Cargando…

Nevus anemicus and RASopathies

Detalles Bibliográficos
Autores principales:	Bulteel, Charlotte, Morren, Marie-Anne, De Haes, Petra, Denayer, Ellen, Legius, Eric, Brems, Hilde
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911779/ https://www.ncbi.nlm.nih.gov/pubmed/29693080 http://dx.doi.org/10.1016/j.jdcr.2017.09.037

Ejemplares similares

Dermatoscopy of Nevus Anemicus
por: Thakur, Vishal, et al.
Publicado: (2021)

Nevus anemicus: An island of sparing in the setting of drug-induced hypersensitivity
por: Lopez, Adriana T., et al.
Publicado: (2018)

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders
por: Borrie, Sarah C., et al.
Publicado: (2021)

An Acquired Anemic Patch Developed after a Cyst Excision: Is It a Variant of Nevus Anemicus?
por: Cho, Suhyun, et al.
Publicado: (2012)

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies
por: Beyens, Aude, et al.
Publicado: (2022)

The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis
por: MA, Han, et al.
Publicado: (2015)

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
por: Farschtschi, Said, et al.
Publicado: (2015)

Next-Generation Sequencing of Nevus Spilus–Type Congenital Melanocytic Nevus: Exquisite Genotype–Phenotype Correlation in Mosaic RASopathies
por: Kinsler, Veronica A, et al.
Publicado: (2014)

Legius Syndrome and its Relationship with Neurofibromatosis Type 1
por: DENAYER, Ellen, et al.
Publicado: (2020)

Management of rasopathies
por: Yoo, Han-Wook
Publicado: (2013)

Defining RASopathy
por: Rauen, Katherine A.
Publicado: (2022)

Pathogenesis of vestibular schwannoma in ring chromosome 22
por: Denayer, Ellen, et al.
Publicado: (2009)

Neurodevelopmental Aspects of RASopathies
por: Kim, Ye Eun, et al.
Publicado: (2019)

RASopathies and cardiac manifestations
por: Hilal, Nazia, et al.
Publicado: (2023)

The RASopathies: from pathogenetics to therapeutics
por: Hebron, Katie E., et al.
Publicado: (2022)

RASopathy in Patients With Isolated Sagittal Synostosis
por: Davis, Amani Ali, et al.
Publicado: (2019)

Fine-tuning candidate therapy for RASopathies
Publicado: (2012)

RASopathies: unraveling mechanisms with animal models
por: Jindal, Granton A., et al.
Publicado: (2015)

RASopathies: unraveling mechanisms with animal models
por: Jindal, Granton A., et al.
Publicado: (2015)

Social behavior in RASopathies and idiopathic autism
por: Foy, Allison M. H., et al.
Publicado: (2022)

Challenges in Treating Genodermatoses: New Therapies at the Horizon
por: Morren, Marie-Anne, et al.
Publicado: (2022)

Autism Spectrum Disorder Symptom Profile Across the RASopathies
por: Geoffray, Marie-Maude, et al.
Publicado: (2021)

RASopathies and hemostatic abnormalities: key role of platelet dysfunction
por: Di Candia, Francesca, et al.
Publicado: (2021)

RASopathies: From germline mutations to somatic and multigenic diseases
por: Riller, Quentin, et al.
Publicado: (2021)

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
por: Santoro, Claudia, et al.
Publicado: (2014)

Giant Cell Lesions of the Jaws Involving RASopathy Syndromes
por: Luna, Melissa, et al.
Publicado: (2022)

Endocrine system involvement in patients with RASopathies: A case series
por: Siano, M. A., et al.
Publicado: (2022)

A Patient with Neonatal Cholestasis
por: Claeys, Kristl G., et al.
Publicado: (2021)

The impact of RASopathy-associated mutations on CNS development in mice and humans
por: Kang, Minkyung, et al.
Publicado: (2019)

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
por: Leung, Gordon K. C., et al.
Publicado: (2018)

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation
por: Gelb, Bruce D., et al.
Publicado: (2018)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders
por: Tartaglia, Marco, et al.
Publicado: (2022)

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
por: Tiemens, Dagmar K., et al.
Publicado: (2023)

TBIO-27. RASOPATHIES AND BRAIN TUMOROGENESIS: ARE SOS1 MUTATIONS ARE CONCERNED?
por: Abdelmoula, Nouha Bouayed, et al.
Publicado: (2020)

Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
por: Siano, M. A., et al.
Publicado: (2021)

Structure‐energy‐based predictions and network modelling of RASopathy and cancer missense mutations
por: Kiel, Christina, et al.
Publicado: (2014)

Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy
por: Das, Tirtha K., et al.
Publicado: (2021)

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
por: Flex, Elisabetta, et al.
Publicado: (2014)

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes
por: de Carvalho, Joseane Biso, et al.
Publicado: (2019)

Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland
por: Karwacki, Marek W., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_ntu0m5tarhhldt0d53u6nbi88f