about
Update in genetic susceptibility in melanomaTERT gene amplification is associated with poor outcome in acral lentiginous melanoma.Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancerX-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona.Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relativesPrevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanomaMutational status of naevus-associated melanomas.Genetic counseling in melanoma.Genetic alterations in RAS-regulated pathway in acral lentiginous melanomaA comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.Molecular characterization of human cutaneous melanoma-derived cell lines.Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.Multiple BRAF Wild-Type Melanomas During Dabrafenib Treatment for Metastatic BRAF-Mutant Melanoma.Mutation of the tumour suppressor p33ING1b is rare in melanoma.Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.Novel clinical and molecular findings in Spanish patients with Nevoid Basal Cell Carcinoma Syndrome.Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.Evaluation of PAX3 genetic variants and nevus number.Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.Incidence of fragile X in 5,000 consecutive newborn males.Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Celia Badenas
@ast
Celia Badenas
@en
Celia Badenas
@es
Celia Badenas
@nl
type
label
Celia Badenas
@ast
Celia Badenas
@en
Celia Badenas
@es
Celia Badenas
@nl
prefLabel
Celia Badenas
@ast
Celia Badenas
@en
Celia Badenas
@es
Celia Badenas
@nl
P106
P21
P31
P496
0000-0002-0621-0477