Michael R Bowl

Michael R Bowl

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Michael R Bowl

Michael R Bowl

Publications by authors named "Michael R Bowl"

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Age-Related Hearing Loss.

Cold Spring Harb Perspect Med 2019 Aug 1;9(8). Epub 2019 Aug 1.

UCL Ear Institute, University College London, London WC1X 8EE, United Kingdom.

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http://perspectivesinmedicine.cshlp.org/lookup/doi/10.1101/c
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http://dx.doi.org/10.1101/cshperspect.a033217DOI Listing
August 2019

Genetic landscape of auditory dysfunction.

Hum Mol Genet 2018 08;27(R2):R130-R135

Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Oxfordshire, UK.

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http://dx.doi.org/10.1093/hmg/ddy158DOI Listing
August 2018

Light and Electron Microscopy Methods for Examination of Cochlear Morphology in Mouse Models of Deafness.

Curr Protoc Mouse Biol 2016 Sep 1;6(3):272-306. Epub 2016 Sep 1.

Mammalian Genetics Unit, MRC Harwell, Oxfordshire, United Kingdom.

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http://dx.doi.org/10.1002/cpmo.10DOI Listing
September 2016

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.

Am J Pathol 2016 07 18;186(7):1925-1938. Epub 2016 May 18.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye & Ear Infirmary, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929402PMC
July 2016

The mouse as a model for age-related hearing loss - a mini-review.

Gerontology 2015 28;61(2):149-57. Epub 2014 Nov 28.

Mammalian Genetics Unit, MRC Harwell, Harwell Oxford, UK.

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http://dx.doi.org/10.1159/000368399DOI Listing
November 2015

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

J Clin Endocrinol Metab 2010 Jul 12;95(7):3512-6. Epub 2010 May 12.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism (OCDEM), Churchill Hospital, Headington Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1210/jc.2009-2532DOI Listing
July 2010

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Hum Mol Genet 2010 May 27;19(10):2028-38. Epub 2010 Feb 27.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1093/hmg/ddq084DOI Listing
May 2010

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Hum Mutat 2010 Mar;31(3):295-307

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, United Kingdom.

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http://doi.wiley.com/10.1002/humu.21188
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http://dx.doi.org/10.1002/humu.21188DOI Listing
March 2010

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia.

Endocr Relat Cancer 2009 Dec 20;16(4):1313-27. Epub 2009 Jul 20.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1677/ERC-09-0082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439740PMC
December 2009

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.

J Endocrinol 2009 Oct 8;203(1):133-42. Epub 2009 Jul 8.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1677/JOE-09-0124DOI Listing
October 2009

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.

J Clin Endocrinol Metab 2009 Oct 21;94(10):3640-6. Epub 2009 Jul 21.

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology, and Metabolism (OCDEM), Churchill Hospital, Headington Oxford, OX3 7LJ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2009-0564DOI Listing
October 2009

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.

Clin Endocrinol (Oxf) 2006 Nov;65(5):598-605

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology, and Metabolism (OCDEM), University of Oxford, Churchill Hospital, Headington, Oxford, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2006.02634.xDOI Listing
November 2006

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

J Clin Invest 2005 Oct 15;115(10):2822-31. Epub 2005 Sep 15.

Academic Endocrine Unit, Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Oxford, United Kingdom.

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http://www.jci.org/articles/view/24156
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http://dx.doi.org/10.1172/JCI24156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1201662PMC
October 2005

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.

Genomics 2004 Dec;84(6):1060-70

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1016/j.ygeno.2004.08.003DOI Listing
December 2004

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

J Biol Chem 2004 May 24;279(21):22624-34. Epub 2004 Feb 24.

Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford OX3 7LJ, United Kingdom.

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http://hmg.oxfordjournals.org/content/16/3/265.full.pdf
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http://www.jbc.org/lookup/doi/10.1074/jbc.M401797200
Publisher Site
http://dx.doi.org/10.1074/jbc.M401797200DOI Listing
May 2004