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» Authors » Ian Kesterton

Ian Kesterton

Explore the profile of Ian Kesterton including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 8
Citations 289
Followers 0
Related Specialties
Genetics
General Medicine
Oncology
Top 10 Co-Authors
William Allen
Andrew P Jackson
Hassan Ali Mundi Dhahrabi
Nursel H Elcioglu
Miriam Aza-Carmona
Mehul Dattani
Janine Altmuller
Megan T Cho
Carol-Anne Martin
Bushra A Y Barakat
Published In
Am J Hum Genet
Int J Radiat Biol
Int J Cancer
PLoS One
Nat Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin C, Sarlos K, Logan C, Thakur R, Parry D, Bizard A, et al.
Am J Hum Genet . 2024 May; 111(5):996. PMID: 38701747
No abstract available.
2.
A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy
Coleman J, Kavanagh K, Kesterton I, Hegarty A, OConnell S, Lynch S
Am J Med Genet A . 2023 Aug; 191(12):2884-2889. PMID: 37638701
We present a female patient with a complex sex chromosomal rearrangement [GRCh38] Xp22.33(10701_981101)x1,Yq11.221q11.23(13948013_26483746)x1 who conceived spontaneously and carried a healthy pregnancy to term. The patient presented with extreme short stature...
3.
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance
Ozgencil M, Barwell J, Tischkowitz M, Izatt L, Kesterton I, Simpson M, et al.
PLoS One . 2021 Dec; 16(12):e0260852. PMID: 34855882
Establishing a universally applicable protocol to assess the impact of BRCA1 variants of uncertain significance (VUS) expression is a problem which has yet to be resolved despite major progresses have...
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin C, Sarlos K, Logan C, Thakur R, Parry D, Bizard A, et al.
Am J Hum Genet . 2018 Sep; 103(3):456. PMID: 30193137
No abstract available.
5.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin C, Sarlos K, Logan C, Thakur R, Parry D, Bizard A, et al.
Am J Hum Genet . 2018 Jul; 103(2):221-231. PMID: 30057030
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is...
6.
Mutation of the RAD51C gene in a Fanconi anemia-like disorder
Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, et al.
Nat Genet . 2010 Apr; 42(5):406-9. PMID: 20400963
Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers. We have identified a homozygous...
7.
Lymphocyte radiosensitivity in BRCA1 and BRCA2 mutation carriers and implications for breast cancer susceptibility
Barwell J, Pangon L, Georgiou A, Kesterton I, Langman C, Arden-Jones A, et al.
Int J Cancer . 2007 Jun; 121(7):1631-6. PMID: 17582599
There is conflicting evidence as to whether individuals who are heterozygous for germ-line BRCA1 or BRCA2 mutations have an altered phenotypic cellular response to irradiation. To investigate this, chromosome breakage...
8.
Is chromosome radiosensitivity and apoptotic response to irradiation correlated with cancer susceptibility?
Docherty Z, Georgiou A, Langman C, Kesterton I, Rose S, Camplejohn R, et al.
Int J Radiat Biol . 2007 Mar; 83(1):1-12. PMID: 17357435
Purpose: Individuals who have been treated for breast cancer have been reported to have increased lymphocyte chromosomal sensitivity to ionizing radiation and a significantly lower apoptotic response to irradiation compared...