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- [1] Mutations in COL1A1 Gene Change Dentin NanostructureANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, 2016, 299 (04): : 511 - 519Duan, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaLiu, Zhenxia论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaGan, Yunna论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Sch Stomatol, Dept Prosthodont, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaXia, Dan论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Interdisciplinary Nanosci Ctr iNANO, Gustav WiedsVej 14, Aarhus C, Denmark Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaLi, Qiang论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Interdisciplinary Nanosci Ctr iNANO, Gustav WiedsVej 14, Aarhus C, Denmark Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaLi, Yanling论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaYang, Jiaji论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R China Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaGao, Shan论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Interdisciplinary Nanosci Ctr iNANO, Gustav WiedsVej 14, Aarhus C, Denmark Cent S Univ, Sch Stomatol, Dept Oral & Maxillofacial Surg, Changsha, Hunan, Peoples R China Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R ChinaDong, Mingdong论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Interdisciplinary Nanosci Ctr iNANO, Gustav WiedsVej 14, Aarhus C, Denmark Fourth Mil Med Univ, Dept Oral Biol, State Key Lab Mil Stomatol, Clin Oral Rare Dis & Genet Dis, 145 West Changle Rd, Xian 710032, Shaanxi, Peoples R China
- [2] The COL1A1 gene and high myopia susceptibility in JapaneseHuman Genetics, 2007, 122 : 151 - 157Yumiko Inamori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyMasao Ota论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyHidetoshi Inoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyEiichi Okada论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyRitsuko Nishizaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyTomoko Shiota论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyJeewon Mok论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyAkira Oka论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyShigeaki Ohno论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of OphthalmologyNobuhisa Mizuki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University School of Medicine,Department of Ophthalmology
- [3] Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaOrphanet Journal of Rare Diseases, 11Lucia Mauri论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsSteffen Uebe论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsHeinrich Sticht论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsUrs Vossmerbaeumer论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsNicole Weisschuh论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsEmanuela Manfredini论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsEdoardo Maselli论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsMariacristina Patrosso论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsRobert N. Weinreb论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsSilvana Penco论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsAndré Reis论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical GeneticsFrancesca Pasutto论文数: 0 引用数: 0 h-index: 0机构: A.O. Niguarda Ca’Granda Hospital,Medical Genetics
- [4] Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaORPHANET JOURNAL OF RARE DISEASES, 2016, 11Mauri, Lucia论文数: 0 引用数: 0 h-index: 0机构: AO Niguarda CaGranda Hosp, Med Genet, Milan, Italy AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyUebe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalySticht, Heinrich论文数: 0 引用数: 0 h-index: 0机构: FAU Erlangen Nurnberg, Inst Biochem, Bioinformat, Erlangen, Germany AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyVossmerbaeumer, Urs论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Augenklin & Poliklin, Mainz, Germany AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyWeisschuh, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Ophthalm Res, Ctr Ophthalmol, Mol Genet Lab, Tubingen, Germany AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyManfredini, Emanuela论文数: 0 引用数: 0 h-index: 0机构: AO Niguarda CaGranda Hosp, Med Genet, Milan, Italy AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyMaselli, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Clin Zucchi, Monza, Italy AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyPatrosso, Mariacristina论文数: 0 引用数: 0 h-index: 0机构: AO Niguarda CaGranda Hosp, Med Genet, Milan, Italy AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyWeinreb, Robert N.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Shiley Eye Inst, San Diego, CA USA AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyPenco, Silvana论文数: 0 引用数: 0 h-index: 0机构: AO Niguarda CaGranda Hosp, Med Genet, Milan, Italy AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyReis, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany AO Niguarda CaGranda Hosp, Med Genet, Milan, ItalyPasutto, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany AO Niguarda CaGranda Hosp, Med Genet, Milan, Italy
- [5] Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfectaBIOMEDICAL PAPERS-OLOMOUC, 2016, 160 (03): : 442 - 447Hruskova, Lucie论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Marik, Ivo论文数: 0 引用数: 0 h-index: 0机构: Ambulant Ctr Defects Locomotor Apparat 1 1 C, Prague, Czech Republic West Bohemia Univ, Fac Med Studies, Plzen, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic论文数: 引用数: h-index:机构:Martasek, Pavel论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech RepublicMazura, Ivan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, CR-11636 Prague 1, Czech Republic
- [6] Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patientsACTA OTO-LARYNGOLOGICA, 2016, 136 (08) : 786 - 791Duan, Hong论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R China Inner Mongolia Med Univ, Dept Otolaryngol, Affiliated Hosp, Hohhot, Inner Mongolia, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R ChinaYan, Zhiqiang论文数: 0 引用数: 0 h-index: 0机构: Chinese People Liberat Army, Hosp PLA 97, Xuzhou, Jiangsu, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R ChinaLu, Yu论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R ChinaCheng, Jing论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Ctr Med Genet, Chongqing 400038, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R ChinaZhang, Di论文数: 0 引用数: 0 h-index: 0机构: Tianjin First Ctr Hosp, Inst Otorhinolaryngol, Dept Otorhinolaryngol Head & Neck Surg, Tianjin, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R ChinaYuan, Huijun论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Ctr Med Genet, Chongqing 400038, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R ChinaHan, Dongyi论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Inst Otolaryngol, Beijing, Peoples R China
- [7] Reviewing the Regulators of COL1A1INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (12)Devos, Hanne论文数: 0 引用数: 0 h-index: 0机构: Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, Greece Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, GreeceZoidakis, Jerome论文数: 0 引用数: 0 h-index: 0机构: Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, Greece Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, GreeceRoubelakis, Maria G.论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Lab Biol, Sch Med, Athens 11527, Greece Acad Athens, Biomed Res Fdn, Lab Cell & Gene Therapy, Athens 11527, Greece Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, GreeceLatosinska, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Mosa Diagnost GmbH, D-30659 Hannover, Germany Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, GreeceVlahou, Antonia论文数: 0 引用数: 0 h-index: 0机构: Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, Greece Acad Athens, Ctr Syst Biol, Biomed Res Fdn, Athens 11527, Greece
- [8] Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or IIIACTA BIOCHIMICA POLONICA, 2018, 65 (01) : 79 - 86Augusciak-Duma, Aleksandra论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Mol Biol & Genet, Katowice, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandWitecka, Joanna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Mol Biol & Genet, Katowice, Poland Med Univ Silesia, Sch Pharm, Dept Parasitol, Div Lab Med Sosnowiec, Jednosci 8, PL-41218 Sosnowiec, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandSieron, Aleksander L.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Mol Biol & Genet, Katowice, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandJaneczko, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Collegium Med, Polish Amer Childrens Hosp, Dept Med Genet,Chair Pediat, Krakow, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandPietrzyk, Jacek J.论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Collegium Med, Polish Amer Childrens Hosp, Dept Med Genet,Chair Pediat, Krakow, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandOchman, Karolina论文数: 0 引用数: 0 h-index: 0机构: Clin & Med Labs INVICTA, Genet Clin, Gdansk, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandGalicka, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Bialystok, Dept Med Chem, Bialystok, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandBorszewska-Kornacka, Maria K.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Neonatal & Intens Care Dept, Warsaw, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandPilch, Jacek论文数: 0 引用数: 0 h-index: 0机构: Med Univ Silesia, Dept Child Neurol, Katowice, Poland Med Univ Silesia, Sch Med Katowice, Katowice, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, PolandJakubowska-Pietkiewicz, Elzbieta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Lodz, Dept Pediat Propedeut & Bone Metab Dis, Lodz, Poland Med Univ Silesia, Dept Mol Biol & Genet, Katowice, Poland
- [9] Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis ImperfectaAMERICAN JOURNAL OF CASE REPORTS, 2022, 23Cruz-Centeno, Nelimar论文数: 0 引用数: 0 h-index: 0机构: Univ Puerto Rico, Dept Surg, Med Sci Campus, San Juan, PR 00936 USA Univ Puerto Rico, Dept Surg, Med Sci Campus, San Juan, PR 00936 USASaenz-Maisonet, Jean F.论文数: 0 引用数: 0 h-index: 0机构: St Lukes Mem Med Ctr, Transit Program, Ponce, PR USA Univ Puerto Rico, Dept Surg, Med Sci Campus, San Juan, PR 00936 USALopez-Dones, Paola M.论文数: 0 引用数: 0 h-index: 0机构: Univ Puerto Rico, Sch Med, Med Sci Campus, San Juan, PR USA Univ Puerto Rico, Dept Surg, Med Sci Campus, San Juan, PR 00936 USASantiago-Cornier, Alberto论文数: 0 引用数: 0 h-index: 0机构: San Jorge Childrens & Womens Hosp, Genet Sect, San Juan, PR USA Univ Puerto Rico, Dept Surg, Med Sci Campus, San Juan, PR 00936 USAOrtiz-Justiniano, Victor N.论文数: 0 引用数: 0 h-index: 0机构: Univ Puerto Rico, Div Pediat Surg, Dept Surg, Med Sci Campus, San Juan, PR USA Univ Puerto Rico, Dept Surg, Med Sci Campus, San Juan, PR 00936 USA
- [10] The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfectaJournal of Bone and Mineral Metabolism, 2012, 30 : 69 - 77Zhen-Lin Zhang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesHao Zhang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesYao-hua Ke论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesHua Yue论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesWen-Jin Xiao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesJin-Bo Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesJie-Mei Gu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesWei-Wei Hu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesChun Wang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesJin-Wei He论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone DiseasesWen-Zhen Fu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University Affiliated Sixth People’s Hospital,Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases