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- [1] Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalitiesJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022, 35 (06): : 831 - 835Griffero, Mariana论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, Chile Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileFigueredo Benedetti, Anna Flavia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med FMUSP, Lab Sequenciamento Larga Escala SELA, Sao Paulo, SP, Brazil Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChilePerez, Marcela论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Ophthalmol, Santiago, Chile Hosp Salvador, Santiago, Chile Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileCarvalho, Luciani论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Disciplina Endocrinol & Metabol,Dept Clin Med,LIM, Sao Paulo, Brazil Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileJorge, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med FMUSP, Lab Sequenciamento Larga Escala SELA, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Disciplina Endocrinol & Metabol,Dept Clin Med,LIM, Sao Paulo, Brazil Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileLatronico, Ana Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Disciplina Endocrinol & Metabol,Dept Clin Med,LIM, Sao Paulo, Brazil Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileMendonca, Berenice论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med FMUSP, Lab Sequenciamento Larga Escala SELA, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Disciplina Endocrinol & Metabol,Dept Clin Med,LIM, Sao Paulo, Brazil Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileArnhold, Ivo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Disciplina Endocrinol & Metabol,Dept Clin Med,LIM, Sao Paulo, Brazil Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, ChileMericq, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, Chile Univ Chile, Fac Med, Inst Maternal & Child Res IDIMI, POB 226-3, Santiago, Chile
- [2] Phenotype Associated With Two Novel OTX2 MutationsINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)Gerth, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Dept Ophthalmol, Rostock, Germany Univ Rostock, Dept Ophthalmol, Rostock, GermanyWilliamson, K.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland Univ Rostock, Dept Ophthalmol, Rostock, GermanyHingst, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Dept Radiol, Rostock, Germany Univ Rostock, Dept Ophthalmol, Rostock, GermanyGuthoff, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Dept Ophthalmol, Rostock, Germany Univ Rostock, Dept Ophthalmol, Rostock, GermanyFitzPatrick, D. R.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland Univ Rostock, Dept Ophthalmol, Rostock, Germanyvan Heyningen, V.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland Univ Rostock, Dept Ophthalmol, Rostock, Germany
- [3] Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHRENDOCRINE CONNECTIONS, 2019, 8 (05): : 590 - 595Nakaguma, Marilena论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilCorrea, Fernanda A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilSantana, Lucas S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Endocrinol Celular & Mol LIM25,Unidade Endocr, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilBenedetti, Anna F. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilPerez, Ricardo, V论文数: 0 引用数: 0 h-index: 0机构: IAMSPE, HSPE, Hosp Servidor Publ Estadual Sao Paulo, Serv Endocrinol, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilHuayllas, Martha K. P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Transplantes Euryclides Jesus Zerbini, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilMiras, Mirta B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos Santisima Trinidad, Cordoba, Argentina Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilFunari, Mariana F. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil论文数: 引用数: h-index:机构:Mendonca, Berenice B.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilCarvalho, Luciani R. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilJorge, Alexander A. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Endocrinol Celular & Mol LIM25,Unidade Endocr, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, BrazilArnhold, Ivo J. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin Fac Med, Disciplina Endocrinol, Lab Hormanios & Genet Mol LIM42,Unidade Endocrino, Sao Paulo, Brazil
- [4] OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeCLINICAL GENETICS, 2011, 79 (02) : 158 - 168Schilter, K. F.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Childrens Res Inst, Milwaukee, WI 53226 USA Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA Med Coll Wisconsin, Dept Cell Biol Neurobiol & Anat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USASchneider, A.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Med Ctr, Dept Pediat, Div Genet, Philadelphia, PA 19141 USA Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USABardakjian, T.论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Med Ctr, Dept Pediat, Div Genet, Philadelphia, PA 19141 USA Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USASoucy, J-F论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Div Med Genet, Montreal, PQ, Canada Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USATyler, R. C.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Childrens Res Inst, Milwaukee, WI 53226 USA Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USAReis, L. M.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Childrens Res Inst, Milwaukee, WI 53226 USA Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USASemina, E. V.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Childrens Res Inst, Milwaukee, WI 53226 USA Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA Med Coll Wisconsin, Dept Cell Biol Neurobiol & Anat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Translat & Biomed Res Ctr, Dept Pediat, Milwaukee, WI 53226 USA
- [5] The phenotypic spectrum associated with OTX2 mutations in humansEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2021, 185 (01) : 121 - 135Gregory, Louise C.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandGergics, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandNakaguma, Marilena论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandBando, Hironori论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandPatti, Giuseppa论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, England Univ Genoa, IRCCS Ist Giannina Gaslini, Dept Pediat, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandMcCabe, Mark J.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandFang, Qing论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandMa, Qianyi论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandOzel, Ayse Bilge论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandLi, Jun Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandPoina, Michele Moreira论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandJorge, Alexander A. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandBenedetti, Anna F. Figueredo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandLerario, Antonio M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandArnhold, Ivo J. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandMendonca, Berenice B.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandMaghnie, Mohamad论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, IRCCS Ist Giannina Gaslini, Dept Pediat, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandCamper, Sally A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandCarvalho, Luciani R. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Hosp Clin, Dev Endocrinol Unit, Sao Paulo, Brazil UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, EnglandDattani, Mehul T.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, England UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Res & Teaching Dept, Sect Mol Basis Rare Dis, London, England
- [6] Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and colobomaEuropean Journal of Human Genetics, 2016, 24 : 535 - 541Brett Deml论文数: 0 引用数: 0 h-index: 0机构: Medical College of Wisconsin,Department of Pediatrics and Children’s Research InstituteLinda M Reis论文数: 0 引用数: 0 h-index: 0机构: Medical College of Wisconsin,Department of Pediatrics and Children’s Research InstituteEmmanuelle Lemyre论文数: 0 引用数: 0 h-index: 0机构: Medical College of Wisconsin,Department of Pediatrics and Children’s Research InstituteRobin D Clark论文数: 0 引用数: 0 h-index: 0机构: Medical College of Wisconsin,Department of Pediatrics and Children’s Research InstituteAriana Kariminejad论文数: 0 引用数: 0 h-index: 0机构: Medical College of Wisconsin,Department of Pediatrics and Children’s Research InstituteElena V Semina论文数: 0 引用数: 0 h-index: 0机构: Medical College of Wisconsin,Department of Pediatrics and Children’s Research Institute
- [7] Functional diversity of Otx2 and Crx in retinal developmentINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)Yamamoto, Haruka论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Suita, Osaka, Japan Osaka Univ, Inst Prot Res, Suita, Osaka, JapanOmori, Yoshihiro论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Suita, Osaka, Japan Osaka Univ, Inst Prot Res, Suita, Osaka, JapanKon, Tetsuo论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Suita, Osaka, Japan Osaka Univ, Inst Prot Res, Suita, Osaka, JapanFurukawa, Takahisa论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Inst Prot Res, Suita, Osaka, Japan Osaka Univ, Inst Prot Res, Suita, Osaka, Japan
- [8] Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and colobomaEUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (04) : 535 - 541Deml, Brett论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Childrens Res Inst, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Cell Biol Neurobiol & Anat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USAReis, Linda M.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Childrens Res Inst, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USALemyre, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pediat, CHU Ste Justine, Serv Genet Med, Montreal, PQ H3C 3J7, Canada Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USAClark, Robin D.论文数: 0 引用数: 0 h-index: 0机构: Loma Linda Univ, Childrens Hosp, Dept Pediat, Div Med Genet, Loma Linda, CA 92354 USA Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USAKariminejad, Ariana论文数: 0 引用数: 0 h-index: 0机构: Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USASemina, Elena V.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Childrens Res Inst, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Cell Biol Neurobiol & Anat, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Pediat, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA
- [9] Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese familyACTA OPHTHALMOLOGICA, 2012, 90 (06) : e501 - e502You, Tian论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R China China Med Univ, Sch Basic Med, Dept Med Genet, Shenyang 110001, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaLv, Yuan论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch Basic Med, Dept Med Genet, Shenyang 110001, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaLiu, Shuqun论文数: 0 引用数: 0 h-index: 0机构: Yunnan Univ, Lab Conservat & Utilizat Bioresources, Minist Educ, Kunming, Peoples R China Yunnan Univ, Key Lab Microbial Resources, Minist Educ, Kunming, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaLi, Fei论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch Basic Med, Dept Med Genet, Shenyang 110001, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaZhao, Yan论文数: 0 引用数: 0 h-index: 0机构: Shenyang Womens & Childrens Hosp, Dept Genet, Shenyang, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaLv, Jingyu论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch Basic Med, Dept Med Genet, Shenyang 110001, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaQiu, Guangrong论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch Basic Med, Dept Med Genet, Shenyang 110001, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R ChinaJesse Li-Ling论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R China China Med Univ, Sch Basic Med, Dept Med Genet, Shenyang 110001, Peoples R China Sichuan Univ, Inst Med Genet, Sch Life Sci, Minist Educ, Chengdu 610064, Peoples R China Sichuan Univ, Key Lab Bioresources & Ecoenvironm, Minist Educ, Chengdu 610064, Peoples R China China Med Univ, Affiliated Hosp 1, Dept Emergency Med, Shenyang 110001, Peoples R China
- [10] Novel Heterozygous OTX2 Mutations and Whole Gene Deletions in Anophthalmia, Microphthalmia and ColobomaHUMAN MUTATION, 2008, 29 (11) : E278 - E283Wyatt, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandBakrania, Preeti论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandBunyan, David J.论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England Salisbury Dist Hosp, Natl Genet Reference Lab Wessex, Salisbury SP2 8BJ, Wilts, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandOsborne, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandCrolla, John A.论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England Salisbury Dist Hosp, Natl Genet Reference Lab Wessex, Salisbury SP2 8BJ, Wilts, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandSalt, Alison论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London, England Great Ormond St Hosp Sick Children, Wolfson Inst, London, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Fdn Jimenez Diaz, Serv Genet, E-28040 Madrid, Spain ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandNewbury-Ecob, Ruth论文数: 0 引用数: 0 h-index: 0机构: Royal United Hosp, Bath BA1 3NG, Avon, England United Bristol Healthcare Trust, Bristol, Avon, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandAbou-Rayyah, Y.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandCollin, J. Richard O.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandRobinson, David论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England Salisbury Dist Hosp, Natl Genet Reference Lab Wessex, Salisbury SP2 8BJ, Wilts, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, EnglandRagge, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England Moorfields Eye Hosp, London, England Birmingham Childrens Hosp, Dept Ophthalmol, Birmingham, W Midlands, England Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England