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1.	O'Donnell-Luria, AH, et al. (author) Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:6, s. 1210-1222 Journal article (peer-reviewed)
2.	Radio, FC, et al. (author) SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 2021 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 108:3, s. 502-516 Journal article (peer-reviewed)
3.	Ellard, DR, et al. (author) A qualitative process evaluation of training for non-physician clinicians/associate clinicians (NPCs/ACs) in emergency maternal, neonatal care and clinical leadership, impact on clinical services improvements in rural Tanzania: the ETATMBA project 2016 In: BMJ open. - : BMJ. - 2044-6055. ; 6:2, s. e009000- Journal article (peer-reviewed)
4.	Ellard, DR, et al. (author) Can training non-physician clinicians/associate clinicians (NPCs/ACs) in emergency obstetric, neonatal care and clinical leadership make a difference to practice and help towards reductions in maternal and neonatal mortality in rural Tanzania? The ETATMBA project 2016 In: BMJ open. - : BMJ. - 2044-6055. ; 6:2, s. e008999- Journal article (peer-reviewed)
5.	Hayden, PJ, et al. (author) Management of adults and children receiving CAR T-cell therapy: 2021 best practice recommendations of the European Society for Blood and Marrow Transplantation (EBMT) and the Joint Accreditation Committee of ISCT and EBMT (JACIE) and the European Haematology Association (EHA) 2022 In: Annals of oncology : official journal of the European Society for Medical Oncology. - 1569-8041. ; 33:3, s. 259-275 Journal article (other academic/artistic)
6.	Hayden, PJ, et al. (author) Management of adults and children receiving CAR T-cell therapy: 2021 best practice recommendations of the European Society for Blood and Marrow Transplantation (EBMT) and the Joint Accreditation Committee of ISCT and EBMT (JACIE) and the European Haematology Association (EHA) 2022 In: Annals of oncology : official journal of the European Society for Medical Oncology. - : Elsevier BV. - 1569-8041. ; 33:3, s. 259-275 Journal article (peer-reviewed)
7.	Adamo, Christin S., et al. (author) EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis 2022 In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 109:12, s. 2230-2252 Journal article (peer-reviewed)abstract EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency. In both humans and mice, absence of EMILIN1 impairs EFEMP2 extracellular matrix deposition and LOX activity resulting in impaired elastogenesis, reduced collagen crosslinking, and aberrant growth factor signaling. Collagen fiber ultrastructure and histopathology in EMILIN1- or EFEMP2-deficient skin and aorta corroborate these findings and murine Emilin1-/- femora show abnormal trabecular bone formation and strength. Altogether, EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis.
8.	Chahal, Harvinder S., et al. (author) Brief Report : AIP Mutation in Pituitary Adenomas in the 18th Century and Today 2011 In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 364:1, s. 43-50 Journal article (peer-reviewed)abstract Gigantism results when a growth hormone-secreting pituitary adenoma is present before epiphyseal fusion. In 1909, when Harvey Cushing examined the skeleton of an Irish patient who lived from 1761 to 1783, RF 1-3 he noted an enlarged pituitary fossa. We extracted DNA from the patient's teeth and identified a germline mutation in the aryl hydrocarbon-interacting protein gene (AIP). Four contemporary Northern Irish families who presented with gigantism, acromegaly, or prolactinoma have the same mutation and haplotype associated with the mutated gene. Using coalescent theory, we infer that these persons share a common ancestor who lived about 57 to 66 generations earlier.
9.	Christesen, HBT, et al. (author) Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation 2008 In: European journal of endocrinology. - 1479-683X. ; 159:1, s. 27-34 Journal article (peer-reviewed)
10.	Christesen, HBT, et al. (author) Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation 2008 In: HORMONE RESEARCH. - 0301-0163. ; 70, s. 41-41 Conference paper (other academic/artistic)

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Result 1-10 of 12

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Type of publication: journal article (10); conference paper (2)

Type of content: peer-reviewed (9); other academic/artistic (3)

Author/Editor: Ellard, S (6); Hildebrandt, M. (2); Mielke, S (2); Bonini, C (2); Alm, J (2); Chen, D (2); show more...; Ellard, Sian (2); Jackson, A (2); Molven, A (2); Bergstrom, S (2); Kersten, MJ (2); Saccardi, R (2); Bader, P (2); Corbacioglu, S (2); Snowden, JA (2); Kroger, N (2); Mohty, M (2); Mcwalter, K (2); Anderlid, BM (2); Murray, J. (2); Vrhovac, R (2); Styczynski, J (2); Thieblemont, C (2); Banka, S (2); Nagler, A (2); Basak, GW (2); Ciceri, F (2); Kuball, J (2); Bonig, H (2); Einsele, H (2); Jager, U (2); Rauch, A (2); Gribben, JG (2); Chabannon, C (2); Hayden, PJ (2); Kok, F. (2); Gloyn, AL (2); Christesen, HBT (2); Tribble, ND (2); Sandal, T (2); Brusgaard, K (2); Njolstad, PR (2); Jacobsen, BB (2); Hussain, K (2); Telegrafi, A (2); Davies, D (2); Kohl, U (2); Ellard, DR (2); Shemdoe, A (2); Mazuguni, F (2); show less...

University: Karolinska Institutet (9); Uppsala University (1); Stockholm University (1); Lund University (1)

Language: English (12)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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