QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

Authors: Avinaash V. Maharaj, Miho Ishida, Anna Rybak, Reem Elfeky, Afiya Andrews, Aakash Joshi, Frances Elmslie, Anni Joensuu, Katri Kantojärvi, Raina Y. Jia, John R. B. Perry, Edel A. O’Toole, Liam J. McGuffin, Vivian Hwa, Helen L. Storr

Source: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/b7bd35352d084070b84fa76be410b49c

Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis

Authors: Tahmid Rahman, Joseph Freer, Isabella Cordani, Michael Papasavva, Leo Dunkel, Robert Walton, Helen L. Storr, Andrew J. Prendergast, Joanna Orr

Source: BMC Public Health, Vol 24, Iss 1, Pp 1-10 (2024)

Subject Terms: Health visiting, Child development and growth, Service empowerment, Healthcare accessibility, Preventative care, Tower Hamlets, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2458

Access URL: https://doaj.org/article/9a7b475a449346359b3be2e67ac8dba9

A Digital Health Solution for Child Growth Monitoring at Home: Testing the Accuracy of a Novel 'GrowthMonitor' Smartphone Application to Detect Abnormal Height and Body Mass Indices

Authors: Thilipan Thaventhiran, PhD, Joanna Orr, PhD, Joan K. Morris, PhD, Anne Hsu, PhD, Lee Martin, BSc, Kate M. Davies, MSc, Vincent Harding, Paul Chapple, PhD, Leo Dunkel, MD, PhD, Helen L. Storr, MD, PhD

Source: Mayo Clinic Proceedings: Digital Health, Vol 1, Iss 4, Pp 498-509 (2023)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294976122300069X; https://doaj.org/toc/2949-7612

Access URL: https://doaj.org/article/9d615ab82bc34f51b8a20b8448d5085c

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

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

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

Subject Terms: Insulin-like growth factor-I (IGF-I), Severe primary IGF-I deficiency (SPIGFD), Growth hormone insensitivity (GHI), Short stature, Laron syndrome, Diagnosis, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/fb8d3643879745efaa2cd385c0bcb5af

Does stunting still matter in high-income countries?

Authors: Joseph Freer, Joanna Orr, Robert Walton, Helen L. Storr, Leo Dunkel, Andrew J. Prendergast

Source: Annals of Human Biology, Vol 50, Iss 1, Pp 267-273 (2023)

Subject Terms: Biology (General), QH301-705.5, Human anatomy, QM1-695, Physiology, QP1-981

File Description: electronic resource

Relation: https://doaj.org/toc/0301-4460; https://doaj.org/toc/1464-5033

Access URL: https://doaj.org/article/dff88e74b1a2426b82168314b910dc77

Generation of glucocorticoid-producing cells derived from human pluripotent stem cells

Authors: Gerard Ruiz-Babot, Ariane Eceiza, Fernando Abollo-Jiménez, Maria Malyukov, Diana L. Carlone, Kleiton Borges, Alexandra Rodrigues Da Costa, Shamma Qarin, Takuya Matsumoto, Ryuji Morizane, William C. Skarnes, Barbara Ludwig, Paul J. Chapple, Leonardo Guasti, Helen L. Storr, Stefan R. Bornstein, David T. Breault

Source: Cell Reports: Methods, Vol 3, Iss 11, Pp 100627- (2023)

Subject Terms: CP: Stem cell, Biotechnology, TP248.13-248.65, Biochemistry, QD415-436, Science

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667237523002916; https://doaj.org/toc/2667-2375

Access URL: https://doaj.org/article/6ac601e73ba74f568125dbf81561e3a8

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

Authors: Joseph Freer, Joanna Orr, Joan K. Morris, Robert Walton, Leo Dunkel, Helen L. Storr, Andrew J. Prendergast

Source: BMC Medicine, Vol 20, Iss 1, Pp 1-13 (2022)

Subject Terms: Short stature, Stunting, Linear growth, Height, Cognition, Cognitive development, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7015

Access URL: https://doaj.org/article/7f1fe57d6c7f4968bef0d58ae98d495d

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism

Authors: Yuri Aung, Vasilis Kokotsis, Kyla Ng Yin, Kausik Banerjee, Gary Butler, Mehul T. Dattani, Paul Dimitri, Leo Dunkel, Claire Hughes, Michael McGuigan, Márta Korbonits, George Paltoglou, Sophia Sakka, Pratik Shah, Helen L. Storr, Ruben H. Willemsen, Sasha R. Howard

Source: Frontiers in Endocrinology, Vol 14 (2023)

Subject Terms: puberty, idiopathic hypogonadotrophic hypogonadism, delayed puberty, self-limited delayed puberty, Kallmann syndrome, hypogonadism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1226839/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/88afa92d063948b29fdf6c6b1467cf4f

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency

Authors: Roberto Oleari, Antonella Lettieri, Stefano Manzini, Alyssa Paganoni, Valentina André, Paolo Grazioli, Marco Busnelli, Paolo Duminuco, Antonio Vitobello, Christophe Philippe, Varoona Bizaoui, Helen L. Storr, Federica Amoruso, Fani Memi, Valeria Vezzoli, Valentina Massa, Peter Scheiffele, Sasha R. Howard, Anna Cariboni

Source: Disease Models & Mechanisms, Vol 16, Iss 3 (2023)

Subject Terms: gnrh neurons, transcriptome, nlgn3, neuritogenesis, delayed puberty, autism spectrum disorder, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/16/3/dmm049996; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/d4dd80c652134f65ad526bbbecb0b59b

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

Authors: Martin O. Savage, Helen L. Storr

Source: Frontiers in Endocrinology, Vol 12 (2021)

Subject Terms: growth, short stature, growth hormone resistance, genetic defects, idiopathic short stature, growth hormone therapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.781044/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/4ee859521698462d893a86b224d6058b

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Authors: Gerard Ruiz-Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon J. Ajodha, David R. Taylor, Lea Ghataore, Norman F. Taylor, Undine Schubert, Christian G. Ziegler, Helen L. Storr, Maralyn R. Druce, Evelien F. Gevers, William M. Drake, Umasuthan Srirangalingam, Gerard S. Conway, Peter J. King, Louise A. Metherell, Stefan R. Bornstein, Leonardo Guasti

Source: Cell Reports, Vol 22, Iss 5, Pp 1236-1249 (2018)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124718300032; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/b1f4e353e7f448a3a66cb5d9fd291cc4

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

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

Source: International Journal of Endocrinology, Vol 2018 (2018)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/fe4e9a88f40a4a32a75a926983efab79

Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushings disease.

Authors: Helen L Storr, Farhad Afshar, Matthew Matson, Ian Sabin, Kate M Davies, Jane Evanson, P Nicholas Plowman, G Michael Besser, John P Monson, Ashley B Grossman, Martin O Savage

Source: European Journal of Endocrinology; Jun2005, Vol. 152 Issue 6, p825-833, 9p

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

Authors: MARTIN O SAVAGE, Lee Martin, Gemma White, Helen L Storr, Shakira Cosier, Afiya Andrews, Ruben Willemsen

Source: BMJ Paediatrics Open, Vol 6, Iss 1 (2022)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://bmjpaedsopen.bmj.com/content/6/1/e001385.full; https://doaj.org/toc/2399-9772

Access URL: https://doaj.org/article/e23debc9c18c4bb59ddb038eef9c06d8

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

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

Source: Endocrine Connections, Vol 9, Iss 3, Pp 211-222 (2020)

Subject Terms: short stature, growth hormone insensitivity, ghr pseudoexon, splicing, gene sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/9/3/EC-20-0026.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/872e822704c44f148aae5e7f05c2508b

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

Authors: Joanna Orr, Joseph Freer, Joan K Morris, Caroline Hancock, Robert Walton, Leo Dunkel, Helen L Storr, Andrew J Prendergast

Source: PLoS Medicine, Vol 18, Iss 9, p e1003760 (2021)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1549-1277; https://doaj.org/toc/1549-1676

Access URL: https://doaj.org/article/cf2a2b5ed3e34a3fa29426d63566f15c

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

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

Source: Endocrine Connections, Vol 8, Iss 3, Pp 162-172 (2019)

Subject Terms: SDHB, childhood, paediatric, adolescents, screening, surveillance, imaging, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/8/3/EC-18-0522.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/68bbf4cd517342d8b0c44037a12449ce

IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

Authors: Sasha R Howard, Leonardo Guasti, Gerard Ruiz‐Babot, Alessandra Mancini, Alessia David, Helen L Storr, Lousie A Metherell, Michael JE Sternberg, Claudia P Cabrera, Helen R Warren, Michael R Barnes, Richard Quinton, Nicolas de Roux, Jacques Young, Anne Guiochon‐Mantel, Karoliina Wehkalampi, Valentina André, Yoav Gothilf, Anna Cariboni, Leo Dunkel

Source: EMBO Molecular Medicine, Vol 8, Iss 6, Pp 626-642 (2016)

Subject Terms: delayed puberty, GnRH, hypothalamic amenorrhea, neuronal migration, puberty, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/b88afcd856224f63a71e372f61a45f58

Pediatric Cushing′s disease: Management Issues

Authors: Martin O Savage, Helen L Storr

Source: Indian Journal of Endocrinology and Metabolism, Vol 16, Iss 8, Pp 171-175 (2012)

Subject Terms: Cushing′s disease, Cushing′s syndrome, pediatrics, transsphenoidal surgery, radiotherapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Diseases of the digestive system. Gastroenterology, RC799-869

File Description: electronic resource

Relation: http://www.ijem.in/article.asp?issn=2230-8210;year=2012;volume=16;issue=8;spage=171;epage=175;aulast=Savage; https://doaj.org/toc/2230-8210; https://doaj.org/toc/2230-9500

Access URL: https://doaj.org/article/a0e42a7f16dd489fa85c2e40cdde009f