Ignacio Del Valle
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Explore the profile of Ignacio Del Valle including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
McGlacken-Byrne S, Suntharalingham J, Ishida M, Buonocore F, Del Valle I, Cameron-Pimblett A, et al.
J Clin Endocrinol Metab
. 2025 Feb;
PMID: 39999035
Context: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. Objective: To elucidate the genetic architecture of EO-POI in...
2.
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development
Suntharalingham J, Del Valle I, Buonocore F, McGlacken-Byrne S, Brooks T, Ogunbiyi O, et al.
Commun Biol
. 2025 Feb;
8(1):249.
PMID: 39956831
Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore undertook an exploratory study of the transcriptomic landscape of...
3.
Suntharalingham J, Ishida M, Cameron-Pimblett A, McGlacken-Byrne S, Buonocore F, Del Valle I, et al.
Front Endocrinol (Lausanne)
. 2023 Oct;
14:1227164.
PMID: 37800145
Background: Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity, hypertension, and congenital cardiovascular anomalies (CCA). Whilst...
4.
Del Valle I, Young M, Kildisiute G, Ogunbiyi O, Buonocore F, Simcock I, et al.
JCI Insight
. 2023 Jul;
8(14).
PMID: 37440461
The adrenal glands synthesize and release essential steroid hormones such as cortisol and aldosterone, but many aspects of human adrenal gland development are not well understood. Here, we combined single-cell...
5.
Suntharalingham J, Ishida M, Del Valle I, Stalman S, Solanky N, Wakeling E, et al.
Front Endocrinol (Lausanne)
. 2022 Sep;
13:953707.
PMID: 36060959
Background: Heterozygous variants in cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of additional clinical associations is...
6.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
McGlacken-Byrne S, Del Valle I, Le Quesne Stabej P, Bellutti L, Garcia-Alonso L, Ocaka L, et al.
JCI Insight
. 2022 Feb;
7(5).
PMID: 35138268
Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to...
7.
McGlacken-Byrne S, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, et al.
J Clin Endocrinol Metab
. 2021 Aug;
107(1):e254-e263.
PMID: 34402903
Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women,...
8.
Young M, Mitchell T, Custers L, Margaritis T, Morales-Rodriguez F, Kwakwa K, et al.
Nat Commun
. 2021 Jun;
12(1):3896.
PMID: 34162837
Tumor cells may share some patterns of gene expression with their cell of origin, providing clues into the differentiation state and origin of cancer. Here, we study the differentiation state...
9.
Kildisiute G, Kholosy W, Young M, Roberts K, Elmentaite R, van Hooff S, et al.
Sci Adv
. 2021 Feb;
7(6).
PMID: 33547074
Neuroblastoma is a childhood cancer that resembles developmental stages of the neural crest. It is not established what developmental processes neuroblastoma cancer cells represent. Here, we sought to reveal the...
10.
Buonocore F, McGlacken-Byrne S, Del Valle I, Achermann J
Front Pediatr
. 2020 Dec;
8:619041.
PMID: 33381483
Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to diagnose, especially if it is not considered as a potential cause of a child's clinical presentation or...