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European Journal of Human Genetics (23)
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Showing 1–43 of 43 results

Advanced filters: Author: Eric Legius Clear advanced filters

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius
Ludwine Messiaen
Scott R. Plotkin
ResearchOpen Access19 May 2021
Genetics in Medicine

Volume: 23, P: 1506-1513
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

E Pasmant
B Gilbert-Dussardier
P Ballerini
Research27 Jan 2014
Oncogene

Volume: 34, P: 631-638
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

Eric Legius
Douglas A. Marchuk
Thomas W. Glover
Research01 Feb 1993
Nature Genetics

Volume: 3, P: 122-126
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

Eric Legius
Els Schollen
Jean-Pierre Fryns
Research12 Mar 1998
European Journal of Human Genetics

Volume: 6, P: 32-37
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Eric Pasmant
Béatrice Parfait
Dominique Vidaud
Research30 Jul 2014
European Journal of Human Genetics

Volume: 23, P: 596-601
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

SUZ12, a component of the PRC2 complex, can also function as a tumour suppressor in certain tumours of the nervous system and melanomas.

Thomas De Raedt
Eline Beert
Karen Cichowski
Research13 Aug 2014
Nature

Volume: 514, P: 247-251
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

Els Schollen
Susanne Kjaergaard
Gert Matthijs
Research15 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 367-371
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Claire Forde
Emma Burkitt-Wright
Meena Upadhyaya
ResearchOpen Access13 Dec 2021
European Journal of Human Genetics

Volume: 30, P: 291-297
SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault
Nadège Bondurand
Michel Goossens
Research01 Feb 1998
Nature Genetics

Volume: 18, P: 171-173
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
ResearchOpen Access07 Sept 2018
Genetics in Medicine

Volume: 21, P: 867-876
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia

Hilde Van Esch
Rene Dom
Gert Matthijs
Research13 Oct 2004
European Journal of Human Genetics

Volume: 13, P: 121-123
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

Laurence Pacot
Dominique Vidaud
Eric Pasmant
ResearchOpen Access08 Sept 2024
npj Genomic Medicine

Volume: 9, P: 1-7
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion

Thomas De Raedt
Matthew Stephens
Eric Legius
Research19 Nov 2006
Nature Genetics

Volume: 38, P: 1419-1423
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Jennifer R. Hurvitz
Wafaa M. Suwairi
Matthew L. Warman
Research01 Sept 1999
Nature Genetics

Volume: 23, P: 94-98
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)

Geneviève Michils
Sabine Tejpar
Gert Matthijs
Research13 Aug 2002
European Journal of Human Genetics

Volume: 10, P: 505-510
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Nathalie Brison
Jazz Storms
Kris Van Den Bogaert
Research14 Jun 2019
Genetics in Medicine

Volume: 21, P: 2774-2780
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz
Chrystelle Colas
Marja Hietala
ResearchOpen Access12 Jun 2020
European Journal of Human Genetics

Volume: 28, P: 1387-1393
SREBP modulates the NADP⁺/NADPH cycle to control night sleep in Drosophila

Mechanisms underlying sleep dysfunctions in neurodevelopmental disorders remain elusive. Here, authors use a fly model for the CYFIP haploinsufficiency to show that increased SREBP activity impairs the NADP+/NADPH homeostasis inducing sleep deficits.

Vittoria Mariano
Alexandros K. Kanellopoulos
Claudia Bagni
ResearchOpen Access20 Feb 2023
Nature Communications

Volume: 14, P: 1-15
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Susanne Kohl
Balazs Varsanyi
Bernd Wissinger
Research15 Dec 2004
European Journal of Human Genetics

Volume: 13, P: 302-308
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Myrthe J. Ottenhoff
André B. Rietman
Ype Elgersma
ResearchOpen Access04 Feb 2020
Genetics in Medicine

Volume: 22, P: 889-897
Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Douglas R. Stewart
Hilde Brems
Ludwine Messiaen
Research14 Nov 2013
Genetics in Medicine

Volume: 16, P: 448-459
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

Qing Zhang
Baohui Zhao
Richard T. Swank
Research27 Jan 2003
Nature Genetics

Volume: 33, P: 145-153
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Hilde Brems
Magdalena Chmara
Eric Legius
Research19 Aug 2007
Nature Genetics

Volume: 39, P: 1120-1126
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

Els Schollen
Gert Matthijs
Eric Legius
Research09 Jan 2003
European Journal of Human Genetics

Volume: 11, P: 85-88
Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling

Marleen Decruyenaere
Gerry Evers-Kiebooms
Koen Demyttenaere
Research16 Mar 2000
European Journal of Human Genetics

Volume: 8, P: 130-136
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D. H. Konrad
Niels Nardini
Christiane Zweier
ResearchOpen Access26 Jun 2019
Genetics in Medicine

Volume: 21, P: 2723-2733
Limited Expansion of the (CAG)n Repeat of the Huntington Gene: A Premutation (?)

Eric Legius
Harry Cuppens
Jean-Jacques Cassiman
Research01 Jan 1994
European Journal of Human Genetics

Volume: 2, P: 44-50
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Richard Gallon
Carlijn Brekelmans
Katharina Wimmer
ResearchOpen Access24 May 2024
npj Precision Oncology

Volume: 8, P: 1-11
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Mio Aerden
Anne-Sophie Denommé-Pichon
Hilde Van Esch
Research07 Feb 2023
European Journal of Human Genetics

Volume: 31, P: 461-468
Identifying challenges in neurofibromatosis: a modified Delphi procedure

Britt A. E. Dhaenens
Rosalie E. Ferner
Rianne Oostenbrink
ResearchOpen Access26 Apr 2021
European Journal of Human Genetics

Volume: 29, P: 1625-1633
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

D. Gareth Evans
Stefania Mostaccioli
Ignacio Blanco
ResearchOpen Access01 Apr 2022
European Journal of Human Genetics

Volume: 30, P: 812-817
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

Thierry Frebourg
Svetlana Bajalica Lagercrantz
Marja Hietala
ResearchOpen Access26 May 2020
European Journal of Human Genetics

Volume: 28, P: 1379-1386
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Huiwen Che
Darine Villela
Joris Robert Vermeesch
Research06 Feb 2020
Genetics in Medicine

Volume: 22, P: 962-973
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Jeroen Breckpot
Britt-Marie Anderlid
Koen Devriendt
Research06 May 2015
European Journal of Human Genetics

Volume: 24, P: 51-58
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

D Babovic-Vuksanovic
Ludwine Messiaen
Eric Legius
Research18 Jan 2012
European Journal of Human Genetics

Volume: 20, P: 618-625
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Laura Thomas
Gill Spurlock
Meena Upadhyaya
Research23 Nov 2011
European Journal of Human Genetics

Volume: 20, P: 411-419
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

Katharina Steinmann
Lan Kluwe
Hildegard Kehrer-Sawatzki
Research23 Jan 2008
European Journal of Human Genetics

Volume: 16, P: 572-580
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Baran Bayindir
Luc Dehaspe
Joris R Vermeesch
Research14 Jan 2015
European Journal of Human Genetics

Volume: 23, P: 1286-1293
Reply to Kratz et al.

Thierry Frebourg
Svetlana Bajalica Lagercrantz
Marja Hietala
CorrespondenceOpen Access13 Aug 2020
European Journal of Human Genetics

Volume: 28, P: 1483-1485
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
Amendments and Corrections02 Oct 2018
Genetics in Medicine

Volume: 21, P: 764-765
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Nathalie Brison
Kris Van Den Bogaert
Joris R. Vermeesch
Research01 Sept 2016
Genetics in Medicine

Volume: 19, P: 306-313
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

Lore Lannoo
Khaila van Straaten
Koenraad Devriendt
Reviews27 Jul 2022
European Journal of Human Genetics

Volume: 30, P: 1323-1330
Developing a policy for paediatric biobanks: principles for good practice

Kristien Hens
Carla E Van El
Kris Dierickx
ReviewsOpen Access20 Jun 2012
European Journal of Human Genetics

Volume: 21, P: 2-7