Research & Literature

Family with Legius syndrome (neurofibromatosis type 1-like syndrome).

Sakai N, Maeda T, Kawakami H, et al.

The Journal of dermatology 2015; (42(7)):703-5 doi:10.1111/1346-8138.12862.

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.

Yao R, Wang L, Yu Y, et al.

The Journal of dermatology 2016; (43(5)):537-42 doi:10.1111/1346-8138.13169.

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y, Brems H, Suzuki M, et al.

The Journal of biological chemistry 2016; (291(7)):3124-34 doi:10.1074/jbc.M115.703710.

Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders.

Ryu HH, Lee YS

Neurobiology of learning and memory 2016; (135()):13-21 doi:10.1016/j.nlm.2016.06.006.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Zhang J, Li M, Yao Z

Molecular medicine reports 2016; (14(5)):4023-4029 doi:10.3892/mmr.2016.5760.

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Cassiman C, Casteels I, Jacob J, et al.

Clinical genetics 2017; (91(4)):529-535 doi:10.1111/cge.12873.

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

Sekelska M, Briatkova L, Olcak T, et al.

General physiology and biophysics 2017; (36(2)):205-210 doi:10.4149/gpb_2016032.

Building a family network from genetic testing.

Leppig KA, Thiese HA, Carrel D, et al.

Molecular genetics & genomic medicine 2017; (5(2)):122-129 doi:10.1002/mgg3.259.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, et al.

Journal of human genetics 2017; (62(11)):1001-1004 doi:10.1038/jhg.2017.78.

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.

Rowley SM, Mascarenhas L, Devereux L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):913-922 doi:10.1038/s41436-018-0277-0.

Neurodevelopmental Aspects of RASopathies.

Kim YE, Baek ST

Molecules and cells 2019; (42(6)):441-447 doi:10.14348/molcells.2019.0037.

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.

Giugliano T, Santoro C, Torella A, et al.

Genes 2019; (10(8)) doi:10.3390/genes10080580.

Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.

Führer S, Tollinger M, Dunzendorfer-Matt T

Journal of molecular biology 2019; (431(19)):3889-3899 doi:10.1016/j.jmb.2019.07.038.

One NF1 Mutation may Conceal Another.

Pacot L, Burin des Roziers C, Laurendeau I, et al.

Genes 2019; (10(9)) doi:10.3390/genes10090633.

Legius Syndrome and its Relationship with Neurofibromatosis Type 1.

Denayer E, Legius E

Acta dermato-venereologica 2020; (100(7)):adv00093 doi:10.2340/00015555-3429.

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

Legius E, Brems H

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(10)):2285-2295 doi:10.1007/s00381-020-04771-8.

Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?

Pabst L, Carroll J, Lo W, Truxal KV

American journal of medical genetics. Part A 2021; (185(1)):223-227 doi:10.1002/ajmg.a.61921.

Lisch nodules and iris mammillations in two siblings with familial legius syndrome.

Bixel KD, Cano MJ, Johnson DM, et al.

Clinical case reports 2020; (8(10)):1867-1871 doi:10.1002/ccr3.2861.

Impaired instrumental learning in Spred1-/- mice, a model for a rare RASopathy.

Borrie SC, Horner AE, Yoshimura A, et al.

Genes, brain, and behavior 2021; (20(5)):e12727 doi:10.1111/gbb.12727.

A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study.

Zhang T, Jia C, Dong Z, et al.

Molecular genetics & genomic medicine 2021; (9(5)):e1643 doi:10.1002/mgg3.1643.

SPRED proteins and their roles in signal transduction, development, and malignancy.

Lorenzo C, McCormick F

Genes & development 2020; (34(21-22)):1410-1421 doi:10.1101/gad.341222.120.

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

Legius E, Messiaen L, Wolkenstein P, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(8)):1506-1513 doi:10.1038/s41436-021-01170-5.

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

Borrie SC, Plasschaert E, Callaerts-Vegh Z, et al.

Molecular autism 2021; (12(1)):53 doi:10.1186/s13229-021-00458-2.

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Kehrer-Sawatzki H, Cooper DN

Human genetics 2022; (141(2)):177-191 doi:10.1007/s00439-021-02410-z.

The RASopathies: Biology, genetics and therapeutic options.

Longo JF, Carroll SL

Advances in cancer research 2022; (153()):305-341 doi:10.1016/bs.acr.2021.07.007.

RASopathies: Dermatologists' viewpoints.

Palit A, Inamadar AC

Indian journal of dermatology, venereology and leprology 2022; (88(4)):452-463.

Epilepsy in Legius syndrome: Coincidence or causation?

Medina Lemus A, Boelman C, Myers KA

American journal of medical genetics. Part A 2024; (194(6)):e63547 doi:10.1002/ajmg.a.63547.

RASopathies for Radiologists.

Handa A, Tsujioka Y, Nishimura G, et al.

Radiographics : a review publication of the Radiological Society of North America, Inc 2024; (44(5)):e230153 doi:10.1148/rg.230153.

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Chelleri C, Brolatti N, De Marco P, et al.

American journal of medical genetics. Part A 2024; (194(12)):e63824 doi:10.1002/ajmg.a.63824.

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J, Ney G, Frone MN, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.10.09.24314324.

Significance of the Absence of Focal Areas of Signal Intensity on Brain Magnetic Resonance Imaging Examinations in Legius Syndrome.

Petrak B, Kraus J, Bendova S, et al.

Pediatric neurology 2025; (169()):142-147 doi:10.1016/j.pediatrneurol.2025.05.008.