Amy Lawson-Yuen
Overview
Explore the profile of Amy Lawson-Yuen including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
264
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0
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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.
van Geest F, Groeneweg S, van den Akker E, Bacos I, Barca D, van den Berg S, et al.
J Clin Endocrinol Metab
. 2021 Oct;
107(3):e1136-e1147.
PMID: 34679181
Context: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. Objective: Our previous trial showed improvement of...
3.
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...
4.
Simon J, Stoll K, Fick R, Mott J, Lawson-Yuen A
Clin Case Rep
. 2020 Jan;
7(12):2311-2315.
PMID: 31893048
Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports....
5.
Lawson-Yuen A, Saldivar J, Sommer S, Picker J
Eur J Hum Genet
. 2008 Jan;
16(5):614-8.
PMID: 18231125
Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked...
6.
Lawson-Yuen A, Liu D, Han L, Jiang Z, Tsai G, Basu A, et al.
Brain Res
. 2007 Oct;
1180:1-6.
PMID: 17936729
Mutations in the transcriptional repressor methyl CpG binding protein 2 (MeCP2) are responsible for most cases of Rett Syndrome (RS), a severe neurodevelopmental disorder characterized by developmental regression, minimal speech,...
7.
Lawson-Yuen A, Wu B, Lip V, Sahoo T, Kimonis V
Am J Med Genet A
. 2006 Oct;
140(21):2361-4.
PMID: 17036311
Angelman syndrome (AS) is a profound disorder notable for mental retardation and severe language deficits that results from lack of function of the maternally inherited copy of the UBE3A gene....
8.
Lawson-Yuen A, Berend S, Soul J, Irons M
Clin Dysmorphol
. 2006 Sep;
15(4):217-220.
PMID: 16957476
Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had...
9.
Lawson-Yuen A, Levy H
Mol Genet Metab
. 2006 Mar;
88(3):201-7.
PMID: 16545978
Elevation of homocysteine is implicated in multiple medical conditions, including classical homocystinuria, a variety of remethylation disorders, and most recently in coronary artery disease. Betaine is a methyl donor agent...