Chatterjee S, Bertola DR, Agwu C, Maharaj A, Williams J, Cottrell E, Shapiro L, Andrews A et al. ( 2021 ) . Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 322 - 323 .
Chatterjee S, Bertola D, Agwu C, Karantza M, Cottrell E, Shapiro L, Maharaj AV, Williams J et al. ( 2019 ) . Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway . Endocrine Abstracts
Tufton N, Shapiro L, Sahdev A, Kumar AV, Martin L, Drake WM, Akker SA, Storr HL ( 2019 ) . An analysis of surveillance screening for SDHB-related disease in childhood and adolescence . Endocrine Connections vol. 8 , ( 3 ) 162 - 172 .
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U et al. ( 2018 ) . Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation . European Journal of Endocrinology vol. 178 , ( 5 ) 481 - 489 .
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL ( 2017 ) . Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity . European Journal of Endocrinology vol. 177 , ( 6 ) 485 - 501 .
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Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO, Storr HL ( 2017 ) . Young Thai sisters with growth hormone insensitivity or Laron syndrome . Asian Biomedicine vol. 11 , ( 2 ) 167 - 170 .
Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L et al. ( 2017 ) . Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers . Clinical Endocrinology vol. 86 , ( 2 ) 286 - 296 .
Chatterjee S, Shapiro L, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo APS, Kumbattae U et al. ( 2017 ) . PHENOTYPIC SPECTRUM AND RESPONSES TO RECOMBINANT HUMAN IGF-I (RHIGF-I) THERAPY IN PATIENTS WITH HOMOZYGOUS GH RECEPTOR PSEUDOEXON DEFECTS . HORMONE RESEARCH IN PAEDIATRICS . vol. 88 , 290 - 290 .
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Shapiro L, Elahi S, Riddoch F, Perry LA, Martin L, Akker SA, Monson JP, Drake WM et al. ( 2016 ) . Investigation for Paediatric Cushing's Syndrome Using Twenty-Four-Hour Urinary Free Cortisol Determination . Horm Res Paediatr vol. 86 , ( 1 ) 21 - 26 .
Shapiro L, Savage M, Davies K, Metherell L, Storr H ( 2016 ) . Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI) . HORMONE RESEARCH IN PAEDIATRICS . vol. 86 , 47 - 47 .
Shapiro L, Savage M, Metherell L, Storr H ( 2015 ) . Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing . Endocrine Abstracts
Shapiro L, Elahi S, Bailey J, Martin L, Drake WM, Savage MO, Storr HL ( 2014 ) . The accuracy of 24-h urinary free cortisol as a screening test in the diagnosis of Cushing's syndrome in children . Endocrine Abstracts
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