Search filters

List of works by Eric Legius

An 8.9 year old girl with autism and Gorlin syndrome ⬇️

scientific article published on December 28, 2010

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

scientific article

Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines

scientific article published on 20 June 2020

Cardiac involvement and CTG expansion in myotonic dystrophy

scientific article published on 01 June 2002

Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity.

scientific article published in April 1989

Diaphragmatic hernia in Denys-Drash syndrome

scientific article published on 01 May 1995

Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome

scientific article published on 01 September 1994

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

scientific article published on 01 January 1998

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

scientific article published on 29 June 2020

Genomic organization and evolution of the NF1 microdeletion region.

scientific article

Gustatory flushing (auriculotemporal nerve syndrome) in children with neurofibromatosis type 1 and facial plexiform neurofibromas

scientific article published on 16 February 2011

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

scientific article published on December 2006

Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases

scientific article published on 21 December 2010

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients

scientific article

Multiple granular cell tumors in a child with Noonan syndrome.

scientific article published on 22 August 2012

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

scientific article published on 15 November 2018

NF1-related locus on chromosome 15

scientific article published on August 1, 1992

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site

scientific article published on 18 June 2019

Observations on intelligence and behavior in 15 patients with Legius syndrome

scientific article published on 14 April 2011

Ophthalmological assessment of children with neurofibromatosis type 1.

scientific article published on 25 May 2013

Pathogenesis of vestibular schwannoma in ring chromosome 22

scientific article

Patients with High-Grade Gliomas and Café-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis?

scientific article published on 09 May 2019

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

scientific article

TP53 mutations are frequent in malignant NF1 tumors

scientific article published on 01 August 1994

Ten base pair duplication in exon 38 of the NF1 gene

scientific article published on 01 May 1994

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

scientific article

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

scientific article published on 5 July 2007

Paulina is supported by:

About Paulina

Help