Noelia Baz-Redon
Overview
Explore the profile of Noelia Baz-Redon including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
12
Citations
61
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Yeste D, Baz-Redon N, Antolin M, Garcia-Arumi E, Mogas E, Campos-Martorell A, et al.
Int J Mol Sci
. 2024 Sep;
25(18).
PMID: 39337518
Genetic defects in the TSH receptor () can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild...
2.
Baz-Redon N, Antolin M, Clemente M, Campos A, Mogas E, Fernandez-Cancio M, et al.
Int J Mol Sci
. 2024 Aug;
25(15).
PMID: 39126042
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in can cause...
3.
Fernandez-Cancio M, Antolin M, Clemente M, Campos-Martorell A, Mogas E, Baz-Redon N, et al.
Front Endocrinol (Lausanne)
. 2024 Jul;
15:1367808.
PMID: 39040671
Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to () gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum,...
4.
Baz-Redon N, Sanchez-Bellver L, Fernandez-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, et al.
Cells
. 2024 Mar;
13(6.
PMID: 38534367
We report a novel missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary...
5.
Clemente M, Cobo P, Antolin M, Campos A, Yeste D, Tomasini R, et al.
J Clin Endocrinol Metab
. 2023 May;
108(11):e1316-e1328.
PMID: 37216904
Context: Patients with congenital hyperinsulinism due to ABCC8 variants generally present severe hypoglycemia and those who do not respond to medical treatment typically undergo pancreatectomy. Few data exist on the...
6.
Baz-Redon N, Soler-Colomer L, Fernandez-Cancio M, Benito-Sanz S, Garrido M, Moline T, et al.
Front Endocrinol (Lausanne)
. 2022 Oct;
13:957969.
PMID: 36303863
The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog...
7.
Torrent-Vernetta A, Gaboli M, Castillo-Corullon S, Mondejar-Lopez P, Sanz Santiago V, Costa-Colomer J, et al.
Arch Bronconeumol
. 2022 Mar;
58(1):22-29.
PMID: 35249699
Background: Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are...
8.
Baz-Redon N, Rovira-Amigo S, Fernandez-Cancio M, Castillo-Corullon S, Cols M, Caballero-Rabasco M, et al.
J Clin Med
. 2020 Nov;
9(11).
PMID: 33182294
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins...
9.
Camats N, Baz-Redon N, Fernandez-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, et al.
J Clin Endocrinol Metab
. 2020 Oct;
106(1):e152-e170.
PMID: 33029631
Purpose: Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by a total/partial blockage of the biochemical processes of thyroid-hormone synthesis and secretion. Paired box 8 (PAX8) is essential...
10.
Baz-Redon N, Rovira-Amigo S, Paramonov I, Castillo-Corullon S, Cols Roig M, Antolin M, et al.
Arch Bronconeumol (Engl Ed)
. 2020 Apr;
57(3):186-194.
PMID: 32253119
Introduction: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination...