Works matching AU Brain, Caroline

Results: 22

Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.

Published in:

2016

By:

Güemes, Maria;
Murray, Philip;
Brain, Caroline;
Spoudeas, Helen;
Peters, Catherine;
Hindmarsh, Peter;
Dattani, Mehul;
Güemes, Maria;
Murray, Philip G;
Brain, Caroline E;
Spoudeas, Helen A;
Peters, Catherine J;
Hindmarsh, Peter C;
Dattani, Mehul T

Publication type:

journal article

Availability, Usage, and Preferences of Estradiol and Progestogen Preparations for Puberty Induction from a Multicentral Perspective.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 327, doi. 10.1159/000539236

By:

Gawlik-Starzyk, Aneta M.;
Więcek, Małgorzata;
Matthews, Debbie;
Kriström, Berit Öhman;
van der Velden, Janielle A.E.M.;
Sas, Theo C.J.;
Wasniewska, Malgorzata;
Verlinde, Siska;
Brain, Caroline;
Smyth, Arlene;
Donaldson, Malcolm David Cairns

Publication type:

Article

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 1, p. 201, doi. 10.1210/js.2018-00130

By:

Maharaj, Avinaash;
Buonocore, Federica;
Meimaridou, Eirini;
Ruiz-Babot, Gerard;
Guasti, Leonardo;
Peng, Hwei-Ming;
Capper, Cameron P;
Burgos-Tirado, Neikelyn;
Prasad, Rathi;
Hughes, Claire R;
Maudhoo, Ashwini;
Crowne, Elizabeth;
Cheetham, Timothy D;
Brain, Caroline E;
Suntharalingham, Jenifer P;
Striglioni, Niccolò;
Yuksel, Bilgin;
Gurbuz, Fatih;
Gupta, Sangay;
Lindsay, Robert

Publication type:

Article

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

Published in:

Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779

By:

Simpson, Michael A.;
Irving, Melita D.;
Asilmaz, Esra;
Gray, Mary J.;
Dafou, Dimitra;
Elmslie, Frances V.;
Mansour, Sahar;
Holder, Sue E.;
Brain, Caroline E.;
Burton, Barbara K.;
Kim, Katherine H.;
Pauli, Richard M.;
Aftimos, Salim;
Stewart, Helen;
Kim, Chong Ae;
Holder-Espinasse, Muriel;
Robertson, Stephen P.;
Drake, William M.;
Trembath, Richard C.

Publication type:

Article

Is the Thyrotropin-Releasing Hormone Test Necessary in the Diagnosis of Central Hypothyroidism in Children.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 12, p. 5696, doi. 10.1210/jc.2003-030943

By:

MEHTA, AMEETA;
HINDMARSH, PETER C.;
STANHOPE, RICHARD G.;
BRAIN, CAROLINE E.;
PREECE, MICHAEL A.;
DATTANI, MEHUL T.

Publication type:

Article

Regarding the Consensus Statement on 21- Hydroxylase Deficiency from the Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3455, doi. 10.1210/jc.2003-030127

By:

Creighton, Sarah;
Ransley, Philip;
Duffy, Patrick;
Wilcox, Duncan;
Mushtaq, Imran;
Cuckow, Peter;
Woodhouse, Christopher;
Minto, Catherine;
Crouch, Naomi;
Stanhope, Richard;
Hughes, Ieuan;
Dattani, Mehul;
Hindmarsh, Peter;
Brain, Caroline;
Achermann, John;
Conway, Gerard;
Lih Mei Liao;
Barnicoat, Angela;
Perry, Les

Publication type:

Article

Proopiomelanocortin products and human early-onset obesity.

Published in:

1999

By:

Jackson, Robert S.;
O'Rahilly, Stephen;
Brain, Caroline;
Nussey, Stephen S.

Publication type:

Case Study

Variability of response to early puberty induction demonstrated by transverse uterine diameter measurement and a novel method of 3D breast imaging.

Published in:

Clinical Endocrinology, 2022, v. 97, n. 1, p. 91, doi. 10.1111/cen.14740

By:

Burt, Elizabeth;
Yasmin, Ephia;
Davies, Melanie C;
Creighton, Sarah;
Brain, Caroline;
Ruff, Clifford;
Learner, Hazel Isabella;
Williams, Louise;
Cameron‐Pimblett, Antoinette;
Talaulikar, Vikram;
Conway, Gerard

Publication type:

Article

Cover Image, Volume 176A, Number 4, April 2018.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671

By:

Zarate, Yuri A.;
Smith‐Hicks, Constance L.;
Greene, Carol;
Abbott, Mary‐Alice;
Siu, Victoria M.;
Calhoun, Amy R. U. L.;
Pandya, Arti;
Li, Chumei;
Sellars, Elizabeth A.;
Kaylor, Julie;
Bosanko, Katherine;
Kalsner, Louisa;
Basinger, Alice;
Slavotinek, Anne M.;
Perry, Hazel;
Saenz, Margarita;
Szybowska, Marta;
Wilson, Louise C.;
Kumar, Ajith;
Brain, Caroline

Publication type:

Article

Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630

By:

Zarate, Yuri A.;
Smith‐Hicks, Constance L.;
Greene, Carol;
Abbott, Mary‐Alice;
Siu, Victoria M.;
Calhoun, Amy R. U. L.;
Pandya, Arti;
Li, Chumei;
Sellars, Elizabeth A.;
Kaylor, Julie;
Bosanko, Katherine;
Kalsner, Louisa;
Basinger, Alice;
Slavotinek, Anne M.;
Perry, Hazel;
Saenz, Margarita;
Szybowska, Marta;
Wilson, Louise C.;
Kumar, Ajith;
Brain, Caroline

Publication type:

Article

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 8, p. 1429

By:

Laue, Louisa;
Wu, Shao-Ming;
Kudo, Masataka;
Hsueh, Aaron J.W.;
Cutler, Gordon B.;
Griffin, James E.;
Wilson, Jean D.;
Brain, Caroline;
Berry, A.Caroline;
Grant, David B.;
Chan, Wai-Yee

Publication type:

Article

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105

By:

Hannan, Fadil M.;
Nesbit, M. Andrew;
Zhang, Chen;
Cranston, Treena;
Curley, Alan J.;
Harding, Brian;
Fratter, Carl;
Rust, Nigel;
Christie, Paul T.;
Turner, Jeremy J.O.;
Lemos, Manuel C.;
Bowl, Michael R.;
Bouillon, Roger;
Brain, Caroline;
Bridges, Nicola;
Burren, Christine;
Connell, John M.;
Jung, Heike;
Marks, Eileen;
McCredie, David

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2028, doi. 10.1093/hmg/ddq084

By:

Bowl, Michael R.;
Mirczuk, Samantha M.;
Grigorieva, Irina V.;
Piret, Sian E.;
Cranston, Treena;
Southam, Lorraine;
Allgrove, Jeremy;
Bahl, Shailini;
Brain, Caroline;
Loughlin, John;
Mughal, Zulf;
Ryan, Fiona;
Shaw, Nick;
Thakker, Yogini V.;
Tiosano, Dov;
Nesbit, M. Andrew;
Thakker, Rajesh V.

Publication type:

Article

Significance of ectopic intrathyroidal thymic tissue detected on ultrasound in different paediatric age groups: a proposed classification to guide investigation and management.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 5, p. 1, doi. 10.1007/s00431-025-06121-9

By:

Jeffery, Hannah;
Bosch, Karen D.;
Brain, Caroline;
Kurzawinski, Tom;
Beale, Tim;
Kowa, Xin-Ying;
Aziz, Tarek Abdel

Publication type:

Article

Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 1, p. 107, doi. 10.1515/jpem-2019-0045

By:

Ghelani, Rahul;
Lim, Cheryl;
Brain, Caroline;
Fewtrell, Mary;
Butler, Gary

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

A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3512, doi. 10.1210/jc.2009-2532

By:

Mirczuk, Samantha M.;
Bowl, Michael R.;
Nesbit, M. Andrew;
Cranston, Treena;
Fratter, Carl;
Allgrove, Jeremy;
Brain, Caroline;
Thakker, Rajesh V.

Publication type:

Article

Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 10, p. 3959, doi. 10.1210/jc.2009-0322

By:

Alatzoglou, Kyriaki S.;
Hindmarsh, Peter C.;
Brain, Caroline;
Torpiano, John;
Dattani, Mehul T.

Publication type:

Article

Prenatal Hormones and Postnatal Socialization by Parents as Determinants of Male-Typical Toy Play in Girls With Congenital Adrenal Hyperplasia.

Published in:

Child Development, 2005, v. 76, n. 1, p. 264, doi. 10.1111/j.1467-8624.2005.00843.x

By:

Pasterski, Vickie L.;
Geffner, Mitchell E.;
Brain, Caroline;
Hindmarsh, Peter;
Brook, Charles;
Hines, Melissa

Publication type:

Article

Late Recovery of Parathyroid Function after Total Thyroidectomy in Children and Adults: Is There a Difference?

Published in:

Hormone Research in Paediatrics, 2020, v. 93, n. 9-10, p. 539, doi. 10.1159/000513768

By:

de Jong, Mechteld C.;
Lorente-Poch, Leyre;
Sancho-Insenser, Joan;
Rozalén García, Virginia;
Brain, Caroline;
Abdel-Aziz, Tarek E.;
Hewitt, Richard J.;
Butler, Colin R.;
Sitges-Serra, Antonio;
Kurzawinski, Tom R.

Publication type:

Article

Severe Resistance to Weight Gain, Lack of Stored Triglycerides in Adipose Tissue, Hypoglycaemia, and Increased Energy Expenditure: A Novel Disorder of Energy Homeostasis.

Published in:

Hormone Research in Paediatrics, 2012, v. 77, n. 4, p. 261, doi. 10.1159/000337248

By:

Padidela, Raja;
Bennett, Kate;
Nessa, Azizun;
Wells, Jonathan;
Aufieri, Roberto;
James, Chela;
Smith, Virpi V.;
Brain, Caroline;
Eaton, Simon;
Hussain, Khalid

Publication type:

Article

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Published in:

Clinical Endocrinology, 2007, v. 66, n. 2, p. 205, doi. 10.1111/j.1365-2265.2006.02709.x

By:

Lin, Lin;
Hindmarsh, Peter C.;
Metherell, Louise A.;
Alzyoud, Mahmoud;
Al-Ali, Maryam;
Brain, Caroline E.;
Clark, Adrian J. L.;
Dattani, Mehul T.;
Achermann, John C.

Publication type:

Article