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Yearbook of Paediatric Endocrinology最新文献

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Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty 全外显子组测序鉴定了家族性自限性青春期延迟的CCDC141中有害的罕见变异
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.7.1
Saengkaew T, R. G, D. A., M. A., Mariniello K, Cabrera Cp, Barnes Mr, Dunkel L, Guasti L, H. Sr
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引用次数: 0
Human islet T cells are highly reactive to preproinsulin in type 1 diabetes 1型糖尿病患者胰岛T细胞对胰岛素前原具有高度反应性
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.10.13
Anderson Am, Landry Lg, Alkanani Aa, Pyle L, Powers Ac, Atkinson Ma, Mathews Ce, Roep Bo, Michels Aw, Nakayama M
{"title":"Human islet T cells are highly reactive to preproinsulin in type 1 diabetes","authors":"Anderson Am, Landry Lg, Alkanani Aa, Pyle L, Powers Ac, Atkinson Ma, Mathews Ce, Roep Bo, Michels Aw, Nakayama M","doi":"10.1530/ey.19.10.13","DOIUrl":"https://doi.org/10.1530/ey.19.10.13","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85161216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intronic variant in POU1F1 associated with canine pituitary dwarfism 与犬垂体侏儒症相关的POU1F1内含子变异
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.1.8
Kyostila K, Niskanen Je, Arumilli M, Donner J, Hytonen Mk, L. H.
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引用次数: 0
Deciphering the spatial-temporal transcriptional landscape of human hypothalamus development 解读人类下丘脑发育的时空转录景观
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.1.1
Z. X, L. Y, Zhao F, Dong J, M. W, Z. S, Wang M, W. B, Z. Y, S. Y, M. q, Lu T, Zhang J, W. X, Wu Q
{"title":"Deciphering the spatial-temporal transcriptional landscape of human hypothalamus development","authors":"Z. X, L. Y, Zhao F, Dong J, M. W, Z. S, Wang M, W. B, Z. Y, S. Y, M. q, Lu T, Zhang J, W. X, Wu Q","doi":"10.1530/ey.19.1.1","DOIUrl":"https://doi.org/10.1530/ey.19.1.1","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74594361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes 具有生长激素不敏感综合征重叠特征的矮小患者的遗传特征
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.4.10
Andrews A, M. A., C. E., Chatterjee S, Shah P, D. L., Dumic K, Bossowski A, Mushtaq T, Vukovic R, D. M, S. N, Metherell La, Savage Mo, Storr Hl
{"title":"Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes","authors":"Andrews A, M. A., C. E., Chatterjee S, Shah P, D. L., Dumic K, Bossowski A, Mushtaq T, Vukovic R, D. M, S. N, Metherell La, Savage Mo, Storr Hl","doi":"10.1530/ey.19.4.10","DOIUrl":"https://doi.org/10.1530/ey.19.4.10","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81865127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adolescent transgender females present impaired semen quality that is suitable for intracytoplasmic sperm injection even before initiating gender-affirming hormone treatment 青春期变性女性表现出精液质量受损，甚至在开始性别确认激素治疗之前就适合进行卵胞浆内单精子注射
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.6.13
Amir H, P. L, B. S, Lantsberg D, Becker As, Israeli G, A. F, A. A., Oren A
{"title":"Adolescent transgender females present impaired semen quality that is suitable for intracytoplasmic sperm injection even before initiating gender-affirming hormone treatment","authors":"Amir H, P. L, B. S, Lantsberg D, Becker As, Israeli G, A. F, A. A., Oren A","doi":"10.1530/ey.19.6.13","DOIUrl":"https://doi.org/10.1530/ey.19.6.13","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"101 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81406460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline. 特发性垂体柄增厚、中枢性尿崩症或两者兼有的儿童和年轻人的管理:国家临床实践共识指南
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.1.13
Cerbone M, Visser J, Bulwer C, Ederies A, Vallabhaneni K, B. S., Kamaly-Asl I, G. A., Gleeson H, Korbonits M, Nanduri V, Tziaferi V, Jacques T, Spoudeas Ha
{"title":"Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline.","authors":"Cerbone M, Visser J, Bulwer C, Ederies A, Vallabhaneni K, B. S., Kamaly-Asl I, G. A., Gleeson H, Korbonits M, Nanduri V, Tziaferi V, Jacques T, Spoudeas Ha","doi":"10.1530/ey.19.1.13","DOIUrl":"https://doi.org/10.1530/ey.19.1.13","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82582742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Sex hormones drive changes in lipoprotein metabolism 性激素驱动脂蛋白代谢的变化
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.6.14
Robinson Ga, Peng J, Peckham H, Radziszewska A, Butler G, Pineda-Torra I, Jury Ec, Ciurtin C
{"title":"Sex hormones drive changes in lipoprotein metabolism","authors":"Robinson Ga, Peng J, Peckham H, Radziszewska A, Butler G, Pineda-Torra I, Jury Ec, Ciurtin C","doi":"10.1530/ey.19.6.14","DOIUrl":"https://doi.org/10.1530/ey.19.6.14","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"96 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90988774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Access to insulin products in Pakistan: a national scale cross-sectional survey on prices, availability, and affordability 巴基斯坦获得胰岛素产品:一项关于价格、可得性和可负担性的全国性横断面调查
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.13.5
Saeed A, Lambojon K, S. H., Saleem Z, Anwer N, Majid Aziz M, J. W., L. W, Chen C, Yang C, Fang Y, Babar Z-U-D
{"title":"Access to insulin products in Pakistan: a national scale cross-sectional survey on prices, availability, and affordability","authors":"Saeed A, Lambojon K, S. H., Saleem Z, Anwer N, Majid Aziz M, J. W., L. W, Chen C, Yang C, Fang Y, Babar Z-U-D","doi":"10.1530/ey.19.13.5","DOIUrl":"https://doi.org/10.1530/ey.19.13.5","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87760977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Placental uptake and metabolism of 25(OH)vitamin D determine its activity within the fetoplacental unit 胎盘对25(OH)维生素D的摄取和代谢决定了其在胎胎盘单位内的活性
Yearbook of Paediatric Endocrinology Pub Date : 2022-09-12 DOI: 10.1530/ey.19.14.7
A. B., Simner C, M. A., J. C., H. F., Frost Jm, Rezwan Fi, White Ch, Lofthouse Em, H. E., Cooke Ldf, Barton S, Mahon P, C. Em, Moon Rj, Crozier Sr, Inskip Hm, Godfrey Km, Holloway Jw, C. C, Jones Ks, Lewis Rm, Hewison M, Garbis Sdd, Branco Mr, Harvey Nc, Cleal Jk
{"title":"Placental uptake and metabolism of 25(OH)vitamin D determine its activity within the fetoplacental unit","authors":"A. B., Simner C, M. A., J. C., H. F., Frost Jm, Rezwan Fi, White Ch, Lofthouse Em, H. E., Cooke Ldf, Barton S, Mahon P, C. Em, Moon Rj, Crozier Sr, Inskip Hm, Godfrey Km, Holloway Jw, C. C, Jones Ks, Lewis Rm, Hewison M, Garbis Sdd, Branco Mr, Harvey Nc, Cleal Jk","doi":"10.1530/ey.19.14.7","DOIUrl":"https://doi.org/10.1530/ey.19.14.7","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"120 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87868589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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