Sastre A, Valentino K, Hannan Fm, Lines Ke, Gluck Ak, S. M, Ryalls M, Gorrigan Rj, P. D., Buck J, Sankaranarayanan S, Allgrove J, Thakker Rv, Gevers Ef
{"title":"PTH infusion for seizures in autosomal dominant hypocalcemia type 1","authors":"Sastre A, Valentino K, Hannan Fm, Lines Ke, Gluck Ak, S. M, Ryalls M, Gorrigan Rj, P. D., Buck J, Sankaranarayanan S, Allgrove J, Thakker Rv, Gevers Ef","doi":"10.1530/ey.19.5.4","DOIUrl":"https://doi.org/10.1530/ey.19.5.4","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"74 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78101355","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}
Perk Mem van der, B. L, Y. Y, Robison Ll, Hudson Mm, Laven Jse, Pal HJ van der, Tissing Wje, Versluys B, Bresters D, Kaspers Gjl, Ach de Vries, Lambalk Cb, Overbeek A, Loonen Jj, Beerendonk Ccm, Byrne J, B. C, Clemens E, Dirksen U, J. Winther, Fosså Sd, Grabow D, M. M, K. M, K. T, Kruseova J, M. D, Spix C, Zolk O, Kaatsch P, Krijthe Jh, K. Lcm, Brooke Rj, Baedke Jl, van Schaik Rhn, V. Jn, Uitterlinden Ag, Bos Ame, V. Fe, van Dulmen-den Broeder E, V. Alf, V. Mm
{"title":"Effect of Genetic Variation in CYP450 on gonadal impairment in a European cohort of female childhood cancer survivors, based on a candidate gene approach: results from the PanCareLIFE study","authors":"Perk Mem van der, B. L, Y. Y, Robison Ll, Hudson Mm, Laven Jse, Pal HJ van der, Tissing Wje, Versluys B, Bresters D, Kaspers Gjl, Ach de Vries, Lambalk Cb, Overbeek A, Loonen Jj, Beerendonk Ccm, Byrne J, B. C, Clemens E, Dirksen U, J. Winther, Fosså Sd, Grabow D, M. M, K. M, K. T, Kruseova J, M. D, Spix C, Zolk O, Kaatsch P, Krijthe Jh, K. Lcm, Brooke Rj, Baedke Jl, van Schaik Rhn, V. Jn, Uitterlinden Ag, Bos Ame, V. Fe, van Dulmen-den Broeder E, V. Alf, V. Mm","doi":"10.1530/ey.19.9.14","DOIUrl":"https://doi.org/10.1530/ey.19.9.14","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"118 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75691147","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}
{"title":"Comparative effectiveness of East Asian traditional medicine for treatment of idiopathic short stature in children: systematic review and network meta-analysis","authors":"L. B, Kwon Cy, J. S.","doi":"10.1530/ey.19.13.15","DOIUrl":"https://doi.org/10.1530/ey.19.13.15","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"89 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76466634","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}
{"title":"Management challenges and therapeutic advances in congenital adrenal hyperplasia","authors":"M. A, Merke Dp","doi":"10.1530/ey.19.8.16","DOIUrl":"https://doi.org/10.1530/ey.19.8.16","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85788901","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}
{"title":"Recombinant growth hormone therapy for cystic fibrosis in children and young adults","authors":"T. V, C. B, Putman M","doi":"10.1530/ey.19.4.2","DOIUrl":"https://doi.org/10.1530/ey.19.4.2","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82369428","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}
Rerat S, A. J., L'hour Mc, Bouhours-Nouet N, D. A, Rouleau S, L. L., Emeriau F, Moal V, Boux de Casson F, Lahlou N, Coutant R
{"title":"Lower circulating sertoli and leydig cell hormone levels during puberty in obese boys: a cross-sectional study","authors":"Rerat S, A. J., L'hour Mc, Bouhours-Nouet N, D. A, Rouleau S, L. L., Emeriau F, Moal V, Boux de Casson F, Lahlou N, Coutant R","doi":"10.1530/ey.19.11.12","DOIUrl":"https://doi.org/10.1530/ey.19.11.12","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79820915","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}
Pahl Mc, Doege Ca, Hodge Km, Littleton Sh, L. Me, L. S., Rausch R, Pippin Ja, D. Mc, B. A., Bradfield Jp, Hammond Rk, Boehm K, Berkowitz Ri, Lasconi C, S. C., Chesi A, Johns Me, Wells Ad, Voight Bf, Leibel Rl, Cousminer Dl, Grant Sfa.
{"title":"Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits","authors":"Pahl Mc, Doege Ca, Hodge Km, Littleton Sh, L. Me, L. S., Rausch R, Pippin Ja, D. Mc, B. A., Bradfield Jp, Hammond Rk, Boehm K, Berkowitz Ri, Lasconi C, S. C., Chesi A, Johns Me, Wells Ad, Voight Bf, Leibel Rl, Cousminer Dl, Grant Sfa.","doi":"10.1530/ey.19.1.2","DOIUrl":"https://doi.org/10.1530/ey.19.1.2","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":"87075098","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}
METHODS We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis.
{"title":"100,000 genomes pilot on rare-disease diagnosis in health care preliminary report","authors":"The Genomes-Project-Pilot-Investigators","doi":"10.1530/ey.19.15.16","DOIUrl":"https://doi.org/10.1530/ey.19.15.16","url":null,"abstract":"METHODS We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis.","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88249553","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}
J. C., Mueller S, Kluck R, Froede K, Pavicic L, G. J, M. D, Querfeld U, Haffner D, Zivicnjak M
{"title":"Growth hormone treatment in the pre-transplant period is associated with superior outcome after pediatric kidney transplantation","authors":"J. C., Mueller S, Kluck R, Froede K, Pavicic L, G. J, M. D, Querfeld U, Haffner D, Zivicnjak M","doi":"10.1530/ey.19.4.3","DOIUrl":"https://doi.org/10.1530/ey.19.4.3","url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"113 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85889614","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}
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