David Bourn
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Explore the profile of David Bourn including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
190
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Recent Articles
1.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, et al.
J Med Genet
. 2022 Dec;
60(7):669-678.
PMID: 36572524
Objective: To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration Service (NDRS) by...
2.
Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, et al.
J Am Acad Dermatol
. 2019 May;
81(6):1300-1307.
PMID: 31085270
Background: Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing results in individuals with these tumors are frequently normal. Objective: To determine if...
3.
Schirwani S, Novelli A, Digilio M, Bourn D, Wilson V, Roberts C, et al.
Eur J Med Genet
. 2018 Jul;
62(4):243-247.
PMID: 30048822
GPC3 and GPC4 are the only two genes in which mutations are known to cause Simpson-Golabi-Behmel syndrome type 1 (SGBS1). The majority of SGBS1 patients have point mutations or deletions...
4.
5.
Moss J, Penhallow J, Ansari M, Barton S, Bourn D, Fitzpatrick D, et al.
Am J Med Genet A
. 2017 Apr;
173(6):1566-1574.
PMID: 28425213
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes...
6.
McGregor A, Moulton D, Bown N, Cuthbert G, Bourn D, Mathew S, et al.
Leuk Lymphoma
. 2016 Apr;
57(8):1980-1.
PMID: 27090743
No abstract available.
7.
McGregor A, Moulton D, Bown N, Cuthbert G, Bourn D, Mathew S, et al.
Leuk Lymphoma
. 2015 Dec;
57(7):1575-84.
PMID: 26666339
We conducted a retrospective population-based study of patients diagnosed with acute myeloid leukemia (AML) in northern England (population 3.1 million) in order to assess the impact of age and genetics...
8.
Dubois A, Wilson V, Bourn D, Rajan N
PLoS Curr
. 2015 Mar;
7.
PMID: 25737804
The clinical presentation of multiple, rare, skin appendage tumours called cylindromas has been attributed to germline mutations in the tumour suppressor gene (OMIM 605018). Brooke-Spiegler Syndrome (BSS), familial cylindromatosis (FC)...
9.
Srinivasan R, Ball S, Ward-Platt M, Bourn D, McAnulty C, Cheetham T
Endocrinol Diabetes Metab Case Rep
. 2014 Mar;
2013:130068.
PMID: 24616780
Aim: Differentiating familial cranial diabetes insipidus (CDI) from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis....
10.
McCann L, McPartland J, Barge D, Strain L, Bourn D, Calonje E, et al.
J Clin Immunol
. 2013 Nov;
34(1):42-8.
PMID: 24217815
We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When...