Elisabeth Castellanos
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Explore the profile of Elisabeth Castellanos including associated specialties, affiliations and a list of published articles.
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27
Citations
374
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Recent Articles
1.
Munte E, Roca C, Del Valle J, Feliubadalo L, Pineda M, Gel B, et al.
Brief Bioinform
. 2024 Dec;
26(1).
PMID: 39668338
Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task....
2.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, et al.
Genet Med
. 2024 Aug;
26(11):101241.
PMID: 39140257
Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs). Methods: A...
3.
Mazuelas H, Magallon-Lorenz M, Uriarte-Arrazola I, Negro A, Rosas I, Blanco I, et al.
JCI Insight
. 2024 Jan;
9(3).
PMID: 38175707
Cutaneous neurofibromas (cNFs) are benign Schwann cell (SC) tumors arising from subepidermal glia. Individuals with neurofibromatosis type 1 (NF1) may develop thousands of cNFs, which greatly affect their quality of...
4.
Maroto A, Borrajo M, Prades S, Callejo A, Amilibia E, Perez-Grau M, et al.
Arch Toxicol
. 2023 May;
97(7):1943-1961.
PMID: 37195449
Hair cell (HC) loss by epithelial extrusion has been described to occur in the rodent vestibular system during chronic 3,3'-iminodipropionitrile (IDPN) ototoxicity. This is preceded by dismantlement of the calyceal...
5.
Magallon-Lorenz M, Terribas E, Ortega-Bertran S, Creus-Bachiller E, Fernandez M, Requena G, et al.
iScience
. 2023 Feb;
26(2):106096.
PMID: 36818284
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the peripheral nervous system that develop either sporadically or in the context of neurofibromatosis type 1 (NF1). MPNST diagnosis can...
6.
Catasus N, Rosas I, Bonache S, Negro A, Torres-Martin M, Plana-Pla A, et al.
Mol Ther Nucleic Acids
. 2022 Nov;
30:493-505.
PMID: 36420221
NF2-related schwannomatosis (NF2-related SWN) is an autosomal dominant condition caused by loss of function variants in the gene, which codes for the protein Merlin and is characterized by the development...
7.
Plana-Pla A, Condal L, Jaka A, Blanco I, Castellanos E, Bielsa I
Pediatr Dermatol
. 2022 Sep;
40(1):179-181.
PMID: 36151877
Linear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It...
8.
Mazuelas H, Magallon-Lorenz M, Fernandez-Rodriguez J, Uriarte-Arrazola I, Richaud-Patin Y, Terribas E, et al.
Cell Rep
. 2022 Feb;
38(7):110385.
PMID: 35172160
Plexiform neurofibromas (pNFs) are developmental tumors that appear in neurofibromatosis type 1 individuals, constituting a major source of morbidity and potentially transforming into a highly metastatic sarcoma (MPNST). pNFs arise...
9.
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, et al.
J Med Genet
. 2022 Feb;
59(10):1017-1023.
PMID: 35121649
Methods: 829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1. Genotyping and segregation analysis of familial variants was determined...
10.
Piotrowski A, Koczkowska M, Poplawski A, Bartoszewski R, Kroliczewski J, Mieczkowska A, et al.
Hum Mutat
. 2021 Nov;
43(1):74-84.
PMID: 34747535
Constitutional LZTR1 or SMARCB1 pathogenic variants (PVs) have been found in ∼86% of familial and ∼40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR1,...