Works by Howles, Sarah A.

Results: 21

Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1749

By:

Jabalameli, M. Reza;
Fitzpatrick, Fiona M.;
Colombo, Roberto;
Howles, Sarah A.;
Leggatt, Gary;
Walker, Valerie;
Wiberg, Akira;
Kunji, Edmund R. S.;
Ennis, Sarah

Publication type:

Article

Causal inference in health and disease: a review of the principles and applications of Mendelian randomization.

Published in:

Journal of Bone & Mineral Research, 2024, v. 39, n. 11, p. 1539, doi. 10.1093/jbmr/zjae136

By:

Lovegrove, Catherine E;
Howles, Sarah A;
Furniss, Dominic;
Holmes, Michael V

Publication type:

Article

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Published in:

Journal of Bone & Mineral Research, 2023, v. 38, n. 6, p. 907, doi. 10.1002/jbmr.4803

By:

Howles, Sarah A.;
Gorvin, Caroline M.;
Cranston, Treena;
Rogers, Angela;
Gluck, Anna K.;
Boon, Hannah;
Gibson, Kate;
Rahman, Mushtaqur;
Root, Allen;
Nesbit, M. Andrew;
Hannan, Fadil M.;
Thakker, Rajesh V.

Publication type:

Article

Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 549, doi. 10.1210/clinem/dgad494

By:

Cuny, Thomas;
Romanet, Pauline;
Goldsworthy, Michelle;
Guérin, Carole;
Wilkin, Marie;
Roche, Philippe;
Sebag, Frédéric;
Summeren, Lynn E van;
Stevenson, Mark;
Howles, Sarah A;
Deharo, Jean-Claude;
Thakker, Rajesh V;
Taïeb, David

Publication type:

Article

Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms.

Published in:

International Journal of Cancer, 2025, v. 156, n. 5, p. 980, doi. 10.1002/ijc.35264

By:

English, Katherine A.;
Goldsworthy, Michelle;
Willis, Brittannie;
Kooblall, Kreepa G.;
Birla, Shweta;
Selberherr, Andreas;
Stevenson, Mark;
Shariq, Omair A.;
Oberg, Ann L.;
Wang, Tony;
Carmichael, James;
Mavrommatis, Konstantinos;
Escoubet, Laure;
Thakker, Rajesh V.;
Howles, Sarah A.;
Lines, Kate E.

Publication type:

Article

Genetic variants of calcium and vitamin D metabolism in kidney stone disease.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-13145-x

By:

Howles, Sarah A.;
Wiberg, Akira;
Goldsworthy, Michelle;
Bayliss, Asha L.;
Gluck, Anna K.;
Ng, Michael;
Grout, Emily;
Tanikawa, Chizu;
Kamatani, Yoichiro;
Terao, Chikashi;
Takahashi, Atsushi;
Kubo, Michiaki;
Matsuda, Koichi;
Thakker, Rajesh V.;
Turney, Benjamin W.;
Furniss, Dominic

Publication type:

Article

Urology never events in the United Kingdom: A retrospective 10‐year review.

Published in:

BJUI Compass, 2024, v. 5, n. 5, p. 433, doi. 10.1002/bco2.331

By:

Loyala, Jerocin Vishani;
Ang, Andrew;
Down, Billy;
Howles, Sarah A.

Publication type:

Article

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Published in:

Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797

By:

Piret, Sian E;
Gorvin, Caroline M;
Pagnamenta, Alistair T;
Howles, Sarah A;
Cranston, Treena;
Rust, Nigel;
Nesbit, M Andrew;
Glaser, Ben;
Taylor, Jenny C;
Buchs, Andreas E;
Hannan, Fadil M;
Thakker, Rajesh V

Publication type:

Article

Kidney Stones: A Fetal Origins Hypothesis.

Published in:

Journal of Bone & Mineral Research, 2013, v. 28, n. 12, p. 2535, doi. 10.1002/jbmr.1993

By:

Howles, Sarah A;
Edwards, Mark H;
Cooper, Cyrus;
Thakker, Rajesh V

Publication type:

Article

Matched pair analysis of wide versus narrow focus during shockwave lithotripsy for urolithiasis.

Published in:

Urolithiasis, 2024, v. 53, n. 1, p. 1, doi. 10.1007/s00240-024-01682-0

By:

Sharp, Anna J.;
Lovegrove, Catherine E.;
Sreekumar, Roshan;
Spencer, Mandy;
Turney, Benjamin W.;
Howles, Sarah A.

Publication type:

Article

Lack of effectiveness of botulinum neurotoxin A on isolated detrusor strips and whole bladders from mice and guinea-pigs in vitro.

Published in:

BJU International, 2009, v. 104, n. 10, p. 1524, doi. 10.1111/j.1464-410X.2009.08619.x

By:

Howles, Sarah;
Curry, Jonathan;
McKay, Ian;
Reynard, John;
Brading, Alison F.

Publication type:

Article

Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.

Published in:

Current Urology Reports, 2024, v. 25, n. 12, p. 311, doi. 10.1007/s11934-024-01225-5

By:

Geraghty, Robert;
Lovegrove, Catherine;
Howles, Sarah;
Sayer, John A.

Publication type:

Article

Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.

Published in:

2022

By:

Howles, Sarah A.;
Wiberg, Akira;
Goldsworthy, Michelle;
Bayliss, Asha L.;
Gluck, Anna K.;
Ng, Michael;
Grout, Emily;
Tanikawa, Chizu;
Kamatani, Yoichiro;
Terao, Chikashi;
Takahashi, Atsushi;
Kubo, Michiaki;
Matsuda, Koichi;
Thakker, Rajesh V.;
Turney, Benjamin W.;
Furniss, Dominic

Publication type:

Correction Notice

Pregnancy and parenthood in surgical training: a cross-sectional survey in the UK.

Published in:

British Journal of Surgery, 2023, v. 110, n. 12, p. 1628, doi. 10.1093/bjs/znad204

By:

Whitburn, Jessica;
Miah, Saiful;
Howles, Sarah A.

Publication type:

Article

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Published in:

Nature Genetics, 2013, v. 45, n. 1, p. 93, doi. 10.1038/ng.2492

By:

Nesbit, M Andrew;
Hannan, Fadil M;
Howles, Sarah A;
Reed, Anita A C;
Cranston, Treena;
Thakker, Clare E;
Gregory, Lorna;
Rimmer, Andrew J;
Rust, Nigel;
Graham, Una;
Morrison, Patrick J;
Hunter, Steven J;
Whyte, Michael P;
McVean, Gil;
Buck, David;
Thakker, Rajesh V

Publication type:

Article

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Published in:

2014

By:

Rogers, Angela;
Nesbit, M Andrew;
Hannan, Fadil M;
Howles, Sarah A;
Gorvin, Caroline M;
Cranston, Treena;
Allgrove, Jeremy;
Bevan, John S;
Bano, Gul;
Brain, Caroline;
Datta, Vipan;
Grossman, Ashley B;
Hodgson, Shirley V;
Izatt, Louise;
Millar-Jones, Lynne;
Pearce, Simon H;
Robertson, Lisa;
Selby, Peter L;
Shine, Brian;
Snape, Katie

Publication type:

journal article

Impact of COVID‐19 on the management and outcomes of ureteric stones in the UK: a multicentre retrospective study.

Published in:

BJU International, 2023, v. 131, n. 1, p. 82, doi. 10.1111/bju.15882

By:

Byrne, Matthew H.V.;
Georgiades, Fanourios;
Light, Alexander;
Lovegrove, Catherine E.;
Dominic, Catherine;
Rahman, Josephine;
Kathiravelupillai, Senthooran;
Klatte, Tobias;
Saeb‐Parsy, Kasra;
Kumar, Rajeev;
Howles, Sarah;
Stewart, Grant D.;
Turney, Ben;
Wiseman, Oliver;
Mokadem, Ismail;
Kostakopoulos, Nikolaos;
Kounidas, Georgios;
Thakare, Niyukta;
Lo, Andre Chu Qiao;
Abu‐Nayla, Islam

Publication type:

Article

Suprapubic catheterisation: a study of 1000 elective procedures.

Published in:

BJU International, 2022, v. 129, n. 6, p. 760, doi. 10.1111/bju.15727

By:

Hobbs, Catherine;
Howles, Sarah;
Derry, Fadel;
Reynard, John

Publication type:

Article

Natural history of small asymptomatic kidney and residual stones over a long‐term follow‐up: systematic review over 25 years.

Published in:

BJU International, 2022, v. 129, n. 4, p. 442, doi. 10.1111/bju.15522

By:

Lovegrove, Catherine E.;
Geraghty, Robert M.;
Yang, Bingyuan;
Brain, Eleanor;
Howles, Sarah;
Turney, Ben;
Somani, Bhaskar

Publication type:

Article

Utility of blood tests in screening for metabolic disorders in kidney stone disease.

Published in:

BJU International, 2021, v. 127, n. 5, p. 538, doi. 10.1111/bju.15250

By:

Eyre, Katie S.;
Lewis, Francesca;
Cui, Helen;
Grout, Emily;
Mihai, Radu;
Turney, Benjamin W.;
Howles, Sarah A.

Publication type:

Article

Flexible Cystoscopy Findings in Patients Investigated for Profound Lower Urinary Tract Symptoms, Recurrent Urinary Tract Infection, and Pain.

Published in:

Journal of Endourology, 2012, v. 26, n. 11, p. 1468, doi. 10.1089/end.2012.0139

By:

Howles, Sarah;
Tempest, Heidi;
Doolub, Gemina;
Bryant, Richard J.;
Hamdy, Freddie C.;
Noble, Jeremy G.;
Larré, Stephane

Publication type:

Article