首页 > 最新文献

Yearbook of Paediatric Endocrinology最新文献

英文 中文
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
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
{"title":"Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty","authors":"Saengkaew T, R. G, D. A., M. A., Mariniello K, Cabrera Cp, Barnes Mr, Dunkel L, Guasti L, H. Sr","doi":"10.1530/ey.19.7.1","DOIUrl":"https://doi.org/10.1530/ey.19.7.1","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":"88556071","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
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
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
Pub Date : 2022-09-12 DOI: 10.1530/ey.19.1.8
Kyostila K, Niskanen Je, Arumilli M, Donner J, Hytonen Mk, L. H.
{"title":"Intronic variant in POU1F1 associated with canine pituitary dwarfism","authors":"Kyostila K, Niskanen Je, Arumilli M, Donner J, Hytonen Mk, L. H.","doi":"10.1530/ey.19.1.8","DOIUrl":"https://doi.org/10.1530/ey.19.1.8","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"23 2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91294372","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
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
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
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
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
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
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
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
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
期刊
Yearbook of Paediatric Endocrinology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1