C. Brain

发表

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

S. Robertson, M. Simpson, R. Trembath, 2011, Nature Genetics.

Sexually dimorphic and radiation dose dependent effect of cranial irradiation on body mass index

S. Nussey, C. Brain, R. Stanhope, 1999, Archives of disease in childhood.

Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2

C. Brain, C. Morkane, F. Prete, 2009, The British journal of surgery.

Treating papillary and follicular thyroid cancer in children and young people: Single UK-center experience between 2003 and 2018.

M. Dattani, P. Hindmarsh, M. Gaze, 2020, Journal of pediatric surgery.

THE APPLICATION OF DECONVOLUTION ANALYSIS TO ELUCIDATE THE PULSATILE NATURE OF GROWTH HORMONE SECRETION USING A VARIABLE HALF‐LIFE OF GROWTH HORMONE

P. Hindmarsh, D. Matthews, C. Brain, 1990, Clinical endocrinology.

Classical Galactosaemia and Bone Mineral Density

C. Brain, S. Grunewald, Mildrid Yeo, 2020 .

Galactosaemia an update

C. Brain, A. Broomfield, S. Grunewald, 2011 .

Galactosaemia: diagnosis, management and long-term outcome

C. Brain, A. Broomfield, S. Grunewald, 2015 .

Proopiomelanocortin products and human early-onset obesity.

S. Nussey, S. O’Rahilly, C. Brain, 1999, The Journal of clinical endocrinology and metabolism.

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

S. Pearce, C. Brain, S. Hodgson, 2014, The Journal of clinical endocrinology and metabolism.

THE HALF‐LIFE OF EXOGENOUS GROWTH HORMONE AFTER SUPPRESSION OF ENDOGENOUS GROWTH HORMONE SECRETION WITH SOMATOSTATIN

P. Hindmarsh, D. Matthews, C. Brain, 1989, Clinical endocrinology.

Hypocalcaemia and vitamin D deficiency: an important, but preventable, cause of life-threatening infant heart failure

M. Burch, C. Brain, Q. Mok, 2007, Heart.

Bone health and SATB2‐associated syndrome

J. Fish, W. Wasserman, C. Brain, 2018, Clinical genetics.

CONTINUOUS SUBCUTANEOUS GROWTH HORMONE RELEASING FACTOR ANALOGUE AUGMENTS GROWTH HORMONE SECRETION IN NORMAL MALE SUBJECTS WITH NO DESENSITIZATION OF THE SOMATOTROPH

P. Hindmarsh, D. Matthews, C. Brain, 1988, Clinical Endocrinology.

Surgical treatment of children with hyperparathyroidism: single centre experience.

M. Dattani, P. Hindmarsh, C. Brain, 2011, Journal of pediatric surgery.

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

C. Brain, M. Nesbit, R. Thakker, 2010, The Journal of clinical endocrinology and metabolism.

Metabolic Status of Children with Growth Hormone Insensitivity Syndrome and Responses to Treatment with IGF-I

C. Brain, M. Preece, M. Savage, 1998, Hormone Research in Paediatrics.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

J. Lupski, G. Braunstein, F. Faucz, 2015, European journal of endocrinology.

Impaired generation of cyclic adenosine 3',5'-monophosphate in a somatomammotroph cell line derived from dwarf (dw) rat anterior pituitaries.

P. Chomczyński, C. Brain, L. Frohman, 1991, Endocrinology.

Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.

C. Brain, J. Kirk, D. Grant, 1999, The Journal of pediatrics.

Contiguous gene deletion of TBX5 and TBX3: report of another case.

R. Scott, C. Brain, P. Foley, 2017, Clinical dysmorphology.

Growth and puberty in chronic inflammatory bowel disease.

C. Brain, M. Savage, 1994, Bailliere's clinical gastroenterology.

Treatment outcome with a selective RET tyrosine kinase inhibitor selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid carcinoma.

M. Gaze, C. Brain, I. Proctor, 2021, European journal of cancer.

CONTINUOUS SUBCUTANEOUS GHRH(1‐29)NH2 PROMOTES GROWTH OVER 1 YEAR IN SHORT, SLOWLY GROWING CHILDREN

P. Hindmarsh, C. Brain, C. Brook, 1990, Clinical endocrinology.

Use of Continuous Subcutaneous Growth Hormone‐Releasing Hormone (GHRH (1–29)NH2) Infusions to Augment Growth Hormone Secretion and to Promote Growth

P. Hindmarsh, C. Brain, C. Brook, 1989, Acta paediatrica Scandinavica. Supplement.

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

M. Dattani, P. Hindmarsh, C. Brain, 2007, Clinical endocrinology.

Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.

J. Wilson, J. Griffin, C. Brain, 1998, Molecular endocrinology.

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

J. Wilson, J. Griffin, C. Brain, 1995, Human molecular genetics.

Bone mineralization in children with epidermolysis bullosa

C. Brain, J. Mellerio, M. Fewtrell, 2005, The British journal of dermatology.

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

A. Tabarin, E. Baudin, C. Eng, 2019, The lancet. Diabetes & endocrinology.

A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)

M. Dattani, P. Hindmarsh, C. Brain, 2022, Journal of the Endocrine Society.

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

M. Dattani, P. Hindmarsh, C. Brain, 2016, European Journal of Pediatrics.

Holistic management of DSD

C. Brain, J. Honour, A. Barnicoat, 2010, Best practice & research. Clinical endocrinology & metabolism.

Early assessment of ambiguous genitalia

C. Brain, A. Ogilvy-Stuart, 2004, Archives of Disease in Childhood.

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

P. Hindmarsh, R. Lindsay, C. Brain, 2018, Journal of the Endocrine Society.

A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity.

C. Brain, S. Wu, W. Chan, 1999, Molecular genetics and metabolism.

Testicular–Epididymal Dissociation: Vas and Vessels May “Lead up the Garden Path”

C. Brain, E. Monti, E. Papageorgiou, 2019, European journal of pediatric surgery reports.

The use of the hCG stimulation test in the endocrine evaluation of cryptorchidism.

M. Davenport, C. Brain, C. Vandenberg, 1995, British journal of urology.

Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.

Gerard Conway, Peter Hindmarsh, Sarah Creighton, 2003, The Journal of clinical endocrinology and metabolism.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Children are at a High Risk of Hypocalcaemia and Hypoparathyroidism after Total Thyroidectomy.

C. Brain, R. Hewitt, T. Kurzawinski, 2020, Journal of pediatric surgery.

Thyroid Surgery in Children: Clinical Outcomes

M. Dattani, P. Hindmarsh, C. Brain, 2014, European journal of pediatric surgery.

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

C. Brain, C. Butler, R. Hewitt, 2021, Hormone Research in Paediatrics.

Prenatal hormones and postnatal socialization by parents as determinants of male-typical toy play in girls with congenital adrenal hyperplasia.

P. Hindmarsh, C. Brain, M. Hines, 2005, Child development.

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

J. Connell, B. Harding, Jenny J. Yang, 2012, Human molecular genetics.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

M. Dattani, Luz Garcia-Alonso, G. Livera, 2022, JCI insight.

International Society for Pediatric and Adolescent Diabetes

V. Tillmann, D. Jacqmin, S. Bernasconi, 1998, Hormone Research in Paediatrics.

A history of acute suppurative otitis media and allergic symptomatology in children with chronic secretory otitis media and controls.

R. Mills, C. Brain, Robert Mills, 1985, Clinical otolaryngology and allied sciences.

Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children.

M. Dattani, P. Hindmarsh, C. Brain, 2003, The Journal of clinical endocrinology and metabolism.

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management

C. Brain, M. J. Dillon, C. Bailey, 1996, The Journal of Laryngology & Otology.

Idiosyncratic reactions to carbamazepine mimicking viral infection in children.

C. Brain, S. Levin, B. Mac Ardle, 1984, British medical journal.

Prenatal hormones and childhood sex segregation: Playmate and play style preferences in girls with congenital adrenal hyperplasia

P. Hindmarsh, C. Brain, M. Hines, 2011, Hormones and Behavior.

The interaction of growth hormone releasing hormone and somatostatin in the generation of a GH pulse in man

P. Hindmarsh, C. Brain, I. Robinson, 1991, Clinical endocrinology.

Title: MANAGEMENT OF CUSHING SYNDROME IN CHILDREN AND ADOLESCENTS: EXPERIENCE OF A SINGLE TERTIARY CENTRE Short title: Cushing syndrome in children and adolescents

M. Dattani, P. Hindmarsh, C. Brain, 2016 .

Efficient Short-Term Control of Hypercortisolaemia by Low-Dose Etomidate in Severe Paediatric Cushing’s Disease

C. Brain, A. Grossman, I. Mushtaq, 2005, Hormone Research in Paediatrics.

Acute biochemical effects of growth hormone treatment compared with conventional treatment in familial hypophosphataemic rickets

G. Addison, C. Brain, L. Patel, 1996, Clinical endocrinology.

The pituitary gland is capable of responding to two successive doses of growth hormone releasing hormone (GHRH)

P. Hindmarsh, C. Brain, C. Brook, 1991, Clinical endocrinology.

Physiological levels of growth hormone fail to suppress growth hormone releasing hormone (1–29) NH2-stimulated growth hormone secretion in man

P. Hindmarsh, C. Brain, C. Brook, 1993, Journal of endocrinological investigation.

Chromosomal variations in children and adolescents with gender dysphoria: is routine karyotyping indicated?

R. Viner, C. Brain, T. Mushtaq, 2015 .

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

I. Grigorieva, L. Southam, C. Brain, 2010, Human molecular genetics.

Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH)

P. Hindmarsh, C. Brain, M. Hines, 2007, Hormones and Behavior.

Cushing syndrome associated with an adrenal tumour

C. Brain, H. Vieira, Helena Vieira, 2012, BMJ Case Reports.

Tinnitus in childhood.

C. Brain, R. Mills, D. Albert, 1986, Clinical otolaryngology and allied sciences.

THE INTERACTION BETWEEN CLONIDINE AND GROWTH HORMONE RELEASING HORMONE IN THE STIMULATION OF GROWTH HORMONE SECRETION IN MAN

P. Hindmarsh, C. Brain, P. Pringle, 1990, Clinical endocrinology.

Congenital malaria in one identical twin.

C. Brain, S. Davies, D. Cummins, 1990, Journal of clinical pathology.

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

S. Eaton, C. Brain, K. Hussain, 2012, Hormone Research in Paediatrics.

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

M. Dattani, P. Hindmarsh, C. Brain, 2009, The Journal of clinical endocrinology and metabolism.

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

C. Brain, M. Fewtrell, G. Butler, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Intravenous zoledronic acid (ZOL) compared to IV pamidronate (PAM) in children with severe osteogenesis imperfecta (OI)

I. Kaitila, F. Glorieux, H. Plotkin, 2008 .

Elemental formula associated hypophosphataemic rickets.

C. Brain, W. Högler, M. Tighe, 2019, Clinical nutrition.

Growth and pubertal delay in patients with epidermolysis bullosa.

C. Brain, J. Allgrove, Anna E. Martinez, 2010, Dermatologic clinics.

Girls with virilisation in childhood: a diagnostic protocol for investigation.

C. Brain, A. Weber, A. Cotterill, 1997, Journal of Clinical Pathology.

Early assessment of ambiguous genitalia

C. Brain, A. Ogilvy-Stuart, 2004, Archives of Disease in Childhood.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

J. Lupski, G. Braunstein, F. Faucz, 2015, European journal of endocrinology.