Helen Lord
Overview
Explore the profile of Helen Lord including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
246
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0
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Recent Articles
1.
McRae S, Whittaker M, Howarth M, Kershaw S, Knight K, Lord H, et al.
Br J Nurs
. 2024 Jun;
33(12):592-593.
PMID: 38900663
No abstract available.
2.
Luyckx I, Walton I, Boeckx N, Van Schil K, Pang C, De Praeter M, et al.
J Med Genet
. 2024 Jan;
61(4):363-368.
PMID: 38290823
Background: encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, rare heterozygous loss-of-function variants in were demonstrated to increase the risk of disparate clinical disorders...
3.
Calpena E, Cuellar A, Bala K, Swagemakers S, Koelling N, McGowan S, et al.
Genet Med
. 2020 Jul;
22(9):1567.
PMID: 32636483
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
4.
Calpena E, Cuellar A, Bala K, Swagemakers S, Koelling N, McGowan S, et al.
Genet Med
. 2020 Jun;
22(9):1498-1506.
PMID: 32499606
Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism nearBMP2 (rs1884302) was...
5.
Kirlew M, Lord H, Weber J
Nurs Stand
. 2020 May;
PMID: 32363844
Aim: To investigate the initial perceptions that health and social care professionals have when caring for trans patients. Method: This was a qualitative study that involved semi-structured interviews with five...
6.
Glass G, OHara J, Canham N, Cilliers D, Dunaway D, Fenwick A, et al.
Am J Med Genet A
. 2019 Feb;
179(4):615-627.
PMID: 30758909
Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial...
7.
Al-Yassin A, Calder A, Harrison M, Lester T, Lord H, Oldridge M, et al.
Eur J Hum Genet
. 2018 Jun;
26(9):1288-1293.
PMID: 29891876
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary...
8.
Kim S, Twigg S, Scanlon V, Chandra A, Hansen T, Alsubait A, et al.
Hum Mol Genet
. 2017 Apr;
26(11):2118-2132.
PMID: 28369379
Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each...
9.
Miller K, Twigg S, McGowan S, Phipps J, Fenwick A, Johnson D, et al.
J Med Genet
. 2016 Nov;
54(4):260-268.
PMID: 27884935
Background: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least...
10.
Fenwick A, Goos J, Rankin J, Lord H, Lester T, Hoogeboom A, et al.
BMC Med Genet
. 2014 Sep;
15:95.
PMID: 25174698
Background: Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum...