المؤلفون: Lahousse L, Ziere G, Vincentius Verlinden, Mc, Zillikens, Ag, Uitterlinden, Rivadeneira F, Tiemeier H, Gf, Joos, Hofman A, Ma, Ikram, Oh, Franco, Gg, Brusselle, Bh, Stricker

المصدر: Europe PubMed Central

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5fc132907293a841094e47d0fe3bf665
http://europepmc.org/abstract/med/26355016

المؤلفون: Cm, Lindgren, Im, Heid, Jc, Randall, Lamina C, Steinthorsdottir V, Qi L, Ek, Speliotes, Thorleifsson G, Cj, Willer, Bm, Herrera, Au, Jackson, Lim N, Scheet P, Soranzo N, Amin N, Ys, Aulchenko, Jc, Chambers, Drong A, Luan J, Hn, Lyon, Rivadeneira F, Sanna S, Nj, Timpson, Mc, Zillikens, Jh, Zhao, Almgren P, Bandinelli S, Aj, Bennett, Rn, Bergman, Ll, Bonnycastle, Sj, Bumpstead, Sj, Chanock, Cherkas L, Chines P, Coin L, Cooper C, Crawford G, Doering A, Dominiczak A, Asf, Doney, Ebrahim S, Elliott P, Erdos MR, Estrada K, Ferrucci L, Fischer G, Ng, Forouhi, Gieger C, Grallert H, Cj, Groves, Grundy S, Guiducci C, Hadley D, Hamsten A, As, Havulinna, Hofman A, Holle R, Jw, Holloway, Illig T, Isomaa B, Lc, Jacobs, Jameson K, Jousilahti P, Karpe F, Kuusisto J, Laitinen J, Gm, Lathrop, Da, Lawlor, Mangino M, Wl, Mcardle, Meitinger T, Ma, Morken, Ap, Morris, Munroe P, Narisu N, Nordström A, Nordström P, Ba, Oostra, Cna, Palmer, Payne F, Jf, Peden, Inga Prokopenko, Renström F, Ruokonen A, Salomaa V, Ms, Sandhu, Lj, Scott, Scuteri A, Silander K, Song K, Yuan X, Hm, Stringham, Aj, Swift, Tuomi T, Uda M, Vollenweider P, Waeber G, Wallace C, Gb, Walters, Mn, Weedon, Jcm, Witteman, Zhang C, Zhang W, Mj, Caulfield, Fs, Collins, Davey Smith G, Inm, Day, Pw, Franks, At, Hattersley, Fb, Hu, Jarvelin M, Kong A, Js, Kooner, Laakso M, Lakatta E, Mooser V, Ad, Morris, Peltonen L, Nj, Samani, Td, Spector, Dp, Strachan, Tanaka T, Tuomilehto J, Ag, Uitterlinden, Cm, Duijn, Nj, Wareham, Procardis, Watkins For The Consortia H., Dm, Waterworth, Boehnke M, Deloukas P, Groop L, Dj, Hunter, Thorsteinsdottir U, Schlessinger D, H-, Wichmann, Tm, Frayling, Gr, Abecasis, Jn, Hirschhorn, Rjf, Loos, Stefansson K, Kl, Mohlke, Barroso I, Giant Mi, Mccarthy For The Consortium

المصدر: Europe PubMed Central
PLoS Genetics
PLoS Genetics, Vol 5, Iss 7 (2009)

مصطلحات موضوعية: lcsh:Genetics, 0303 health sciences, 03 medical and health sciences, Cancer Research, 0302 clinical medicine, lcsh:QH426-470, Genetics, Correction, 030209 endocrinology & metabolism, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4aa71e313de404e331242e6d0f0e4f
http://europepmc.org/abstract/PMC/PMC2722420

المؤلفون: Ratsma DMA; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Room Ee585b, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Muller M; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Room Ee585b, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Koedam M; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Room Ee585b, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Zillikens MC; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Room Ee585b, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., van der Eerden BCJ; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Room Ee585b, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands. b.vandereerden@erasmusmc.nl.

المصدر: Pflugers Archiv : European journal of physiology [Pflugers Arch] 2024 Aug; Vol. 476 (8), pp. 1279-1288. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 0154720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2013 (Electronic) Linking ISSN: 00316768 NLM ISO Abbreviation: Pflugers Arch Subsets: MEDLINE

مواضيع طبية MeSH: Sirtuin 1*/metabolism , Sirtuin 1*/genetics , Glycerophosphates*/pharmacology , Glycerophosphates*/metabolism , Fibroblast Growth Factors*/metabolism , Fibroblast Growth Factor-23*/metabolism , Reactive Oxygen Species*/metabolism, Animals ; Mice ; Transcription Factor HES-1/metabolism ; Transcription Factor HES-1/genetics ; Cell Line ; Heterocyclic Compounds, 4 or More Rings/pharmacology ; Carbazoles/pharmacology

المؤلفون: Funck-Brentano T; Reference Center for Rare Bone Diseases and Department of Rheumatology, Hôpital Lariboisière, APHP, Université Paris Cité, Paris, France; INSERM UMR1132 BIOSCAR, Paris, France. Electronic address: thomas.funck-brentano@aphp.fr., Zillikens MC; Bone Center, Department of Internal Medicine. Erasmus MC, University Medical Center Rotterdam, the Netherlands., Clunie G; Metabolic Bone Physician, Cambridge University Hospitals, Box 204, Hills Rd, Cambridge, CB2 0QQ, UK., Siggelkow H; MVZ Endokrinologikum, Göttingen, Germany; Clinic of Gastroenterology, Gastrointestinal Oncology and Endocrinology, University Medical Center, 37075, Göttingen, Germany., Appelman-Dijkstra NM; Center for Bone Quality, Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., Cohen-Solal M; Reference Center for Rare Bone Diseases and Department of Rheumatology, Hôpital Lariboisière, APHP, Université Paris Cité, Paris, France; INSERM UMR1132 BIOSCAR, Paris, France. Electronic address: martine.cohen-solal@inserm.fr.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104936. Date of Electronic Publication: 2024 Apr 07.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Osteopetrosis*/genetics , Osteopetrosis*/pathology , Osteoclasts*/pathology, Humans ; Adult ; Chloride Channels/genetics ; Mutation

المؤلفون: Foessl I; Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria. Electronic address: Ines.foessl@medunigraz.at., Ackert-Bicknell CL; Colorado Program for Musculoskeletal Research, Department of Orthopedics, University of Colorado, Aurora, CO, USA., Kague E; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Laskou F; MRC Lifecourse Epidemiology Centre, Southampton, UK., Jakob F; Bernhard-Heine-Centrum für Bewegungsforschung und Lehrstuhl für Funktionswerkstoffe der Medizin und der Zahnheilkunde, Würzburg, Germany., Karasik D; Azrieli Faculty of Medicine, Bar-Ilan University, Ramat Gan, Israel., Obermayer-Pietsch B; Division of Endocrinology and Diabetology, Department of Internal Medicine, Medical University of Graz, Graz, Austria., Alonso N, Bjørnerem Å, Brandi ML, Busse B, Calado Â, Cebi AH, Christou M, Curran KM, Hald JD, Semeraro MD, Douni E, Duncan EL, Duran I, Formosa MM, Gabet Y, Ghatan S, Gkitakou A, Hassler EM, Högler W, Heino TJ, Hendrickx G, Khashayar P, Kiel DP, Koromani F, Langdahl B, Lopes P, Mäkitie O, Maurizi A, Medina-Gomez C, Ntzani E, Ohlsson C, Prijatelj V, Rabionet R, Reppe S, Rivadeneira F, Roshchupkin G, Sharma N, Søe K, Styrkarsdottir U, Szulc P, Teti A, Tobias J, Valjevac A, van de Peppel J, van der Eerden B, van Rietbergen B, Zekic T, Zillikens MC

مؤلفون مشاركون: Co-authors

المصدر: Trends in endocrinology and metabolism: TEM [Trends Endocrinol Metab] 2024 Jun; Vol. 35 (6), pp. 478-489. Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Science Pub. Co Country of Publication: United States NLM ID: 9001516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3061 (Electronic) Linking ISSN: 10432760 NLM ISO Abbreviation: Trends Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Animals ; Humans ; Muscle, Skeletal/metabolism ; Zebrafish ; Mice ; Sarcopenia/metabolism ; Sarcopenia/physiopathology ; Musculoskeletal Diseases/physiopathology ; Musculoskeletal Diseases/genetics ; Osteoporosis/metabolism ; Osteoporosis/pathology

المؤلفون: M Boot A; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen 9713 GZ, The Netherlands., Ariceta G; Department of Pediatric Nephrology, University Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain., Beck-Nielsen SS; Centre for Rare Diseases, Pediatric Department, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Brandi ML; FIRMO Foundation, Florence, Italy., Briot K; AP-HP, Department of Rheumatology, Cochin Hospital, Paris, France., Collantes CL; Pediatric Nephrology, Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain., Giannini S; Department of Medicine, Clinica Medica 1, University of Padova, Padova, Italy., Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Keen R; Royal National Orthopaedic Hospital, Stanmore, UK., Levtchenko E; Department of Pediatric Nephrology, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Mughal MZ; Department of Pediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.; Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Makitie O; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Nilsson O; Division of Pediatric Endocrinology, Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden.; Department of Pediatrics and School of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden., Schnabel D; Center for Chronically Sick Children, Pediatric Endocrinology, Charitè, University Medicine, Berlin, Germany., Tripto-Shkolnik L; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Endocrinology, Diabetes and Metabolism, Sheba Medical Center, Tel HaShomer, Israel., Zillikens MC; Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Liu J; Kyowa Kirin International, Marlow, UK., Tudor A; Kyowa Kirin International, Marlow, UK., Emma F; Division of Nephrology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

المصدر: Therapeutic advances in chronic disease [Ther Adv Chronic Dis] 2024 May 18; Vol. 15, pp. 20406223241247643. Date of Electronic Publication: 2024 May 18 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101532140 Publication Model: eCollection Cited Medium: Print ISSN: 2040-6223 (Print) Linking ISSN: 20406223 NLM ISO Abbreviation: Ther Adv Chronic Dis Subsets: PubMed not MEDLINE

المؤلفون: van den Bergh JP; Department of Internal Medicine, VieCuri Medical Center, Venlo, the Netherlands. joop.vandenbergh@maastrichtuniversity.nl.; Department of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands. joop.vandenbergh@maastrichtuniversity.nl., Geusens P; Department of Internal Medicine, Subdivision Rheumatology, Maastricht University Medical Center, Maastricht, the Netherlands.; Department of Medicine and Life Science, Hasselt University, Hasselt, Belgium., Appelman-Dijkstra NM; Department of Internal Medicine, Division Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., van den Broek HJG; Osteoporose Vereniging, Bilthoven, the Netherlands., Elders PJM; Department of General Practice, Amsterdam Public Health Institute, Amsterdam UMC, Amsterdam, the Netherlands., de Klerk G; Department of Surgery, ADRZ, Goes, the Netherlands., van Oostwaard M; Department of Internal Medicine, VieCuri Medical Center, Venlo, the Netherlands.; Department of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands., Willems HC; Department of Internal Medicine and Geriatrics, Amsterdam University Medical Center, Amsterdam, the Netherlands., Zillikens MC; Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Lems WF; Department of Rheumatology, Amsterdam University Medical Center, Amsterdam, the Netherlands.

المصدر: Archives of osteoporosis [Arch Osteoporos] 2024 Apr 02; Vol. 19 (1), pp. 23. Date of Electronic Publication: 2024 Apr 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: England NLM ID: 101318988 Publication Model: Electronic Cited Medium: Internet ISSN: 1862-3514 (Electronic) NLM ISO Abbreviation: Arch Osteoporos Subsets: MEDLINE

مواضيع طبية MeSH: Osteoporosis*/drug therapy , Hip Fractures*/prevention & control, Humans ; Teriparatide ; Zoledronic Acid ; Ethnicity

المؤلفون: Casareto L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: lorena.casareto@ior.it., Appelman-Dijkstra NM; Department of Internal Medicine, Division of Endocrinology and Leiden Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands., Brandi ML; Bone Metabolic Diseases Unit, Careggi University Hospital (AOU Careggi), Florence, Italy, Florence, Italy., Chapurlat R; National Reference Center for Fibrous Dysplasia of Bone/McCune-Albright syndrome, INSERM, UMR, 1033, Hospices Civils de Lyon, Lyon, France., Cormier-Daire V; French reference center for skelatal dysplasia, Paris Cité University, Imagine Institute, Assistance Publique- Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France., Hamdy NAT; Department of Internal Medicine, Division of Endocrinology and Leiden Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands., Heath KE; Skeletal dysplasia multidisciplinary Unit (UMDE) and Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ and CIBERER, ISCIII, Madrid, Spain., Horn J; Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Olso, Norway., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Mohnike K; Universitätsklinikum Magdeburg, University of Magdeburg, Magdeburg, Germany., Sousa SB; Centro Hospitalar e Universitário de Coimbra, EPE, Portugal., Travessa A; Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, and Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Wekre LL; Oslo University Hospital, Oslo, Norway; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Norway., Zillikens MC; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

مؤلفون مشاركون: European Reference Network on rare BONe Diseases

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104916. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases*/diagnosis , Rare Diseases*/therapy , Bone Diseases*, Humans ; Europe

المؤلفون: Zervou Z; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Plooij R; Erasmus MC, Department of Rehabilitation Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., van Velsen EFS; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Timmermans RGM; Erasmus MC, Department of Rehabilitation Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Demirdas S; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands., Zillikens MC; Erasmus MC Bone Center, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands. Electronic address: m.c.zillikens@erasmusmc.nl.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104915. Date of Electronic Publication: 2024 Feb 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hypophosphatasia*/complications , Hypophosphatasia*/drug therapy , Neuralgia*/drug therapy , Immunoglobulin G* , Recombinant Fusion Proteins*, Adult ; Female ; Humans ; Child ; Middle Aged ; Alkaline Phosphatase/therapeutic use ; Quality of Life ; Enzyme Replacement Therapy/methods ; Headache/drug therapy

SCR Disease Name: Hypophosphatasia, Childhood

المؤلفون: Ratsma DMA; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Muller M; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Koedam M; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., van Leeuwen JPTM; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., Zillikens MC; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands., van der Eerden BCJ; Laboratory for Calcium and Bone Metabolism and Erasmus MC Bone Centre, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherlands.

المصدر: IScience [iScience] 2024 Mar 29; Vol. 27 (6), pp. 109625. Date of Electronic Publication: 2024 Mar 29 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE