日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Vitamin C Deficiency Deteriorates Bone Microarchitecture and Mineralization in a Sex-Specific Manner in Adult Mice

维生素C缺乏会以性别特异性的方式破坏成年小鼠的骨微结构和矿化作用

Blouin, Stéphane; Khani, Farzaneh; Messmer, Phaedra; Roschger, Paul; Hartmann, Markus A; van Wijnen, Andre J; Thaler, Roman; Misof, Barbara M

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene

一例轻微的常染色体隐性骨硬化症,其临床表现酷似显性骨硬化症,涉及CLCN7基因的纯合深内含子变异

Hofstaetter, Jochen G; Atkins, Gerald J; Kato, Hajime; Kogawa, Masakazu; Blouin, Stéphane; Misof, Barbara M; Roschger, Paul; Evdokiou, Andreas; Yang, Dongqing; Solomon, Lucian B; Findlay, David M; Ito, Nobuaki

No evidence for alteration in early secondary mineralization by either alendronate, teriparatide or combination of both in transiliac bone biopsy samples from postmenopausal osteoporotic patients

在绝经后骨质疏松症患者的髂骨穿刺活检样本中,未发现阿仑膦酸钠、特立帕肽或二者联合用药对早期继发性矿化产生改变的证据。

Misof, Barbara M; Roschger, Paul; Zhou, Hua; Nieves, Jeri W; Bostrom, Mathias; Cosman, Felicia; Lindsay, Robert; Klaushofer, Klaus; Dempster, David W

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

SGMS2基因致病变异引起的骨质疏松症和骨骼发育不良

Pekkinen, Minna; Terhal, Paulien A; Botto, Lorenzo D; Henning, Petra; Mäkitie, Riikka E; Roschger, Paul; Jain, Amrita; Kol, Matthijs; Kjellberg, Matti A; Paschalis, Eleftherios P; van Gassen, Koen; Murray, Mary; Bayrak-Toydemir, Pinar; Magnusson, Maria K; Jans, Judith; Kausar, Mehran; Carey, John C; Somerharju, Pentti; Lerner, Ulf H; Olkkonen, Vesa M; Klaushofer, Klaus; Holthuis, Joost Cm; Mäkitie, Outi

Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations

与体细胞MAP2K1突变相关的骨硬化症的独特临床和病理特征

Jha, Smita; Fratzl-Zelman, Nadja; Roschger, Paul; Papadakis, Georgios Z; Cowen, Edward W; Kang, Heeseog; Lehky, Tanya J; Alter, Katharine; Deng, Zuoming; Ivovic, Aleksandra; Flynn, Lauren; Reynolds, James C; Dasgupta, Abhijit; Miettinen, Markku; Lange, Eileen; Katz, James; Klaushofer, Klaus; Marini, Joan C; Siegel, Richard M; Bhattacharyya, Timothy

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction

由MAP2K1体细胞突变引起的骨硬化性病变导致骨微结构和骨膜反应恶化

Fratzl-Zelman, Nadja; Roschger, Paul; Kang, Heeseog; Jha, Smita; Roschger, Andreas; Blouin, Stéphane; Deng, Zuoming; Cabral, Wayne A; Ivovic, Aleksandra; Katz, James; Siegel, Richard M; Klaushofer, Klaus; Fratzl, Peter; Bhattacharyya, Timothy; Marini, Joan C

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

改变I型前胶原链羧基末端前肽切割位点的突变与独特的成骨不全表型相关

Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L; McInerney-Leo, Aideen M; Wheeler, Patricia G; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Schwarze, Ulrike; Byers, Peter H

Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg

低钙血症婴儿的心脏、骨骼和生长板表现:揭开维生素D缺乏症冰山一角

Uday, Suma; Fratzl-Zelman, Nadja; Roschger, Paul; Klaushofer, Klaus; Chikermane, Ashish; Saraff, Vrinda; Tulchinsky, Ted; Thacher, Tom D; Marton, Tamas; Högler, Wolfgang

Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

成骨不全症V型骨骼中的过度矿化和高骨细胞陷窝密度表明原发性骨形成旺盛。

Blouin, Stéphane; Fratzl-Zelman, Nadja; Glorieux, Francis H; Roschger, Paul; Klaushofer, Klaus; Marini, Joan C; Rauch, Frank

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

TMEM38B基因突变引起的成骨不全症的表型谱:揭示复杂的细胞缺陷

Webb, Emma A; Balasubramanian, Meena; Fratzl-Zelman, Nadja; Cabral, Wayne A; Titheradge, Hannah; Alsaedi, Atif; Saraff, Vrinda; Vogt, Julie; Cole, Trevor; Stewart, Susan; Crabtree, Nicola J; Sargent, Brandi M; Gamsjaeger, Sonja; Paschalis, Eleftherios P; Roschger, Paul; Klaushofer, Klaus; Shaw, Nick J; Marini, Joan C; Högler, Wolfgang