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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Prasad R, et al. Among authors: storr hl. J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165343 Free PMC article.
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E, Polak M, Storr HL, Dattani MT. Backeljauw PF, et al. Among authors: storr hl. Orphanet J Rare Dis. 2023 Oct 7;18(1):312. doi: 10.1186/s13023-023-02928-7. Orphanet J Rare Dis. 2023. PMID: 37805563 Free PMC article. Review.
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P, Vitobello A, Philippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Oleari R, et al. Among authors: storr hl. Dis Model Mech. 2023 Mar 1;16(3):dmm049996. doi: 10.1242/dmm.049996. Epub 2023 Mar 28. Dis Model Mech. 2023. PMID: 36810932 Free PMC article.
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Shah P, Storr HL, Willemsen RH, Howard SR. Aung Y, et al. Among authors: storr hl. Front Endocrinol (Lausanne). 2023 Aug 28;14:1226839. doi: 10.3389/fendo.2023.1226839. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37701896 Free PMC article.
Characterizing short stature by insulin-like growth factor axis status and genetic associations: results from the prospective, cross-sectional, epidemiogenetic EPIGROW study.
Clayton P, Bonnemaire M, Dutailly P, Maisonobe P, Naudin L, Pham E, Zhang Z, Grupe A, Thiagalingam A, Denèfle P; EPIGROW Study Group. Clayton P, et al. J Clin Endocrinol Metab. 2013 Jun;98(6):E1122-30. doi: 10.1210/jc.2012-4283. Epub 2013 Apr 17. J Clin Endocrinol Metab. 2013. PMID: 23596138
Does stunting still matter in high-income countries?
Freer J, Orr J, Walton R, Storr HL, Dunkel L, Prendergast AJ. Freer J, et al. Among authors: storr hl. Ann Hum Biol. 2023 Feb;50(1):267-273. doi: 10.1080/03014460.2023.2216022. Ann Hum Biol. 2023. PMID: 37358011 Free article. Review. No abstract available.
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.
Thaventhiran T, Orr J, Morris JK, Hsu A, Martin L, Davies KM, Harding V, Chapple P, Dunkel L, Storr HL. Thaventhiran T, et al. Among authors: storr hl. Mayo Clin Proc Digit Health. 2023 Dec;1(4):498-509. doi: 10.1016/j.mcpdig.2023.08.001. Mayo Clin Proc Digit Health. 2023. PMID: 38169882 Free PMC article.
Assessment of childhood short stature: a GP guide.
Storr HL, Freer J, Child J, Davies JH. Storr HL, et al. Br J Gen Pract. 2023 Mar 30;73(729):184-186. doi: 10.3399/bjgp23X732525. Print 2023 Apr. Br J Gen Pract. 2023. PMID: 36997204 Free PMC article. No abstract available.
95 results