Edna E Mancilla
Overview
Explore the profile of Edna E Mancilla including associated specialties, affiliations and a list of published articles.
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17
Citations
418
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Recent Articles
1.
Groeneweg S, van Geest F, Martin M, Dias M, Frazer J, Medina-Gomez C, et al.
Nat Commun
. 2025 Mar;
16(1):2479.
PMID: 40075072
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked...
2.
Stoffers A, Mancilla E, Levine M, Mayer M, Monk H, Rosano J, et al.
J Clin Endocrinol Metab
. 2024 Sep;
PMID: 39324646
Context: Prior studies have demonstrated the safety and efficacy of zoledronic acid (ZA) to increase bone mineral density (BMD) in children. By contrast, the efficacy of ZA on fractures in...
3.
Craven M, Vajravelu M, Shekdar K, Levine M, Mumm S, Whyte M, et al.
Bone
. 2023 Feb;
170:116698.
PMID: 36740137
Introduction: Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise familial expansile osteolysis (FEO),...
4.
Pignolo R, Hsiao E, Al Mukaddam M, Baujat G, Berglund S, Brown M, et al.
J Bone Miner Res
. 2022 Dec;
38(3):381-394.
PMID: 36583535
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). The single-arm, open-label, phase 3 MOVE trial (NCT03312634) assessed efficacy and safety of palovarotene,...
5.
Rychik J, Goldberg D, Rand E, Mancilla E, Heimall J, Seivert N, et al.
Pediatr Cardiol
. 2022 Jun;
43(7):1678.
PMID: 35695923
No abstract available.
6.
Rychik J, Goldberg D, Rand E, Mancilla E, Heimall J, Seivert N, et al.
Pediatr Cardiol
. 2022 May;
43(6):1175-1192.
PMID: 35604474
Today, it is anticipated most individuals diagnosed with single-ventricle malformation will survive surgical reconstruction through a successful Fontan operation. As greater numbers of patients survive, so has the recognition that...
7.
Kaplan F, Teachey D, Andolina J, Siegel D, Mancilla E, Hsiao E, et al.
Bone
. 2021 May;
150:116016.
PMID: 34022457
The compassionate use of available medications with unproven efficacy is often in conflict with their clinical evaluation in placebo-controlled clinical trials. For ultra-rare diseases where no approved treatments exist, such...
8.
Mancilla E, Zielonka B, Roizen J, Dodds K, Rand E, Heimall J, et al.
J Pediatr
. 2021 Apr;
235:149-155.e2.
PMID: 33887332
Objective: To evaluate growth in a population of patients with Fontan circulation. Study Design: We performed a cross-sectional evaluation of patients followed in our multidisciplinary Fontan clinic from January 2011...
9.
Groeneweg S, van Geest F, Abaci A, Alcantud A, Ambegaonkar G, Armour C, et al.
Lancet Diabetes Endocrinol
. 2020 Jun;
8(7):594-605.
PMID: 32559475
Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic...
10.
Rampp R, Mancilla E, Scott Adzick N, Levine M, Kelz R, Fraker D, et al.
World J Surg
. 2020 Jan;
44(5):1518-1525.
PMID: 31900569
Background: Primary hyperparathyroidism (PHPT) in children and adolescents is uncommon. Data-driven guidelines for management in pediatric patients are limited. Methods: We performed a retrospective cohort analysis of all patients (1997-2017)...