Nekane Ibarluzea
Overview
Explore the profile of Nekane Ibarluzea including associated specialties, affiliations and a list of published articles.
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10
Citations
74
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Recent Articles
1.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt D, Marques I, Soares G, et al.
Am J Med Genet A
. 2022 Oct;
191(1):135-143.
PMID: 36271811
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to...
2.
Villate O, Ibarluzea N, Maortua H, De la Hoz A, Rodriguez-Revenga L, Izquierdo-Alvarez S, et al.
Front Mol Biosci
. 2020 Aug;
7:135.
PMID: 32766278
There are four classes of CGG repeat alleles in the gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200 repeats; those between...
3.
Aguilera-Albesa S, De la Hoz A, Ibarluzea N, Ordonez-Castillo A, Busto-Crespo O, Villate O, et al.
Front Neurol
. 2020 Mar;
11:41.
PMID: 32117010
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment....
4.
Ibarluzea N, De la Hoz A, Villate O, Llano I, Ocio I, Marti I, et al.
Genes (Basel)
. 2020 Jan;
11(1).
PMID: 31906484
X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of affected males observed in patients with...
5.
Tejada M, Ibarluzea N
Clin Genet
. 2020 Jan;
97(5):677-687.
PMID: 31898314
Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in the X-chromosome in...
6.
Tejada M, Villate O, Ibarluzea N, De la Hoz A, Martinez-Bouzas C, Beristain E, et al.
Front Genet
. 2019 Nov;
10:1074.
PMID: 31737052
X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically...
7.
Tejada M, Elcoroaristizabal X, Ibarluzea N, Botella M, de la Hoz A, Ocio I
Clin Genet
. 2018 Nov;
95(2):339-340.
PMID: 30460678
No abstract available.
8.
Munkley J, Maia T, Ibarluzea N, Livermore K, Vodak D, Ehrmann I, et al.
F1000Res
. 2018 Oct;
7:1189.
PMID: 30271587
Androgen steroid hormones are key drivers of prostate cancer. Previous work has shown that androgens can drive the expression of alternative mRNA isoforms as well as transcriptional changes in prostate...
9.
Villate O, Ibarluzea N, Fraile-Bethencourt E, Valenzuela A, Velasco E, Grozeva D, et al.
Front Genet
. 2018 Feb;
9:7.
PMID: 29434620
Mutations in have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing...
10.
Merino S, Ibarluzea N, Maortua H, Prieto B, Rouco I, Lopez-Ariztegui M, et al.
Genes (Basel)
. 2016 Oct;
7(10).
PMID: 27775646
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 () premutation (PM). Additional medical problems have also...