Type 2 diabetes mellitus in people with intellectual disabilities: Examining incidence, risk factors, quality of care and related complications. A population-based matched cohort study
Baksh RA, Pape SE, Chan LF, Sheehan R, White A, Chauhan U, Gulliford MC and Strydom A
Diabetes Research and Clinical Practice, Elsevier vol. 222 
07-03-2025

Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency
Musa SA, Abdullah MA, Hassan SS, Fauzi LS, Babiker OO, Ahmed AI, Mohammedali M, Hutchison C, Mohamadsalih G, Hall CL, Maitra S, Ibrahim AA, Qamar Y, Maharaj AV, Ramirez LMM, Read J, Chan LF, Metherell LA and Smith CJ
European Journal of Endocrinology, Oxford University Press (Oup) vol. 192 (3), 277-289.  
03-03-2025

Rare disease gene association discovery in the 100,000 Genomes Project
Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA and Kleta R
Nature, Springer Nature, 1-9.  
26-02-2025

Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society
Flores-Aguilar L, Hamlett ED, Araya P, Barone E, Bhattacharyya A, Carmona-Iragui M, Chan L, Christian B, Costa ACS, Costanzo F, Del Hoyo Soriano L, Dierssen M, Eichler EE, Fisher E, Galbraith M, Ghosh S, Gimenez S, Guedj F, Guidi S, Iulita MF, Mobley W, Pelleri MC, Potier M-C, Rabin KR, Rachubinski A, Rebillat A-S, Rubenstein E, Saternos H, Sordo L and Strydom A
Neuromolecular Medicine, Springer Nature vol. 27 (1) 
01-01-2025

Bariatric surgery in children with obesity and type 2 diabetes
Desai AP, Vaghani MS and Chan LF
The Lancet Diabetes & Endocrinology, Elsevier vol. 13 (2) 
19-12-2024

6569 An Increase, Rather Than Absolute Amount, Of Corticotropin-Releasing Hormone (Crh) Drives Mouse Anxiety-Like Behavior
Friedman HR, Gaston L, Chan L and Majzoub JA
Journal of The Endocrine Society, The Endocrine Society vol. 8 (Supplement_1) 
05-10-2024

8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan
Smith CJ, Abdullah MA, Hassan SS, Fauzi LS, Qamar Y, Hall CL, Maitra S, Maharaj AV, Ramirez LMM, Read JE, Chan L, Metherell L and Musa SA
Journal of The Endocrine Society, The Endocrine Society vol. 8 (Supplement_1) 
05-10-2024

Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation
Elhassan YS, Appenzeller S, Landwehr L-S, Lippert J, Popat D, Gilligan LC, Abdi L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe RP, Thangaratinam S, Chan LF, Fassnacht M, Arlt W and Ronchi CL
European Journal of Endocrinology, Oxford University Press (Oup) vol. 191 (3), 334-344.  
22-08-2024

A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases
Ramakrishnan A, Popat D, Purushothaman P, Chan LF and Gevers EF
Jcem Case Reports, The Endocrine Society vol. 2 (8) 
24-07-2024

Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation
Elhassan Y, Appenzeller S, Landwehr L-S, Lippert J, Popat D, C. GL, Abdi L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe R, Thangaratinam S, Chan L, Fassnacht M, Arlt W and L RC
Endocrine Abstracts, Bioscientifica 
06-05-2024

A novel maternally inherited GNAS variant in a family with hyperphagia and obesity
Purushothaman P, Popat D, Ramakrishnan A, Chan L and Gevers E
Endocrine Abstracts, Bioscientifica 
01-11-2023

Gain-of-function mutation F278C in MC2R results in reduced beta-1-arrestin recruitment and increased cAMP implicating impairment of S280 phosphorylation
Popat D, Xu R, McCormick P and Chan L
Endocrine Abstracts, Bioscientifica 
31-10-2023

Primary unilateral macronodular adrenal hyperplasia (pumah) with concomitant glucocorticoid and androgen excess due to kdm1a activation and constitute mc2r activation
Elhassan Y, Appenzeller S, Landwehr L, Popat D, Gilligan L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe R, Thangaratinam S, Chan L, Fassnacht M, Arlt W and Ronchi C
Endocrine Abstracts, Bioscientifica 
31-10-2023

Adrenal insufficiency can be associated with biallelic mutations in porphyria genes
Smith C, Al-Salihi A, Janecke A, Steichen E, Banka S, Jackson A, Darby D, Griffin L, Stewart S, Elsayed S, Talbi N, Gouya L, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
31-10-2023

Genetic aetiology of primary adrenal insufficiency in Sudan
Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A, Marroquin RL, Read J, Chan L, Metherell L and Musa S
Endocrine Abstracts, Bioscientifica 
31-10-2023

SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Chan L and Metherell L
Journal of The Endocrine Society, The Endocrine Society vol. 7 (Supplement_1) 
05-10-2023

Genetic Aetiology of Primary Adrenal Insufficiency in Sudan
Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL, Read J, Chan L, Metherell L and Musa S
Endocrine Abstracts, Bioscientifica 
02-05-2023

Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
02-05-2023

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia
Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC and Savage MO
Reviews in Endocrine and Metabolic Disorders, Springer Nature vol. 24 (2), 345-363.  
10-02-2023

Insulin resistance and symptoms of depression in Down syndrome
Wells J, Elizalde MT, Saini F, Gomis-González M, Smida IB, Gamazo LF, Chan L, Delahaye AH, Durand S, De La Torre Fornell R and Strydom A
Neuroscience Applied, Elsevier vol. 2 
01-01-2023

RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C, Clark A, Musa S, Prasad R and Metherell L
Journal of The Endocrine Society, The Endocrine Society vol. 6 (Supplement_2), a140-a141.  
01-11-2022

Identification of a novel specific small-molecule melanocortin-2-receptor antagonist
Chan L
Endocrine Connections, Bioscientifica vol. 11 (12) 
31-10-2022

The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing
Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R, Chan LF and Metherell LA
Endocrine Abstracts, Bioscientifica 
17-10-2022

Diabetes and obesity in Down Syndrome across the lifespan: a retrospective cohort study using UK electronic health records
Aslam A, Baksh A, Pape S, Strydom A, Gulliford M and Chan L
Diabetes Care, American Diabetes Association 
30-09-2022

Platelet-derived growth factor D expression in adrenal cells is modulated by corticosteroids: putative role in adrenal suppression
Parry CM, Chan LF, Carr DF and Hawcutt DB
Pediatric Research, Springer Nature vol. 93 (1), 97-101.  
14-05-2022

A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A, Prasad R, Chan L, Musa S and Metherell L
Endocrine Abstracts, Bioscientifica 
07-05-2022

Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK
Baksh RA, Strydom A, Pape SE, Chan LF and Gulliford MC
Journal of General Internal Medicine, Springer Nature vol. 37 (8), 2009-2015.  
06-04-2022

C-type natriuretic peptide is a pivotal regulator of metabolic homeostasis.
Perez-Ternero C, Aubdool AA, Makwana R, Sanger GJ, Stimson RH, Chan LF, Moyes AJ and Hobbs AJ
Proc Natl Acad Sci U S A vol. 119 (13) 
29-03-2022

Genetics of Adrenal Insufficiency
Chan LF and Ramachandrappa S
In Oxford Textbook of Endocrinology and Diabetes 3e, Oxford University Press (Oup) 901-911.  
01-01-2022

Multiple Morbidity Across the Lifespan in People with Down Syndrome or Intellectual Disability: Population-Based Cohort Study Using Electronic Health Records
Baksh RA, Pape SE, Chan LF, Aslam AA, Gulliford MC, Strydom A and Consortium G-D
The Lancet Public Health, Elsevier 
01-01-2022

In vitro splicing assay proves the pathogenicity of intronic variants in MRAP
Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
18-10-2021

Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signalling
H I, O D, F F, V C, AK G, NJ R, J B, V P, Y P, LF C, D B-Z, PJ M, Y N and M S-B
, Bioscientifica 
15-09-2021

Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF and Metherell LA
Endocrinology Diabetes and Metabolism Case Reports, Bioscientifica vol. 2021, 21-0128.  
01-09-2021

To eat or not to eat: cryo-EM structure of melanocortin receptor 4 reveals mechanism of a 'hunger switch' initiating satiety signalling
Degtjarik O, Israeli H, Chan LF, Ben-Zvi D, Niv MY, McCormick PJ and Shalev-Benami M
Acta Crystallographica Section a: Foundations and Advances, International Union of Crystallography (Iucr) vol. 77 (a2), c480-c480.  
14-08-2021

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-De-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA and Achermann JC
Journal of The Endocrine Society vol. 5 (8) 
01-08-2021

Rare causes of primary adrenal insufficiency (PAI) in children from Sudan
Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M and Metherell L
Endocrine Abstracts, Bioscientifica 
11-11-2019

Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability
Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
06-11-2019

Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2
Qamar Y, Maharaj A, Chan L, Deeb A and Metherell L
Endocrine Abstracts, Bioscientifica 
06-11-2019

Stability and Turnover of the ACTH Receptor Complex
Clark AJL and Chan L
Frontiers in Endocrinology, Frontiers vol. 10 
26-07-2019

ACTH signalling and adrenal development: lessons from mouse models
Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL and Chan LF
Endocrine Connections, Bioscientifica vol. -1 (aop), r122-r130.  
10-06-2019

Isolated glucocorticoid deficiency: Genetic causes and animal models
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA and Guasti L
Journal of Steroid Biochemistry and Molecular Biology vol. 189, 73-80.  
01-05-2019

Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
02-11-2018

Identification and characterisation of a small-molecule ACTH receptor/Melanocortin-2-receptor antagonist
Chan L, Hussain M, Forfar R, Khurana P, Cook J, Lewis S, McIver E, Jerman J, Taylor D and Clark A
Endocrine Abstracts, Bioscientifica 
18-10-2018

Overexpression of Melanocortin 2 Receptor Accessory Protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure
Bruschetta G, Kim JD, Diano S and CHAN L
Molecular Metabolism, Elsevier 
04-10-2018

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation
Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL and Chan LF
The Faseb Journal, Wiley vol. 32 (11), 6186-6196.  
07-06-2018

Pathophysiology of melanocortin receptors and their accessory proteins.
Novoselova TV, Chan LF and Clark AJL
Best Pract Res Clin Endocrinol Metab vol. 32 (2), 93-106.  
01-04-2018

Promiscuity among the MRAPs
Clark AJL and Chan LF
Journal of Molecular Endocrinology, Bioscientifica vol. 58 (3), F1-F4.  
01-04-2017

A central role for melanocortin-4 receptors in offspring hypertension arising from maternal obesity
CHAN L
Proceedings of The National Academy of Sciences of Usa, National Academy of Sciences 
06-10-2016

ACTH Antagonists
Clark AJ, Forfar R, Hussain M, Jerman J, McIver E, Taylor D and Chan L
Frontiers in Endocrinology, Frontiers Media vol. 7 
05-08-2016

Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol
Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L, Sanger Mouse Genetics Project T, O'Rahilly S, Clark AJL, Logan DW, Coll AP and Chan LF
Journal of Endocrinology, JOE-16-0057-JOE-16-0057.  
22-04-2016

Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel
Buonocore F, Chan L, Achermann J and Metherell L
Endocrine Abstracts, Bioscientifica 
12-10-2015

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
Chan LF, Campbell DC, Novoselova TV, Clark AJL and Metherell LA
Frontiers in Endocrinology, Frontiers vol. 6 
05-08-2015

Melanocortin receptor accessory proteins in adrenal disease and obesity
Jackson DS, Ramachandrappa S, Clark AJ and Chan LF
Frontiers in Neuroscience, Frontiers vol. 9 
10-06-2015

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency
Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS and Metherell LA
Journal of Clinical Endocrinology & Metabolism, Endocrine Society vol. 100 (2), E350-E354.  
01-02-2015

Melanocortin 2 receptor accessory protein 2 (Mrap2) regulates hypothalamic melanocortin-4-receptor trafficking in vivo
Novoselova T, Larder R, Rimmington D, Lelliott C, Wynn E, O'Rahilly S, Clark A, Logan D, Coll A and Chan L
Endocrine Abstracts, Bioscientifica 
14-10-2014

cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency
Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C and Metherell L
Endocrine Abstracts, Bioscientifica 
14-10-2014

Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc
Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
14-10-2014

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJL, Storr HL and Metherell LA
J Clin Endocrinol Metab vol. 99 (8), E1556-E1563.  
01-08-2014

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O’Rahilly S, CHAN L, Clark AJ, Farooqi IS and Majzoub JA
Science, American Association For The Advancement of Science vol. 341 (6143), 275-278.  
19-07-2013

Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA
Mol Cell Endocrinol vol. 371 (1-2), 195-200.  
22-05-2013

Familial glucocorticoid deficiency: New genes and mechanisms
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA
Molecular and Cellular Endocrinology vol. 371 (1-2), 195-200.  
22-05-2013

Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.
Novoselova TV, Jackson D, Campbell DC, Clark AJL and Chan LF
J Endocrinol vol. 217 (1), R1-11.  
01-04-2013

A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H and Metherell L
Endocrine Abstracts, Bioscientifica, 1-1.  
01-03-2013

ACTH resistance: genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL and Metherell LA
Endocr Dev vol. 24, 57-66.  
01-01-2013

The melanocortin receptors and their accessory proteins.
Ramachandrappa S, Gorrigan RJ, Clark AJL and Chan LF
Front Endocrinol (Lausanne) vol. 4 
01-01-2013

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL and Chan LF
Eur J Endocrinol vol. 165 (6), 987-991.  
01-12-2011

Effects of melanocortins on adrenal gland physiology
Chan LF, Metherell LA and Clark AJL
Eur J Pharmacol vol. 660 (1), 171-180.  
11-06-2011

Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.
Gorrigan RJ, Guasti L, King P, Clark AJ and Chan LF
J Mol Endocrinol vol. 46 (3), 227-232.  
01-06-2011

Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease.
Chan LF, Vaidya M, Westphal B, Allgrove J, Martin L, Afshar F, Hindmarsh PC, Savage MO, Grossman AB and Storr HL
Horm Res Paediatr vol. 75 (6), 441-446.  
01-01-2011

Signal transduction in child health: closing the gap between clinical and basic research.
Chan L, Albertsson-Wikland K, Camacho-Hübner C and Hochberg Z
Sci Signal vol. 3 (143) 
12-10-2010

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung T-TLL, Chan LF, Metherell LA and Clark AJL
Clin Endocrinol (Oxf) vol. 72 (5), 589-594.  
01-05-2010

Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease.
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP, Besser GM, Grossman AB, Savage MO and Storr HL
Eur J Endocrinol vol. 162 (3), 603-609.  
01-03-2010

Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.
Dias RP, Chan LF, Metherell LA, Pearce SHS and Clark AJL
Eur J Endocrinol vol. 162 (2), 357-359.  
01-02-2010

Diagnosis and Treatment of Cushing’s Disease in Children
Savage MO, Dias RP, Chan LF, Afshar F, Plowman PN, Matson M, Grossman AB and STORR HL
In Pediatric Neuroendocrinology, Karger Publishers, Editors: Loche S, Cappa M, Ghizzoni L, Maghnie M and Savage MO. 
01-01-2010

Diagnosis and treatment of Cushing's disease in children.
Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB and Storr HL
Endocr Dev vol. 17, 134-145.  
01-01-2010

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO, Cavarzere P and Clark AJL
Clin Endocrinol (Oxf) vol. 71 (2), 171-175.  
01-08-2009

MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.
Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M, Elphick MR, Cheetham ME, Metherell LA and Clark AJL
Proc Natl Acad Sci U S A vol. 106 (15), 6146-6151.  
14-04-2009

Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.
Chan LF, Chung T-T, Massoud AF, Metherell LA and Clark AJL
Eur J Endocrinol vol. 160 (4), 705-710.  
01-04-2009

The genetics of familial glucocorticoid deficiency.
Clark AJL, Chan LF, Chung T-T and Metherell LA
Best Pract Res Clin Endocrinol Metab vol. 23 (2), 159-165.  
01-04-2009

Accessory proteins are vital for the functional expression of certain G protein-coupled receptors.
Cooray SN, Chan L, Webb TR, Metherell L and Clark AJL
Mol Cell Endocrinol vol. 300 (1-2), 17-24.  
05-03-2009

Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.
Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP and Clark AJL
Endocrinology vol. 150 (2), 720-726.  
01-02-2009

Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2
Metherell LA, Chung TT, Chan LF and Clark AJL
Horm Res vol. 72, 211-211.  
01-01-2009

A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3
Chan LF, David A, Jain V, Clark AJL and Metherell LA
Horm Res vol. 72, 70-70.  
01-01-2009

Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP, Besser GM, Grossman AB, Savage MO and Storr HL
Hormone Research vol. 72, 72-72.  
01-01-2009

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SM, Costigan C, Lynch SA, Savage MO, Cavarzere P and Clark AJ
Clin Endocrinol (Oxf) vol. 71 (2), 171-175.  
01-01-2009

The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP and Clark AJL
J Clin Endocrinol Metab vol. 93 (12), 4948-4954.  
01-12-2008

Work-up and management of paediatric Cushing's syndrome.
Savage MO, Chan LF, Grossman AB and Storr HL
Curr Opin Endocrinol Diabetes Obes vol. 15 (4), 346-351.  
01-08-2008

A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL and Costigan C
J Clin Endocr Metab vol. 93 (7), 2896-2899.  
01-07-2008

A novel variant of familial glucorticoid deficiency prevalent among the Irish traveler population
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL and Costigan C
J Clin Endocrinol Metab. vol. 93 (7), 2896-2899.  
01-01-2008

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF, Clark AJL and Metherell LA
Horm Res vol. 69 (2), 75-82.  
01-01-2008

Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H and Clark AJL
Endocr Dev vol. 13, 99-116.  
01-01-2008

Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease
Storr H, Alexandraki K, Chan L, Martin L, Monson J, Besser M, Grossman A and Savage M
Horm Res vol. 70, 24-25.  
01-01-2008

Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype
Chan L, Chung TT, Massoud A, Metherell L and Clark A
Horm Res vol. 70, 23-23.  
01-01-2008

Advances in the management of paediatric Cushing's disease.
Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB and Storr HL
Horm Res vol. 69 (6), 327-333.  
01-01-2008

Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment.
Chan LF, Storr HL, Grossman AB and Savage MO
Arq Bras Endocrinol Metabol vol. 51 (8), 1261-1271.  
01-11-2007

Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances
Storr HL, Chan LF, Grossman AB and Savage MO
Trends Endocrin Met vol. 18 (4), 167-174.  
01-05-2007

Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy
Chan LF, Storr HL, Plowman PN, Perry LA, Besser GM, Grossman AB and Savage MO
Eur J Endocrinol vol. 156 (4), 477-482.  
01-04-2007

Diagnosis and treatment of pediatric Cushing's disease.
Savage MO, Storr HL, Chan LF and Grossman AB
Pituitary vol. 10 (4), 365-371.  
01-01-2007

The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF and Clark AJL
Best Pract Res Clin Endocrinol Metab vol. 20 (4), 547-560.  
01-12-2006

Anterior pituitary function in the long-term follow-up of five paediatric Cushing's disease patients treated with pituitary radiotherapy
Chan L, Storr H, Plowman PN, Perry L, Monson J, Besser GM, Grossman A and Savage M
Horm Res vol. 65, 186-186.  
01-01-2006

Pseudo-precocious puberty caused by a juvenile granulosa cell tumor secreting androstenedione, inhibin and insulin-like growth factor-I
Chan LF, Storr HL, Scheimberg I, Perry LA, Banerjee K, Miraki-Moud F, Camacho-Hubner C and Savage MO
J Pediatr Endocr Met vol. 17 (4), 679-684.  
01-04-2004

When is an abnormal frenulum a sign of child abuse?
Chan L and Hodes D
Arch Dis Child vol. 89 (3) 
01-01-2004