[HTML][HTML] NT5E Mutations and Arterial Calcifications

…, C Arduino, C Mancini, B Freudenthal… - … England Journal of …, 2011 - Mass Medical Soc
Background Arterial calcifications are associated with increased cardiovascular risk, but the
genetic basis of this association is unclear. Methods We performed clinical, radiographic, …

Renal biopsy in the very elderly

…, GB Appel, GS Markowitz, B Freudenthal… - Clinical Journal of the …, 2009 - journals.lww.com
Renal Biopsy in the Very Elderly : Clinical Journal of the American Society of Nephrology
Renal Biopsy in the Very Elderly : Clinical Journal of the American Society of Nephrology ASN …

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

…, S Feather, HC Stanescu, B Freudenthal… - The Journal of …, 2011 - Wiley Online Library
Non‐technical summary Light stimulates ion flow through the retina. This generates a
potential change at the cornea which is recorded as an electroretinogram (ERG). Our …

KCNJ10 mutations disrupt function in patients with EAST syndrome

B Freudenthal, D Kulaveerasingam, L Lingappa… - Nephron …, 2011 - karger.com
Background/Aims: Mutations in the inwardly-rectifying K+ channel KCNJ10/Kir4. 1 cause an
autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and …

Assessment and management of anti-insulin autoantibodies in varying presentations of insulin autoimmune syndrome

…, RG Kay, CL Williams, B Freudenthal… - The Journal of …, 2018 - academic.oup.com
Context Insulin autoimmune syndrome (IAS), spontaneous hyperinsulinemic hypoglycemia
due to insulin-binding autoantibodies, may be difficult to distinguish from tumoral or other …

Rapid phenotyping of knockout mice to identify genetic determinants of bone strength

B Freudenthal, J Logan, PI Croucher… - The Journal of …, 2016 - joe.bioscientifica.com
The genetic determinants of osteoporosis remain poorly understood, and there is a large
unmet need for new treatments in our ageing society. Thus, new approaches for gene …

Genetic and pharmacological targeting of transcriptional repression in resistance to thyroid hormone alpha

B Freudenthal, S Shetty, NC Butterfield, JG Logan… - Thyroid, 2019 - liebertpub.com
Background: Thyroid hormones act in bone and cartilage via thyroid hormone receptor alpha
(TRα). In the absence of triiodothyronine (T3), TRα interacts with co-repressors, including …

Comparison of fracture risk calculators in elderly fallers: a hospital-based cross-sectional study

…, S Brook, NQQ Xian, S Von Widekind, B Freudenthal… - BMJ open, 2022 - bmjopen.bmj.com
Objective Elderly patients presenting with falls are known to carry an extremely high risk of
future fragility fractures. Current osteoporosis guidelines recommend using fracture risk …

[BOOK][B] Studies on Gersonides: A Fourteenth-century Jewish Philosopher-scientifist

G Freudenthal - 1992 - books.google.com
… Ce colloque, intitulé " Gersonide et la science en son temps" et dont le programme scientifique
fut établi par Monsieur Bernard R. Goldstein (Pittsburgh), s' est tenu, avec le soutien …

Misuse of SARS-CoV-2 testing in symptomatic health-care staff in the UK

B Freudenthal - The Lancet, 2020 - thelancet.com
… We thank Bernard Freudenthal for his response to our previous Correspondence.We agree
that … Freudenthal correctly outlines the risks, posed by falsenegative results, of advising poten…