المؤلفون: Wehkalampi, K, Muurinen, M, Wirta, SB, Hannula-Jouppi, K, Hovi, P, Jarvenpaa, AL, Eriksson, JG, Andersson, S, Kere, J, Kajantie, E

المصدر: PloS one. 8(6):e67379

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Cell- och molekylärbiologi

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127296225

المؤلفون: Pulkkinen MA; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Varimo TJ; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Hakonen ET; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Harsunen MH; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Hyvönen ME; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Janér JN; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Kiiveri SM; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Laakkonen HM; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Laakso SM; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Wehkalampi K; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Hero MT; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Miettinen PJ; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Tuomaala AK; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

المصدر: Diabetes technology & therapeutics [Diabetes Technol Ther] 2023 Feb; Vol. 25 (2), pp. 100-107. Date of Electronic Publication: 2022 Dec 30.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 100889084 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8593 (Electronic) Linking ISSN: 15209156 NLM ISO Abbreviation: Diabetes Technol Ther Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 1*/drug therapy , Diabetes Mellitus, Type 1*/complications, Child ; Humans ; Blood Glucose ; Blood Glucose Self-Monitoring ; Glycated Hemoglobin ; Hypoglycemic Agents/therapeutic use ; Insulin/adverse effects ; Insulin Infusion Systems ; Prospective Studies ; Treatment Outcome

المؤلفون: Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O'Rahilly S, Aiken CE, Coll AP, Ma M, Rimmington D, Yeo GSH, Dunkel L

المساهمون: Children's Hospital, University of Helsinki, Clinicum, O'Rahilly, Stephen [0000-0003-2199-4449], Aiken, Catherine [0000-0002-6510-5626], Coll, Anthony [0000-0003-2594-7463], Yeo, Giles [0000-0001-8823-3615], Apollo - University of Cambridge Repository, Medical Research Council

مصطلحات موضوعية: Delayed puberty, Male, medicine.medical_specialty, Time Factors, Adolescent, LOCI, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Biology, Polymorphism, Single Nucleotide, Body Mass Index, MENARCHE, Endocrinology & Metabolism, Mice, AGE, Internal medicine, medicine, 1114 Paediatrics And Reproductive Medicine, Animals, Humans, GENOME-WIDE ASSOCIATION, Child, Gene, Mice, Knockout, Puberty, Delayed, RISK, Body Weight, Puberty, 1103 Clinical Sciences, Pedigree, Endocrinology, Phenotype, FTO FAT-MASS, Case-Control Studies, OBESITY, 3121 General medicine, internal medicine and other clinical medicine, GIRLS, GROWTH, Female, CONSTITUTIONAL DELAY, medicine.symptom, Function (biology), Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a77562f30b8cb462c63cfb8a89ff840
http://hdl.handle.net/10138/234208

المؤلفون: Varimo T; New Children's Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland., Iivonen AP; Stem Cells and Metabolism Research Program, Research Program Unit, University of Helsinki, Helsinki, Finland., Känsäkoski J; Stem Cells and Metabolism Research Program, Research Program Unit, University of Helsinki, Helsinki, Finland., Wehkalampi K; New Children's Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland., Hero M; New Children's Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland., Vaaralahti K; Stem Cells and Metabolism Research Program, Research Program Unit, University of Helsinki, Helsinki, Finland., Miettinen PJ; New Children's Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland., Niedziela M; Department of Pediatric Endocrinology and Rheumatology, Karol Jonscher's Clinical Hospital, Poznan University of Medical Sciences, Poznan, Poland., Raivio T; New Children's Hospital, Pediatric Research Center, Helsinki University Hospital, Helsinki, Finland. taneli.raivio@helsinki.fi.; Stem Cells and Metabolism Research Program, Research Program Unit, University of Helsinki, Helsinki, Finland. taneli.raivio@helsinki.fi.

المصدر: Pediatric research [Pediatr Res] 2021 Aug; Vol. 90 (2), pp. 431-435. Date of Electronic Publication: 2020 Nov 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Puberty, Precocious/*genetics , Ubiquitin-Protein Ligases/*genetics, Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Gonadotropin-Releasing Hormone/analogs & derivatives ; Gonadotropin-Releasing Hormone/therapeutic use ; Heterozygote ; Humans ; Male ; Paternal Inheritance ; Pedigree ; Phenotype ; Puberty, Precocious/diagnosis ; Puberty, Precocious/drug therapy ; Treatment Outcome

المؤلفون: Paalanne M; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics, and Gynecology), Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu, Finland., Vääräsmäki M; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics, and Gynecology), Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu, Finland., Mustaniemi S; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics, and Gynecology), Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu, Finland., Tikanmäki M; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics, and Gynecology), Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu, Finland., Wehkalampi K; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Matinolli HM; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; Research Center for Child Psychiatry, University of Turku, Turku, Finland.; INVEST Research Flagship, University of Turku, Turku, Finland., Eriksson J; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.; Department of General Practice and Primary Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Obstetrics and Gynecology, National University of Singapore, Yong Loo Lin School of Medicine, Singapore, Singapore.; Singapore Institute for Clinical Sciences, Agency for Science, Technology, and Research, Singapore, Singapore., Järvelin MR; Imperial College, London, UK., Morin-Papunen L; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics, and Gynecology), Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu, Finland., Kajantie E; Finnish Institute for Health and Welfare, Population Health Unit, Oulu and Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics, and Gynecology), Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu, Finland.; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2021 Jul 01; Vol. 185 (2), pp. 279-288. Date of Electronic Publication: 2021 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers*/analysis , Biomarkers*/blood, Polycystic Ovary Syndrome/*diagnosis , Polycystic Ovary Syndrome/*epidemiology , Premature Birth/*epidemiology, Adult ; Adult Children/statistics & numerical data ; Androgens/blood ; Body Mass Index ; Case-Control Studies ; Female ; Finland/epidemiology ; Gestational Age ; Hirsutism/blood ; Hirsutism/diagnosis ; Hirsutism/epidemiology ; Humans ; Infant, Newborn ; Polycystic Ovary Syndrome/blood ; Polycystic Ovary Syndrome/etiology ; Pregnancy ; Pregnancy Complications/epidemiology ; Prenatal Exposure Delayed Effects/epidemiology ; Prenatal Exposure Delayed Effects/etiology ; Risk Factors ; Testosterone/blood ; Young Adult

المؤلفون: Tuomaala AK; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Hero M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Tuomisto MT; Faculty of Social Sciences (Psychology), Tampere University, Tampere, Finland., Lähteenmäki M; Faculty of Social Sciences (Psychology), Tampere University, Tampere, Finland., Miettinen PJ; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Laine T; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Wehkalampi K; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kiiveri S; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Ahonen P; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Ojaniemi M; Department of Pediatrics and Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology, Oulu University Hospital and University of Oulu, Oulu, Finland., Kaunisto K; Department of Pediatrics and Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology, Oulu University Hospital and University of Oulu, Oulu, Finland., Tossavainen P; Department of Pediatrics and Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology, Oulu University Hospital and University of Oulu, Oulu, Finland., Lapatto R; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sarkola T; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Minerva Foundation Institute for Medical Research, Helsinki, Finland., Pulkkinen MA; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Mar 12; Vol. 12, pp. 639507. Date of Electronic Publication: 2021 Mar 12 (Print Publication: 2021).

نوع المنشور: Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Blood Glucose/*analysis , Diabetes Mellitus, Type 1/*psychology , Diabetes Mellitus, Type 1/*therapy , Motivational Interviewing/*methods, Adolescent ; Anthropometry ; Child ; Diabetes Mellitus, Type 1/blood ; Female ; Finland ; Glycated Hemoglobin/biosynthesis ; Humans ; Male ; Outpatients ; Pilot Projects ; Quality of Life ; Reproducibility of Results ; Treatment Outcome

المؤلفون: Mancini A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Howard SR; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Marelli F; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; IRCCS Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy., Cabrera CP; Centre for Translational Bioinformatics, William Harvey Research Institute, and.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Barnes MR; Centre for Translational Bioinformatics, William Harvey Research Institute, and.; NIHR Barts Cardiovascular Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Sternberg MJ; Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London, United Kingdom., Leprovots M; Université Libre de Bruxelles, Bruxelles, Belgium., Hadjidemetriou I; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Monti E; St George's NHS Foundation Trust, London, United Kingdom., David A; Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London, United Kingdom., Wehkalampi K; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Oleari R; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Lettieri A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Vezzoli V; IRCCS Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy., Vassart G; Université Libre de Bruxelles, Bruxelles, Belgium., Cariboni A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Bonomi M; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.; IRCCS Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases and Lab of Endocrine and Metabolic Research, Milan, Italy., Garcia MI; Université Libre de Bruxelles, Bruxelles, Belgium., Guasti L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Dunkel L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

المصدر: JCI insight [JCI Insight] 2020 Jun 04; Vol. 5 (11). Date of Electronic Publication: 2020 Jun 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Neurons*/metabolism , Neurons*/pathology , Puberty, Delayed*/genetics , Puberty, Delayed*/metabolism , Puberty, Delayed*/pathology , Wnt Signaling Pathway*, Receptors, G-Protein-Coupled/*deficiency, Animals ; Female ; Follow-Up Studies ; Gonadotropin-Releasing Hormone/genetics ; Gonadotropin-Releasing Hormone/metabolism ; Humans ; Male ; Mice ; Receptors, G-Protein-Coupled/metabolism ; beta Catenin/genetics ; beta Catenin/metabolism

المؤلفون: Kaseva N; National Institute for Health and Welfare, Helsinki, Finland., Vääräsmäki M; National Institute for Health and Welfare, Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics and Gynecology), Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Sundvall J; National Institute for Health and Welfare, Helsinki, Finland., Matinolli HM; National Institute for Health and Welfare, Helsinki, Finland.; Department of Nursing Science, University of Turku, Turku, Finland., Sipola M; National Institute for Health and Welfare, Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics and Gynecology), Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Institute of Health Sciences, University of Oulu, Oulu, Finland., Tikanmäki M; National Institute for Health and Welfare, Helsinki, Finland.; Institute of Health Sciences, University of Oulu, Oulu, Finland., Heinonen K; Department of Psychology and Logopedics, University of Helsinki, Helsinki, Finland., Lano A; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Wehkalampi K; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Wolke D; Department of Psychology, University of Warwick, Warwick, United Kingdom., Ruokonen A; NordLab Oulu, Oulu University Hospital, Oulu, Finland.; Department of Clinical Chemistry, University of Oulu, Oulu, Finland., Andersson S; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Järvelin MR; Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment & Health, School of Public Health, Imperial College London, London, United Kingdom.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.; Biocenter Oulu, University of Oulu, Oulu, Finland.; Unit of Primary Care, Oulu University Hospital, Oulu, Finland.; Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge, United Kingdom., Räikkönen K; Department of Psychology and Logopedics, University of Helsinki, Helsinki, Finland., Eriksson JG; National Institute for Health and Welfare, Helsinki, Finland.; Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland., Kajantie E; National Institute for Health and Welfare, Helsinki, Finland.; PEDEGO Research Unit (Research Unit for Pediatrics, Dermatology, Clinical Genetics, Obstetrics and Gynecology), Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Children's Hospital, Pediatric Research Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Jul 01; Vol. 104 (7), pp. 2785-2795.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Cardiovascular Diseases/*metabolism , Diabetes, Gestational/*epidemiology , Metabolic Syndrome/*metabolism , Obesity, Maternal/*epidemiology , Prenatal Exposure Delayed Effects/*metabolism, Adult ; Apolipoprotein A-I/metabolism ; Apolipoproteins B/metabolism ; Biomarkers ; Blood Glucose/metabolism ; Blood Pressure ; Cholesterol, HDL/metabolism ; Cholesterol, LDL/metabolism ; Cohort Studies ; Female ; Finland/epidemiology ; Heart Rate ; Humans ; Insulin/metabolism ; Insulin Resistance ; Longitudinal Studies ; Male ; Pregnancy ; Prenatal Exposure Delayed Effects/epidemiology ; Sex Hormone-Binding Globulin/metabolism ; Triglycerides/metabolism ; Young Adult

المؤلفون: Mancini A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Howard SR; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Cabrera CP; Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Barnes MR; Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., David A; Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London, UK., Wehkalampi K; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Heger S; Department of Pediatric Endocrinology, Children's Hospital Auf der Bult, Hannover, Germany., Lomniczi A; Oregon National Primate Research Center/Oregon Health and Science University, Portland, OR, USA., Guasti L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Ojeda SR; Oregon National Primate Research Center/Oregon Health and Science University, Portland, OR, USA., Dunkel L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

المصدر: Human molecular genetics [Hum Mol Genet] 2019 Apr 15; Vol. 28 (8), pp. 1357-1368.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gonadotropin-Releasing Hormone/*physiology , Puberty, Delayed/*genetics , Securin/*genetics, Adolescent ; Adult ; Animals ; Child ; Female ; Gene Expression Regulation/genetics ; Gonadotropin-Releasing Hormone/genetics ; Humans ; Hypothalamus/metabolism ; Male ; Mice ; Middle Aged ; Neurons/metabolism ; Promoter Regions, Genetic/genetics ; Puberty/genetics ; Puberty/physiology ; RNA, Messenger/genetics ; Securin/physiology ; Sexual Maturation/genetics ; Trans-Activators/genetics ; Transcription Factors/genetics ; Exome Sequencing ; Young Adult

المؤلفون: Howard SR; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Oleari R; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy., Poliandri A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Chantzara V; University College London Institute of Ophthalmology, University College London, London, United Kingdom., Fantin A; University College London Institute of Ophthalmology, University College London, London, United Kingdom., Ruiz-Babot G; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Cabrera CP; Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; NIHR Barts Cardiovascular Biomedical Research Unit, Queen Mary University of London, London, United Kingdom., Barnes MR; Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; NIHR Barts Cardiovascular Biomedical Research Unit, Queen Mary University of London, London, United Kingdom., Wehkalampi K; Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Guasti L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Ruhrberg C; University College London Institute of Ophthalmology, University College London, London, United Kingdom., Cariboni A; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; University College London Institute of Ophthalmology, University College London, London, United Kingdom., Dunkel L; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2018 Sep 01; Vol. 103 (9), pp. 3420-3429.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Hypogonadism/*genetics , Puberty, Delayed/*genetics , Sulfotransferases/*deficiency, Animals ; Cohort Studies ; Female ; Finland ; Gonadotropin-Releasing Hormone/genetics ; Heterozygote ; Humans ; Hypothalamus/metabolism ; Male ; Mice ; Mutation ; Pedigree ; Phenotype ; Sulfotransferases/genetics ; Exome Sequencing