Pediatric Cushing's disease: Management Issues

por Savage, Martin O., Storr, Helen L.
Publicado 2012

GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy

por Savage, Martin O., Storr, Helen L.
Publicado 2021

Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches

por Savage, Martin Oswald, Storr, Helen Louise
Publicado 2021

Assessment of childhood short stature: a GP guide

por Storr, Helen L, Freer, Joseph, Child, Jenny, Davies, Justin H
Publicado 2023

Inequalities in the assessment of childhood short stature

por Davies, Justin H, Child, Jenny, Freer, Joseph, Storr, Helen L
Publicado 2023

Evaluating the sensitivity and specificity of the UK and Dutch growth referral criteria in predicting the diagnosis of pathological short stature

por White, Gemma, Cosier, Shakira, Andrews, Afiya, Martin, Lee, Willemsen, Ruben, Savage, Martin O, Storr, Helen L
Publicado 2022

SUN-454 Rationale and Methods for a Phase II Trial Evaluating Osilodrostat in Pediatric Patients with Cushing's Disease

por Savage, Martin, Shah, Nalini, Wojna, Judi, Han, Kevin, Roughton, Michael, Combes, François Pierre, Pultar, Philippe, Storr, Helen
Publicado 2019

Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study

por Freer, Joseph, Orr, Joanna, Morris, Joan K., Walton, Robert, Dunkel, Leo, Storr, Helen L., Prendergast, Andrew J.
Publicado 2022

Regional differences in short stature in England between 2006 and 2019: A cross-sectional analysis from the National Child Measurement Programme

por Orr, Joanna, Freer, Joseph, Morris, Joan K., Hancock, Caroline, Walton, Robert, Dunkel, Leo, Storr, Helen L., Prendergast, Andrew J.
Publicado 2021

An analysis of surveillance screening for SDHB-related disease in childhood and adolescence

por Tufton, Nicola, Shapiro, Lucy, Sahdev, Anju, Kumar, Ajith V, Martin, Lee, Drake, William M, Akker, Scott A, Storr, Helen L
Publicado 2019

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

por Chatterjee, Sumana, Cottrell, Emily, Rose, Stephen J, Mushtaq, Talat, Maharaj, Avinaash V, Williams, Jack, Savage, Martin O, Metherell, Louise A, Storr, Helen L
Publicado 2020

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty

por Saengkaew, Tansit, Patel, Heena R, Banerjee, Kausik, Butler, Gary, Dattani, Mehul T, McGuigan, Michael, Storr, Helen L, Willemsen, Ruben H, Dunkel, Leo, Howard, Sasha R
Publicado 2021

Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

por Backeljauw, Philippe F., Andrews, Mary, Bang, Peter, Dalle Molle, Leo, Deal, Cheri L., Harvey, Jamie, Langham, Shirley, Petriczko, Elżbieta, Polak, Michel, Storr, Helen L., Dattani, Mehul T.
Publicado 2023

Paediatric Cushing’s disease: Epidemiology, pathogenesis, clinical management and outcome

por Ferrigno, Rosario, Hasenmajer, Valeria, Caiulo, Silvana, Minnetti, Marianna, Mazzotta, Paola, Storr, Helen L, Isidori, Andrea M, Grossman, Ashley B, De Martino, Maria Cristina, Savage, Martin O
Publicado 2021

Bedtime Salivary Cortisol as a Screening Test for Cushing Syndrome in Children

por Ueland, Grethe Å, Kellmann, Ralf, Jørstad Davidsen, Melissa, Viste, Kristin, Husebye, Eystein S, Almås, Bjørg, Storr, Helen L, Sagen, Jørn V, Mellgren, Gunnar, Júlíusson, Petur B, Methlie, Paal
Publicado 2021

STAG3 truncating variant as the cause of primary ovarian insufficiency

por Le Quesne Stabej, Polona, Williams, Hywel J, James, Chela, Tekman, Mehmet, Stanescu, Horia C, Kleta, Robert, Ocaka, Louise, Lescai, Francesco, Storr, Helen L, Bitner-Glindzicz, Maria, Bacchelli, Chiara, Conway, Gerard S
Publicado 2016

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family

por Marques, Pedro, Barry, Sayka, Ronaldson, Amy, Ogilvie, Arla, Storr, Helen L., Goadsby, Peter J., Powell, Michael, Dang, Mary N., Chahal, Harvinder S., Evanson, Jane, Kumar, Ajith V., Grieve, Joan, Korbonits, Márta
Publicado 2018

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

por Prasad, Rathi, Chan, Li F., Hughes, Claire R., Kaski, Juan P., Kowalczyk, Julia C., Savage, Martin O., Peters, Catherine J., Nathwani, Nisha, Clark, Adrian J. L., Storr, Helen L., Metherell, Louise A.
Publicado 2014

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

por Andrews, Afiya, Maharaj, Avinaash, Cottrell, Emily, Chatterjee, Sumana, Shah, Pratik, Denvir, Louise, Dumic, Katja, Bossowski, Artur, Mushtaq, Talat, Vukovic, Rade, Didi, Mohamed, Shaw, Nick, Metherell, Louise A, Savage, Martin O, Storr, Helen L
Publicado 2021

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

por Maharaj, Avinaash, Kwong, Ruth, Williams, Jack, Smith, Christopher, Storr, Helen, Krone, Ruth, Braslavsky, Debora, Clemente, Maria, Ram, Nanik, Banerjee, Indraneel, Çetinkaya, Semra, Buonocore, Federica, Güran, Tülay, Achermann, John C, Metherell, Louise, Prasad, Rathi
Publicado 2022