Monica Fernandez-Cancio
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Explore the profile of Monica Fernandez-Cancio including associated specialties, affiliations and a list of published articles.
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47
Citations
430
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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.
Fernandez-Cancio M, Audi L, Yeste D
Endocrinol Diabetes Nutr (Engl Ed)
. 2023 Jan;
70(1):74-75.
PMID: 36690525
No abstract available.
7.
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...
8.
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...
9.
Campos-Martorell A, Fernandez-Cancio M, Clemente Leon M, Mogas Vinals E, Fabregas Martori A, Carrascosa Lezcano A, et al.
Endocrinol Diabetes Nutr (Engl Ed)
. 2021 Dec;
68(9):612-620.
PMID: 34906341
Patients And Methods: Seventy-eight children born SGA were treated with a GH median dose of 33.0±2.8mcg/kg/day at a mean age of 7.3±2.0 (boys) and 6.0±1.8 (girls). Results: Mean height (SDS)...
10.
Campos-Martorell A, Fernandez-Cancio M, Clemente Leon M, Mogas Vinals E, Fabregas Martori A, Carrascosa Lezcano A, et al.
Endocrinol Diabetes Nutr (Engl Ed)
. 2021 Jun;
PMID: 34127440
Patients And Methods: Seventy-eight children born SGA were treated with a GH median dose of 33.0±2.8mcg/kg/day at a mean age of 7.3±2.0 (boys) and 6.0±1.8 (girls). Results: Mean height (SDS)...