Search Results - "Hadfield, Kristen D"
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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
Published in Nature genetics (01-03-2013)“…William Newman, Gareth Evans and colleagues report that loss-of-function mutations in SMARCE1 cause an inherited disorder characterized by multiple spinal…”
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2
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
Published in Proceedings of the National Academy of Sciences - PNAS (23-06-2015)“…Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies,…”
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3
Impaired Tamoxifen Metabolism Reduces Survival in Familial Breast Cancer Patients
Published in Clinical cancer research (15-09-2008)“…Purpose: Tamoxifen has been the mainstay adjuvant hormonal treatment for breast cancer for many years. Conversion of tamoxifen to its active metabolite,…”
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Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients
Published in Breast cancer research and treatment (01-06-2012)“…Single nucleotide polymorphisms (SNPs) in the gene encoding aromatase ( CYP19A1 ) have been associated with differential benefit from letrozole treatment in…”
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5
EGFR and KRAS mutational analysis and their correlation to survival in pancreatic and periampullary cancer
Published in Pancreas (01-04-2012)“…Pancreatic and periampullary cancers have a high incidence of activating KRAS mutations. The aim of this study was to determine the incidence of KRAS and EGFR…”
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Pharmacogenetics of aromatase inhibitors
Published in Pharmacogenomics (01-04-2012)“…Aromatase inhibitors (AIs) are an important class of endocrine drugs used in the treatment of early and advanced breast cancer in postmenopausal women. A…”
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7
HtrA1 Inhibits Mineral Deposition by Osteoblasts: REQUIREMENT FOR THE PROTEASE AND PDZ DOMAINS
Published in The Journal of biological chemistry (29-02-2008)“…HtrA1 is a secreted multidomain protein with serine protease activity. In light of increasing evidence implicating this protein in the regulation of skeletal…”
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8
Breast cancer susceptibility variants alter risks in familial disease
Published in Journal of medical genetics (01-02-2010)“…Recent candidate and genome-wide association studies have identified variants altering susceptibility to breast cancer. To establish the relevance of these…”
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Involvement of SMARCB1 in Inherited Predisposition to Schwannoma, Meningioma and Rhabdoid Tumours
Published in Cancer genetics (01-09-2014)Get full text
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10
UGT1A128 genotype predicts gastrointestinal toxicity in patients treated with intermediate-dose irinotecan
Published in Pharmacogenomics (01-05-2009)“…Variants in UGT1A1 have previously been associated with toxicity from irinotecan chemotherapy. We conducted a pragmatic prospective cohort study to establish…”
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Involvement of the SWI/SNF Complex in Familial Meningiomatosis
Published in Cancer genetics (01-09-2014)Get full text
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12
Exacerbation of hereditary warfarin resistance by azathioprine
Published in Clinical and applied thrombosis/hemostasis (01-06-2011)“…A 39-year-old Afro-Caribbean man with Crohn disease with recurrent deep vein thromboses and pulmonary emboli was commenced on lifelong warfarin treatment. The…”
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13
Isolated unilateral vestibular schwannomas do not harbor HRAS mutations
Published in American journal of medical genetics. Part A (01-06-2010)Get full text
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14
HtrA1 Inhibits Mineral Deposition by Osteoblasts
Published in The Journal of biological chemistry (29-02-2008)“…HtrA1 is a secreted multidomain protein with serine protease activity. In light of increasing evidence implicating this protein in the regulation of skeletal…”
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15
Urinary tract effects of HPSE2 mutations
Published in Journal of the American Society of Nephrology (01-04-2015)“…Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding…”
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SMARCB1 mutations are not a common cause of multiple meningiomas
Published in Journal of medical genetics (01-08-2010)“…Schwannomas and meningiomas are both part of the tumour spectrum of neurofibromatosis type 2 (NF2) and are associated with somatic loss of chromosome 22. They…”
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Abstract A35: SMARCE1 mutations cause inherited multiple spinal meningiomas
Published in Cancer research (Chicago, Ill.) (01-07-2013)“…Abstract Meningiomas represent approximately one third of all primary central nervous system tumors in adults. Multiple meningiomas are usually associated with…”
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HtrA1-a serine protease that regulates vascular calcification
Published in Matrix biology (01-12-2008)Get full text
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Identification of Key Regulators of Chondrocyte Hypertrophy
Published 01-01-2004“…During the pathogenesis of osteoarthritis (OA), certain genes that are characteristically expressed by hypertrophic chondrocytes of the growth plate (e.g type…”
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Dissertation