D. Gareth R.;
Giovannini, Marco;
Legius, Eric;
Lloyd, Alison;
Messiaen, Ludwine M.;
Plotkin, Scott;
Reilly, Karlyne M.;
Schindeler, Aaron;
Smith, Miriam J.;
Ullrich, Nicole J.;
Widemann, Brigitte;
Sherman, Larry S.

Publication type:

Article