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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
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
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
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
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
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
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
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
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
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
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
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
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
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

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